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Cellosaurus Terminology

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Cellosaurus Terminology

Cellosaurus is a knowledge resource on cell lines. It attempts to describe all cell lines used in biomedical research. It includes immortalized cell lines; naturally immortal cell lines (such as stem cell lines); finite life cell lines when those are distributed and used widely. It encompasses vertebrate cell lines, with an emphasis on human, mouse and rat cell lines, and invertebrate (insects and ticks) cell lines.

The Cellosaurus Terminology comprises two subsets: The Cellosaurus Disease Terminology and the Cellosaurus Resistance and Transformant Physical Factor Terminology. The Cellosaurus Disease Terminology is a set of terms used to annotate cell lines originating from a diseased patient or animal. For inherited diseases, the relevant terms are only applied to cell lines originating from individuals suffering or at risk for a disease and not for individuals that are carriers for such disease. For cancers, the relevant terms are only applied to cell lines established from a cancerous tissue. The Cellosaurus Resistance and Transformant Physical Factor Terminology is a set of physical factors, which may be causative or a treatment for diseases within the domain of Cellosaurus

The Cellosaurus is developed by Dr. Amos Bairoch of the CALIPHO group at the Swiss Institute of Bioinformatics. This value set is available in three file formats: .xlsx; .xls; and .txt. These files are accessible on the NCI EVS ftp.

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Cellosaurus Terminology
- Cellosaurus Disease Terminology
- Cellosaurus Resistance and Transformant Physical Factor Terminology

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Subset Code	Subset Name	NCIt Code	Cellosaurus Preferred Term	NCIt Preferred Term	NCIt Synonym	NCIt Definition
C165258	Cellosaurus Disease Terminology	C120203	17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency	17 Beta HSD3 Deficiency \|\| Pseudohermaphroditism, Male, with Gynecomastia	Decreased activity of the steroidogenic enzyme, 17-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD17B3 gene, leading to reduced testosterone production.
C165258	Cellosaurus Disease Terminology	C74983	1p36 Deletion Syndrome	1p36 Deletion Syndrome	1p Telomere Deletion Syndrome	A rare syndrome caused by the deletion of the distal band on the short arm of chromosome 1. It is characterized by a distinctive facial appearance (microcephaly, deep set eyes, flat nose, and pointed chin), developmental abnormalities, mental retardation, seizures, hypotonia, hearing loss, and heart defects.
C165258	Cellosaurus Disease Terminology	C2989	22q11.2 Deletion Syndrome	22q11.2 Deletion Syndrome	DiGeorge Anomaly \|\| DiGeorge Syndrome \|\| DiGeorge's Syndrome	A congenital anomaly characterized by immunodeficiency, abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections. Pathologic characteristics include conotruncal abnormalities and absence or hypoplasia of thymus and parathyroid glands. DiGeorge syndrome is associated with abnormalities of chromosome 22. Also known as DiGeorge anomaly.
C165258	Cellosaurus Disease Terminology	C128187	2-Hydroxyglutaric Aciduria	2-Hydroxyglutaric Aciduria		A group of genetic disorders characterized by elevated urinary concentrations of 2-hydroxyglutaric acid. Three different types have been identified based on the steroisomeric composition of the elevated alpha-hydroxyglutaric acid metabolites. Additionally, the disease may be categorized by the genetic mutation that is causative. Genes associated with 2-hydroxyglutaric aciduria are L2HGDH, D2HGDH, IDH2, and/or SLC25A1. Generally, there is nervous system involvement, but the clinical manifestations are variable and are dependent on the specific type of defect present.
C165258	Cellosaurus Disease Terminology	C173146	3-Methylglutaconic Aciduria Type 5	3-Methylglutaconic Aciduria Type 5	3-Methylglutaconic Aciduria Type V \|\| Dilated Cardiomyopathy with Ataxia	An autosomal recessive subtype of 3-methylglutaconic aciduria caused by mutation(s) in the DNAJC19 gene, encoding mitochondrial import inner membrane translocase subunit TIM14.
C165258	Cellosaurus Disease Terminology	C120197	46,XX Gonadal Dysgenesis	46,XX Gonadal Dysgenesis	46,XX Ovarian Dysgenesis	Gonadal dysgenesis in an individual with 46,XX karyotype and female phenotype.
C165258	Cellosaurus Disease Terminology	C179867	46,XX Sex Reversal 1	46,XX Sex Reversal 1	XX Male, SRY-Positive	Presence of testes in an individual with a 46,XX karyotype associated with translocation of the SRY gene, encoding the transcription factor sex-determining region Y protein (SRY-positive).
C165258	Cellosaurus Disease Terminology	C120198	46,XY Gonadal Dysgenesis	46,XY Gonadal Dysgenesis	Swyer Syndrome	Gonadal dysgenesis in an individual with 46.XY karyotype.
C165258	Cellosaurus Disease Terminology	C128188	46,XY Sex Reversal 1	46,XY Sex Reversal 1		Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the SRY gene, encoding sex-determining region Y protein.
C165258	Cellosaurus Disease Terminology	C202543	46,XY Sex Reversal 2	46,XY Sex Reversal 2		Sex reversal in an individual with 46,XY karyotype caused by point mutations or deletions in the NR0B1 gene, encoding nuclear receptor subfamily 0 group B member 1.
C165258	Cellosaurus Disease Terminology	C132270	46,XY Sex Reversal 4	46,XY Sex Reversal 4		Sex reversal in an individual associated with a 9p24.3 deletion.
C165258	Cellosaurus Disease Terminology	C129718	47,XXX Syndrome	47,XXX Syndrome		A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language.
C165258	Cellosaurus Disease Terminology	C85237	47,XYY Syndrome	47,XYY Syndrome	XYY Syndrome	A condition caused by the presence of an extra Y chromosome resulting in 47,XYY karyotype in an individual with male phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language. Testicular function and size are normal.
C165258	Cellosaurus Disease Terminology	C185635	49,XXXXY Syndrome	49,XXXXY Syndrome		A condition caused by the presence of an three extra X chromosomes resulting in 49,XXXXY karyotype in an individual with male phenotype.
C165258	Cellosaurus Disease Terminology	C84524	5' 10' Methylenetetrahydrofolate Reductase Deficiency	5' 10' Methylenetetrahydrofolate Reductase Deficiency	5' 10' Methylenetetrahydrofolate Reductase Deficiency (MTHFR)	A rare disorder associated with mental retardation, spasticity, and early death.
C165258	Cellosaurus Disease Terminology	C98699	5 Alpha Steroid Reductase 2 Deficiency	5 Alpha Steroid Reductase 2 Deficiency	Pseudovaginal Perineoscrotal Hypospadias	An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha reductase 2 that catalyzes the conversion of testosterone to dihydrotestosterone. It results in disruption of the formation of male genitalia. Patients present with pseudohermaphroditism.
C165258	Cellosaurus Disease Terminology	C3741	Abdominal (Mesenteric) Fibromatosis	Abdominal (Mesenteric) Fibromatosis	Abdominal Desmoid \|\| Abdominal Desmoid Tumor \|\| Abdominal Fibromatosis \|\| Intraabdominal Desmoid \|\| Intraabdominal Desmoid Tumor \|\| Intraabdominal Fibromatosis \|\| Mesenteric Desmoid \|\| Mesenteric Desmoid Tumor \|\| Mesenteric Fibromatosis \|\| Peritoneal Desmoid Fibromatosis	An insidious poorly circumscribed neoplasm arising from the deep soft tissues of the abdomen. It is characterized by the presence of elongated spindle-shaped fibroblasts, collagenous stroma formation, and an infiltrative growth pattern.
C165258	Cellosaurus Disease Terminology	C84525	Abetalipoproteinemia	Abetalipoproteinemia		An autosomal recessive disorder characterized by defective absorption of dietary fat, cholesterol and fat-soluble vitamins. It results in multiple vitamin deficiencies. Signs and symptoms include failure to thrive, diarrhea, steatorrhea, acanthocytosis and ataxia.
C165258	Cellosaurus Disease Terminology	C26687	Acanthosis Nigricans	Acanthosis Nigricans		A melanotic cutaneous lesion that develops in the axilla and other body folds. It may be idiopathic, drug-induced, or it may be associated with the presence of an endocrine disorder or malignancy.
C165258	Cellosaurus Disease Terminology	C84526	Acatalasemia	Acatalasemia	Acatalasia	A rare autosomal recessive disorder characterized by deficiency of catalase in the peripheral blood. It is usually manifested with periodontal infections.
C165258	Cellosaurus Disease Terminology	C189281	Aceruloplasminemia	Aceruloplasminemia		An autosomal recessive condition caused by mutation(s) in the CP gene, encoding ceruloplasmin. It is characterized by low concentrations of ceruloplasmin.
C165258	Cellosaurus Disease Terminology	C34345	Achondroplasia	Achondroplasia		An autosomal dominant disorder caused by mutation(s) in the FGFR3 gene, encoding fibroblast growth factor receptor 3. The condition is characterized by inappropriate cartilage growth plate differentiation and deficient endochondral growth, manifest clinically with severe rhizomelic short stature, short limbs, characteristic facies with frontal bossing and midface hypoplasia.
C165258	Cellosaurus Disease Terminology	C168757	Achromatopsia 2	Achromatopsia 2		An autosomal recessive condition caused by mutation(s) in the CNGA3 gene, encoding cyclic nucleotide-gated cation channel subunit alpha-3. It is characterized by achromatopsia.
C165258	Cellosaurus Disease Terminology	C164226	Achromatopsia 5	Achromatopsia 5		An autosomal recessive condition caused by mutation(s) in the PDE6C gene, encoding cone cGMP-specific 3',5'-cyclic phosphodiesterase subunit alpha. It is characterized by low visual acuity and severe color vision defects. This condition is closely related to cone dystrophy 4, which is also caused by mutation(s) in the PDE6C gene.
C165258	Cellosaurus Disease Terminology	C4022	Acral Lentiginous Melanoma	Acral Lentiginous Melanoma	Acral Lentiginous Malignant Melanoma \|\| Acral Melanoma	A form of melanoma occurring most often on the plantar, palmar, subungual, and periungual skin. It presents as a pigmented macular lesion with irregular borders. Morphologically, it consists of atypical spindled and dendritic melanocytes. The epidermis is often hyperplastic and there is pagetoid infiltration of the epidermis by anaplastic cells.
C165258	Cellosaurus Disease Terminology	C128802	Acrodermatitis Enteropathica	Acrodermatitis Enteropathica		An autosomal recessive genetic disorder caused by mutations in the SLC39A4 gene, encoding zinc transporter ZIP4. The condition is characterized by zinc deficiency, periorificial and acral dermatitis, and diarrhea.
C165258	Cellosaurus Disease Terminology	C179298	Acromesomelic Dysplasia, PRKG2 Type	Acromesomelic Dysplasia, PRKG2 Type		A genetic condition caused by mutation(s) in the PRKG2 gene, encoding cGMP-dependent protein kinase 2. It is characterized by acromelia and mesomelia.
C165258	Cellosaurus Disease Terminology	C3148	Actinic Keratosis	Actinic Keratosis	Actinic (Solar) Keratosis \|\| Solar Keratosis	A precancerous lesion of the skin composed of atypical keratinocytes. It is characterized by the presence of thick, scaly patches of skin. Several histologic variants have been described, including atrophic, acantholytic, hypertrophic, proliferative, lichenoid, bowenoid, and pigmented variants.
C165258	Cellosaurus Disease Terminology	C4673	Acute Biphenotypic Leukemia	Acute Biphenotypic Leukemia		An acute leukemia of ambiguous lineage characterized by blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C202017	Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion	Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion	Acute Encephalopathy with Biphasic Seizures and Late Restricted Diffusion	A clinico-radiologic syndrome consisting of acute encephalopathy characterized by biphasic seizures and altered consciousness in the acute phase, followed by restricted diffusion in the subcortical white matter on diffusion-weighted magnetic resonance imaging.
C165258	Cellosaurus Disease Terminology	C8923	Acute Erythroid Leukemia	Acute Erythroid Leukemia	Acute Erythroblastic Leukemia \|\| Erythroblastic Leukemia \|\| M6 Acute Myeloid Leukemia	An acute myeloid leukemia characterized by a predominant immature erythroid population. There are two subtypes recognized: erythroleukemia and pure erythroid leukemia. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C133887	Acute Hepatic Porphyria	Acute Hepatic Porphyria	ALAD Deficiency \|\| Delta-Aminolevulinate Dehydratase Deficiency \|\| Porphobilinogen Synthase Deficiency
C165258	Cellosaurus Disease Terminology	C84536	Acute Intermittent Porphyria	Acute Intermittent Porphyria	Porphyria, Acute Intermittent	A genetic metabolic disorder inherited in an autosomal dominant pattern. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is involved in heme biosynthesis. Signs and symptoms include nausea, vomiting, severe abdominal pain and distension, urinary retention, port-wine urine discoloration, hypertension, tachycardia, muscle weakness, loss of sensation, anxiety, depression, and arm, leg and back pain.
C165258	Cellosaurus Disease Terminology	C7464	Acute Leukemia of Ambiguous Lineage	Acute Leukemia of Ambiguous Lineage	Acute Leukemia of Indeterminate Lineage	An acute leukemia in which the blasts lack sufficient evidence to classify as myeloid or lymphoid or they have morphologic and/or immunophenotypic characteristics of both myeloid and lymphoid cells. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C3167	Acute Lymphoblastic Leukemia	Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia \|\| Precursor Cell Lymphoblastic Leukemia \|\| Precursor Lymphoblastic Leukemia	Leukemia with an acute onset, characterized by the presence of lymphoblasts in the bone marrow and the peripheral blood. It includes the acute B lymphoblastic leukemia and acute T lymphoblastic leukemia.
C165258	Cellosaurus Disease Terminology	C3170	Acute Megakaryoblastic Leukemia	Acute Megakaryoblastic Leukemia	Acute M7 Myeloid Leukemia \|\| Acute Megakaryoblastic Leukemia (FAB Type M7) \|\| Acute Megakaryocytic Leukemia	An acute myeloid leukemia in which at least 50% of the blasts are of megakaryocytic lineage. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C7171	Acute Monoblastic Leukemia	Acute Monoblastic Leukemia	Acute Monoblastic Leukemia (FAB M5a)	An acute myeloid leukemia in which the monoblasts represent 80% or more of the total cellular population. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C3171	Acute Myeloid Leukemia	Acute Myeloid Leukemia	AML - Acute Myeloid Leukemia \|\| Acute Myeloblastic Leukemia \|\| Acute Myelogenous Leukemia \|\| Acute Myelogenous Leukemias \|\| Hematopoeitic - Acute Myleogenous Leukemia (AML)	A clonal expansion of myeloid blasts in the bone marrow, blood or other tissues. The classification of acute myeloid leukemias (AMLs) encompasses four major categories: 1) AML with recurrent genetic abnormalities; 2) AML with multilineage dysplasia; 3) Therapy-related AML; 4) AML not otherwise specified. The required bone marrow or peripheral blood blast percentage for the diagnosis of AML is 20% (WHO classification).
C165258	Cellosaurus Disease Terminology	C82426	Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM	Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM	AML with MECOM Rearrangements \|\| Acute Myeloid Leukemia with MECOM Rearrangements \|\| Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, EVI1 \|\| Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2, MECOM(EVI1) \|\| Acute Myeloid Leukemia with inv(3)(q21.3;q26.2) or t(3;3)(q21.3;q26.2); GATA2::MECOM \|\| Acute Myeloid Leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1	An acute myeloid leukemia associated with inv(3)(q21.3q26.2) or t(3;3)(q21.3;q26.2) resulting in the reposition of a distal GATA2 enhancer to activate MECOM expression. It may present de novo or follow a myelodysplastic syndrome. The clinical course is aggressive.
C165258	Cellosaurus Disease Terminology	C8460	Acute Myeloid Leukemia with Minimal Differentiation	Acute Myeloid Leukemia with Minimal Differentiation	AML with Minimal Differentiation \|\| Acute Myeloblastic Leukemia with Minimal Differentiation \|\| Acute Myeloblastic Leukemia, Minimally Differentiated \|\| Acute Myelogenous Leukemia with Minimal Differentiation \|\| Acute Myeloid Leukemia with Minimal Differentiation (MO) \|\| Acute Myeloid Leukemia, Minimally Differentiated \|\| M0 Acute Myeloblastic Leukemia \|\| M0 Acute Myelogenous Leukemia \|\| M0 Acute Myelogenous Leukemia with Minimal Differentiation \|\| M0 Myeloid Leukemia \|\| M0 Myeloid Leukemia with Minimal Differentiation	An acute myeloid leukemia (AML) in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C7600	Acute Myeloid Leukemia with Myelodysplasia-Related Changes	Acute Myeloid Leukemia, Myelodysplasia-Related	AML with Myelodysplasia-Related Changes \|\| Acute Myeloid Leukemia with Myelodysplasia-Related Changes	An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood, and either a previous history of myelodysplastic syndrome, multilineage dysplasia or myelodysplastic syndrome-related cytogenetic abnormalities. There is no history of prior cytotoxic therapy for an unrelated disorder, and there is absence of the molecular abnormalities that are present in acute myeloid leukemia with recurrent genetic abnormalities.
C165258	Cellosaurus Disease Terminology	C132105	Acute Myeloid Leukemia with t(6;11)(q27;q23); KMT2A-MLLT4	Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-KMT2A	Acute Myeloid Leukemia with t(6;11)(q27;q23); MLL-MLLT4 \|\| Acute Myeloid Leukemia with t(6;11)(q27;q23.3); KMT2A-MLLT4 \|\| Acute Myeloid Leukemia with t(6;11)(q27;q23.3); KMT2A::MLLT4 \|\| Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-KMT2A Fusion \|\| Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4-MLL \|\| Acute Myeloid Leukemia with t(6;11)(q27;q23.3); MLLT4::KMT2A Fusion	An acute myeloid leukemia characterized by t(6;11)(q27;q23.3) resulting in MLLT4-KMT2A gene fusion. It is associated with an unfavorable prognosis.
C165258	Cellosaurus Disease Terminology	C7463	Acute Myelomonocytic Leukemia	Acute Myelomonocytic Leukemia	Acute M4 Myeloid Leukemia \|\| Acute Myelomonocytic Leukemia (FAB Type M4)	An acute leukemia characterized by the proliferation of both neutrophil and monocyte precursors. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C95437	Acute Pancreatitis	Acute Pancreatitis		An acute inflammatory process that leads to necrosis of the pancreatic parenchyma. Signs and symptoms include severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. Causes include alcohol consumption, presence of gallstones, trauma, and drugs.
C165258	Cellosaurus Disease Terminology	C3182	Acute Promyelocytic Leukemia with PML-RARA	Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA	AML with t(15;17)(q24.1;q21.2) \|\| Acute Promyelocytic Leukemia with PML-RARA \|\| Acute Promyelocytic Leukemia with PML::RARA \|\| Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML-RARA Fusion \|\| Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML::RARA \|\| Acute Promyelocytic Leukemia with t(15;17)(q24.1;q21.2); PML::RARA Fusion	An acute promyelocytic leukemia characterized by the reciprocal balanced translocation t(15;17)(q24.1;q21.2) that results in the fusion of the promyelocytic leukemia (PML) gene and retinoic acid receptor-? (RARA) gene. The t(15;17)(q24.1;q21.2) with the resulting PML-RARA fusion gene occurs in over 95% of cases of acute promyelocytic leukemia. The remainder of the cases show variant RARA gene translocations with other genes.
C165258	Cellosaurus Disease Terminology	C84539	Acyl-CoA Dehydrogenase, Short-Chain Deficiency	Acyl-CoA Dehydrogenase, Short-Chain Deficiency	Short-Chain Acyl-CoA Dehydrogenase Deficiency (SCAD) \|\| Short-Chain Acyl-Coenzyme A Dehydrogenase Deficiency (SCAD)	A genetic disorder characterized by deficiency of the enzyme short-chain acyl-coenzyme A dehydrogenase that metabolizes short-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia, lethargy, hypotonia and failure to thrive.
C165258	Cellosaurus Disease Terminology	C26689	Addison's Disease	Addison's Disease	Addison Disease \|\| Chronic Primary Adrenal Insufficiency	A long-standing and persistent diminished production of adrenocortical hormones due to a disorder originating within the adrenal glands.
C165258	Cellosaurus Disease Terminology	C121564	Adenine Phosphoribosyltransferase Deficiency	Adenine Phosphoribosyltransferase Deficiency		An inherited condition caused by mutations in the APRT gene that affects the kidneys and urinary tract. The most common feature of this condition is recurrent kidney stones.
C165258	Cellosaurus Disease Terminology	C21771	Adenocarcinoma of the Mouse Pulmonary System	Adenocarcinoma of the Mouse Pulmonary System
C165258	Cellosaurus Disease Terminology	C63866	Adenocarcinoma of the Rat Colon	Adenocarcinoma of the Rat Colon	Rat Colon Adenocarcinoma
C165258	Cellosaurus Disease Terminology	C63868	Adenocarcinoma of the Rat Glandular Stomach	Adenocarcinoma of the Rat Glandular Stomach	Rat Glandular Stomach Adenocarcinoma
C165258	Cellosaurus Disease Terminology	C64011	Adenocarcinoma of the Rat Mammary Gland	Adenocarcinoma of the Rat Mammary Gland
C165258	Cellosaurus Disease Terminology	C64013	Adenocarcinoma of the Rat Prostate	Adenocarcinoma of the Rat Prostate
C165258	Cellosaurus Disease Terminology	C63961	Adenocarcinoma of the Rat Uterus	Adenocarcinoma of the Rat Uterus	Rat Uterus Adenocarcinoma
C165258	Cellosaurus Disease Terminology	C21762	Adenoma of the Mouse Pulmonary System	Adenoma of the Mouse Pulmonary System
C165258	Cellosaurus Disease Terminology	C3962	Adenosine Deaminase Deficiency	Adenosine Deaminase Deficiency	ADA-SCID \|\| Adenosine Deaminase Severe Combined Immune Deficiency \|\| Adenosine Deaminase Severe Combined Immunodeficiency	An autosomal recessive deficiency of the purine salvage enzyme adenosine deaminase which results in Severe Combined Immunodeficiency Disease (SCID). The most common form of SCID, accounting for about 50% of autosomal recessive cases. The first disease for which gene therapy was applied.
C165258	Cellosaurus Disease Terminology	C9325	Adrenal Cortex Carcinoma	Adrenal Cortical Carcinoma	Adrenal Cortex Adenocarcinoma \|\| Adrenal Cortex Cancer \|\| Adrenal Cortex Carcinoma \|\| Adrenal Cortical Adenocarcinoma \|\| Adrenocortical Carcinoma \|\| Carcinoma of Adrenal Cortex \|\| Carcinoma of the Adrenal Cortex	A rare, usually large (greater than 5cm), malignant epithelial tumor arising from the adrenal cortical cells. Symptoms are usually related to the excessive production of hormones, and include Cushing's syndrome and virilism in women. Common sites of metastasis include liver, lung, bone, and retroperitoneal lymph nodes. Advanced radiologic procedures have enabled the detection of small tumors, resulting in the improvement of the 5-year survival.
C165258	Cellosaurus Disease Terminology	C129301	Adrenal Gland Hyperplasia II	Adrenal Gland Hyperplasia II	3-Beta-Hydroxysteroid Dehydrogenase Deficiency \|\| Adrenal Gland Hyperplasia, Congenital, due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Decreased activity of the enzyme 3-beta-hydroxysteroid dehydrogenase, associated with mutation(s) in the HSD3B2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia.
C165258	Cellosaurus Disease Terminology	C129302	Adrenal Gland Hyperplasia III	Adrenal Gland Hyperplasia III	21-Hydroxylase Deficieny \|\| Adrenal Gland Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency \|\| CYP21 Deficiency \|\| Congenital Adrenal Hyperplasia 1	Decreased activity of the enzyme 21-hydroxylase, associated with mutation(s) in the CYP21A2 gene. The lack of activity of this enzyme produces a type of congenital adrenal hyperplasia (CAH) and is the cause of approximately 95% of CAH.
C165258	Cellosaurus Disease Terminology	C4827	Adrenal Gland Neuroblastoma	Adrenal Gland Neuroblastoma	Adrenal Neuroblastoma \|\| Neuroblastoma of Adrenal \|\| Neuroblastoma of Adrenal Gland \|\| Neuroblastoma of the Adrenal \|\| Neuroblastoma of the Adrenal Gland	A neuroblastoma arising from the adrenal gland.
C165258	Cellosaurus Disease Terminology	C3326	Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	Adrenal Gland Chromaffin Paraganglioma \|\| Adrenal Gland Chromaffinoma \|\| Adrenal Gland Paraganglioma \|\| Adrenal Medullary Paraganglioma \|\| Adrenal Medullary Pheochromocytoma \|\| Adrenal Pheochromocytoma \|\| Chromaffin Paraganglioma of the Adrenal Gland \|\| Intraadrenal Paraganglioma \|\| Pheochromocytoma	A neuroendocrine neoplasm of the sympathetic nervous system that arises from the chromaffin cells of the adrenal medulla and secretes catecholamines. Clinical presentation includes headaches, palpitations, chest and abdominal pain, hypertension, fever, and tremor. Microscopically, a characteristic nesting (zellballen) growth pattern is usually seen. Other growth patterns including trabecular pattern may also be present.
C165258	Cellosaurus Disease Terminology	C61252	Adrenoleukodystrophy	Adrenoleukodystrophy		A rare metabolic disorder characterized by damage of the myelin sheaths in the nervous system and degeneration of the adrenal glands. It leads to progressive neurologic disorders, adrenal insufficiency and death.
C165258	Cellosaurus Disease Terminology	C7965	Adult Acute Megakaryoblastic Leukemia	Adult Acute Megakaryoblastic Leukemia	Adult Acute M7 Leukemia \|\| Adult Acute Megakaryocytic Leukemia \|\| Adult Acute Megakaryocytic Leukemia (M7) \|\| M7 Adult Acute Leukemia \|\| M7 Adult Acute Megakaryocytic Leukemia	An acute megakaryoblastic leukemia that occurs in adults.
C165258	Cellosaurus Disease Terminology	C8263	Adult Acute Monocytic Leukemia	Adult Acute Monocytic Leukemia	Adult Acute Differentiated Monocytic Leukemia (M5b) \|\| M5b Adult Acute Differentiated Monocytic Leukemia \|\| M5b Adult Acute Leukemia	An acute monocytic leukemia that occurs in adults.
C165258	Cellosaurus Disease Terminology	C9154	Adult Acute Myeloid Leukemia	Adult Acute Myeloid Leukemia	Adult AML \|\| Adult ANLL \|\| Adult Acute Myeloblastic Leukemia \|\| Adult Acute Myelogenous Leukemia \|\| Adult Acute Non-Lymphoblastic Leukemia \|\| Adult Acute NonLymphoblastic Leukemia	An acute myeloid leukemia that occurs in adults.
C165258	Cellosaurus Disease Terminology	C7961	Adult Acute Myeloid Leukemia with Maturation	Adult Acute Myeloid Leukemia with Maturation	Adult Acute Granulocytic Leukemia with Maturation \|\| Adult Acute M2 Leukemia \|\| Adult Acute Myeloblastic Leukemia with Maturation \|\| Adult Acute Myeloblastic Leukemia with Maturation (M2) \|\| Adult Acute Myelocytic Leukemia with Maturation \|\| Adult Acute Myelogenous Leukemia with Maturation \|\| M2 Adult Acute Granulocytic Leukemia \|\| M2 Adult Acute Granulocytic Leukemia with Maturation \|\| M2 Adult Acute Myeloblastic Leukemia \|\| M2 Adult Acute Myeloblastic Leukemia with Maturation \|\| M2 Adult Acute Myelocytic Leukemia \|\| M2 Adult Acute Myelocytic Leukemia with Maturation \|\| M2 Adult Acute Myelogenous Leukemia \|\| M2 Adult Acute Myelogenous Leukemia with Maturation \|\| M2 Adult Acute Myeloid Leukemia \|\| M2 Adult Acute Myeloid Leukemia with Maturation	An acute myeloid leukemia with maturation that occurs in adults.
C165258	Cellosaurus Disease Terminology	C8303	Adult Acute Myeloid Leukemia with Minimal Differentiation	Adult Acute Myeloid Leukemia with Minimal Differentiation	Adult Acute M0 Leukemia \|\| Adult Acute Minimally Differentiated Myeloid Leukemia (M0) \|\| Adult Acute Myeloblastic Leukemia with Minimal Differentiation \|\| Adult Acute Myelogenous Leukemia with Minimal Differentiation \|\| Adult Acute Myeloid Leukemia Minimally Differentiated \|\| M0 Adult AML \|\| M0 Adult ANLL \|\| M0 Adult Acute Leukemia \|\| M0 Adult Acute Myeloblastic Leukemia \|\| M0 Adult Acute Myeloblastic Leukemia with Minimal Differentiation \|\| M0 Adult Acute Myelogenous Leukemia \|\| M0 Adult Acute Myelogenous Leukemia with Minimal Differentiation \|\| M0 Adult Acute Myeloid Leukemia with Minimal Differentiation	An acute myeloid leukemia with minimal differentiation that occurs in adults.
C165258	Cellosaurus Disease Terminology	C9143	Adult B Acute Lymphoblastic Leukemia	Adult B Acute Lymphoblastic Leukemia	Adult B Cell ALL \|\| Adult B Cell Acute Lymphoblastic Leukemia \|\| Adult B-Cell ALL \|\| Adult B-Cell Acute Lymphoblastic Leukemia \|\| Adult Precursor B-Lymphoblastic Leukemia \|\| B Cell Adult ALL \|\| B Cell Adult Acute Lymphoblastic Leukemia \|\| B-Cell Adult ALL \|\| B-Cell Adult Acute Lymphoblastic Leukemia	A B acute lymphoblastic leukemia that occurs during adulthood.
C165258	Cellosaurus Disease Terminology	C114819	Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 \|\| Adult B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1	A B acute lymphoblastic leukemia that occurs during adulthood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.
C165258	Cellosaurus Disease Terminology	C7954	Adult Burkitt Leukemia	Adult Burkitt Leukemia	Adult Burkitt's Leukemia	The leukemic counterpart of Burkitt lymphoma occurring in adults. The characteristic Burkitt cells are seen in the bone marrow and the peripheral blood. This is an aggressive leukemia.
C165258	Cellosaurus Disease Terminology	C27373	Adult Desmoplastic Small Round Cell Tumor	Adult Desmoplastic Small Round Cell Tumor		A desmoplastic small round cell tumor occurring in adults.
C165258	Cellosaurus Disease Terminology	C7956	Adult Hepatocellular Carcinoma	Adult Hepatocellular Carcinoma	Adult Hepatoma \|\| Adult Primary Carcinoma of Liver Cell \|\| Adult Primary Carcinoma of the Liver Cell \|\| Adult Primary Hepatocellular Carcinoma \|\| Adult Primary Hepatoma \|\| Adult Primary Liver Cell Carcinoma	A hepatocellular carcinoma occurring in adults.
C165258	Cellosaurus Disease Terminology	C7873	Adult Immunoblastic Lymphoma	Adult Immunoblastic Lymphoma	Adult Immunoblastic Large Cell Lymphoma	A morphologic variant of diffuse large B-cell lymphoma occurring in adults. It is characterized by the presence of large lymphoid cells with abundant cytoplasm and prominent nucleoli.
C165258	Cellosaurus Disease Terminology	C68693	Adult Pure Erythroid Leukemia	Adult Pure Erythroid Leukemia		A pure erythroid leukemia that occurs in adults.
C165258	Cellosaurus Disease Terminology	C9142	Adult T Acute Lymphoblastic Leukemia	Adult T Acute Lymphoblastic Leukemia	Adult Precursor T-Lymphoblastic Leukemia \|\| Adult T-Acute Lymphoblastic Leukemia \|\| Adult T-Cell Acute Lymphoblastic Leukemia \|\| T Cell Adult ALL \|\| T-Cell Adult ALL	A T acute lymphoblastic leukemia occurring in adults.
C165258	Cellosaurus Disease Terminology	C7226	Adult T Lymphoblastic Lymphoma	Adult T Lymphoblastic Lymphoma	Adult Precursor T-Lymphoblastic Lymphoma	T lymphoblastic lymphoma occurring in adults.
C165258	Cellosaurus Disease Terminology	C3184	Adult T-Cell Leukemia/Lymphoma	Adult T-Cell Leukemia/Lymphoma	ATLL \|\| Adult T Cell Lymphoma/Leukemia \|\| Adult T-Cell Lymphoma/Leukemia \|\| HTLV-1 Associated Adult T-Cell Lymphoma/Leukemia \|\| HTLV-I Associated Adult T-Cell Leukemia/Lymphoma	A peripheral (mature) T-cell neoplasm linked to the human T-cell leukemia virus type 1 (HTLV-1). Adult T-cell leukemia/lymphoma is endemic in several regions of the world, in particular Japan, the Caribbean, and parts of Central Africa.
C165258	Cellosaurus Disease Terminology	C153289	Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia	Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia	HDLS \|\| Hereditary Diffuse Leukoencephalopathy with Spheroids \|\| POLD \|\| Pigmentary Orthochromatic Leukodystrophy	A rapidly progressive neurodegenerative disorder, caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene, that presents in adulthood with a variety of neuropsychiatric and motor disturbances. Hallmark features include diffuse myelin loss and axonal destruction, neuroaxonal spheroids, and pigmented macrophages and other glia.
C165258	Cellosaurus Disease Terminology	C197832	Adult-Onset Still's Disease	Adult-Onset Still's Disease		Still disease presenting in adulthood.
C165258	Cellosaurus Disease Terminology	C84391	Age-Related Macular Degeneration	Age-Related Macular Degeneration	Age-Related Macular Degeneration	Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
C165258	Cellosaurus Disease Terminology	C187704	Age-Related Macular Degeneration-13	Age-Related Macular Degeneration-13		An autosomal dominant subtype of age-related macular degeneration associated with mutation(s) in the CFI gene, encoding complement factor I.
C165258	Cellosaurus Disease Terminology	C174215	Age-Related Macular Degeneration-4	Age-Related Macular Degeneration-4		A subtype of age-related macular degeneration associated with mutation(s) in the CFH gene, encoding complement factor H.
C165258	Cellosaurus Disease Terminology	C165501	Aicardi-Goutieres Syndrome 1	Aicardi-Goutieres Syndrome 1	AGS1 \|\| Cree Encephalitis \|\| Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis \|\| Pseudotoxoplasmosis Syndrome	A heritable condition, caused by mutation(s) in the TREX1 gene, encoding three-prime repair exonuclease 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
C165258	Cellosaurus Disease Terminology	C165673	Aicardi-Goutieres Syndrome 2	Aicardi-Goutieres Syndrome 2		An inherited, usually autosomal recessive condition cause by mutation(s) in the RNASEH2B gene, encoding ribonuclease H2 subunit B. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
C165258	Cellosaurus Disease Terminology	C168564	Aicardi-Goutieres Syndrome 5	Aicardi-Goutieres Syndrome 5	AGS5	A genetic condition usually inherited in an autosomal recessive pattern. It is cause by mutation(s) in the SAMHD1 gene, encoding deoxynucleoside triphosphate triphosphohydrolase SAMHD1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
C165258	Cellosaurus Disease Terminology	C206070	Aicardi-Goutieres Syndrome 6	Aicardi-Goutieres Syndrome 6		An autosomal recessive condition caused by mutation(s) in the ADAR gene, encoding double-stranded RNA-specific adenosine deaminase. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
C165258	Cellosaurus Disease Terminology	C168585	Aicardi-Goutieres Syndrome 7	Aicardi-Goutieres Syndrome 7	AGS7	A genetic condition usually inherited in an autosomal dominant pattern. It is cause by mutation(s) in the IFIH1 gene, encoding interferon-induced helicase C domain-containing protein 1. Clinical features and onset may vary significantly, but is characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, and increased concentrations of CSF alpha-interferon.
C165258	Cellosaurus Disease Terminology	C8286	AIDS-Related Burkitt Lymphoma	AIDS-Related Burkitt Lymphoma	AIDS Related Burkitt's Lymphoma \|\| AIDS-Associated Burkitt's Lymphoma \|\| AIDS-Related Burkitt's Lymphoma	A Burkitt lymphoma occurring in HIV-positive patients.
C165258	Cellosaurus Disease Terminology	C7213	AIDS-Related Diffuse Large Cell Lymphoma			A diffuse large cell lymphoma developing in an HIV positive patient.
C165258	Cellosaurus Disease Terminology	C8285	AIDS-Related Immunoblastic Lymphoma	AIDS-Related Immunoblastic Lymphoma	AIDS Associated Immunoblastic Lymphoma \|\| AIDS Related Immunoblastic Large Cell Lymphoma \|\| AIDS-Associated Immunoblastic Large Cell Lymphoma	A morphologic variant of diffuse large B-cell lymphoma occurring in HIV-positive patients.
C165258	Cellosaurus Disease Terminology	C3992	AIDS-Related Kaposi Sarcoma	AIDS-Related Kaposi Sarcoma	AIDS Related Kaposi's Sarcoma \|\| AIDS, Kaposi's Sarcoma \|\| AIDS-Related Kaposi's Sarcoma \|\| Autoimmune Deficiency Syndrome-Related Kaposi Sarcoma \|\| Epidemic Kaposi's Sarcoma \|\| Kaposi's Sarcoma AIDS Related \|\| Kaposi's Sarcoma Epidemic Type	The most aggressive form of Kaposi sarcoma. It presents in patients who are infected with the human immunodeficiency virus. It can affect the skin and internal organs.
C165258	Cellosaurus Disease Terminology	C5051	AIDS-Related Non-Hodgkin Lymphoma	AIDS-Related Non-Hodgkin Lymphoma	AIDS-Related Non-Hodgkin's Lymphoma	A non-Hodgkin lymphoma that develops in a patient with AIDS.
C165258	Cellosaurus Disease Terminology	C158963	AL Amyloidosis	AL Amyloidosis	Ig Light Chain Amyloidosis \|\| Immunoglobulin-Related Amyloidosis	The most common type of amyloidosis. It is characterized by the monoclonal deposition of immunoglobulin light chain fragments in organs and tissues. It is associated with plasma cell or B-cell lymphoproliferative disorders.
C165258	Cellosaurus Disease Terminology	C202544	Alacrima, Achalasia, and Impaired Intellectual Development Syndrome	Alacrima, Achalasia, and Impaired Intellectual Development Syndrome		An autosomal recessive condition caused by mutation(s) in the GMPPA gene, encoding mannose-1-phosphate guanyltransferase alpha. It is characterized by alacrima, achalasia, and impaired intellectual development.
C165258	Cellosaurus Disease Terminology	C35139	Alagille Syndrome	Alagille Syndrome	Arteriohepatic Dysplasia	An autosomal dominant genetic syndrome caused by mutations in the JAG1 gene. It is characterized by cholestatic jaundice in infancy, hepatosplenomegaly, distinctive facial features (prominent forehead, elongated nose, and pointed chin), cardiac murmurs, bone malformations, and sometimes mild mental retardation.
C165258	Cellosaurus Disease Terminology	C84543	Albinism	Albinism		A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin.
C165258	Cellosaurus Disease Terminology	C118434	Albright's Hereditary Osteodystrophy	Albright's Hereditary Osteodystrophy	Albright's Hereditary Osteodystrophy with Multiple Hormone Resistance \|\| PHP1A \|\| Pseudohypoparathyroidism, Type IA	A rare, autosomal dominant syndrome caused by mutations in the GNAS gene. It is characterized by the presence of short stature, obesity, round face, brachydactyly, subcutaneous ossifications, and pseudohypoparathtyroidism.
C165258	Cellosaurus Disease Terminology	C34782	Alcoholic Cirrhosis	Alcoholic Cirrhosis		A disorder of the liver characterized by the presence of fibrotic scar tissue instead of healthy liver tissue. This condition is attributed to excessive consumption of alcoholic beverages.
C165258	Cellosaurus Disease Terminology	C84545	Alexander Disease	Alexander Disease		A rare genetic neurodegenerative disorder which belongs to the group of leukodystrophies. It has a slow and progressive clinical course and is characterized by developmental delay, macrocephaly, seizures, dementia and spasticity.
C165258	Cellosaurus Disease Terminology	C84546	Alkaptonuria	Alkaptonuria		A rare autosomal recessive disorder characterized by abnormalities in the metabolism of phenylalanine and tyrosine. It results in the accumulation in the blood of homogentisic acid which is excreted in the urine. The presence of homogentisic acid in the urine causes its color to turn black. The excessive amount of homogentisic acid in the blood may cause damage to cartilage and heart valves, and may result in the formation of kidney stones.
C165258	Cellosaurus Disease Terminology	C118843	Allan-Herndon-Dudley Syndrome	Allan-Herndon-Dudley Syndrome		A rare, X-linked recessive inherited syndrome caused by mutations in the SLC16A2 (MCT8) gene. It affects exclusively males and is characterized by mental retardation, limited mobility, muscle hypoplasia, hypotonia, contractures, and spasticity.
C165258	Cellosaurus Disease Terminology	C79532	Allergic Rhinitis	Allergic Rhinitis		Inflammation of the nasal mucous membranes caused by an IgE-mediated response to external allergens. The inflammation may also involve the mucous membranes of the sinuses, eyes, middle ear, and pharynx. Symptoms include sneezing, nasal congestion, rhinorrhea, and itching. It may lead to fatigue, drowsiness, and malaise thus causing impairment of the quality of life.
C165258	Cellosaurus Disease Terminology	C50575	Alopecia	Alopecia	Alopecia Areata \|\| Hair Loss	Hair loss usually from the scalp. It may result in bald spots or spread to the entire scalp or the entire epidermis. It may be androgenetic or caused by chemotherapeutic agents, compulsive hair pulling, autoimmune disorders or congenital conditions.
C165258	Cellosaurus Disease Terminology	C34368	Alpha Thalassemia	Alpha Thalassemia		A genetic hematologic disorder characterized by partial or complete absence of the alpha globin chains of the heme molecule.
C165258	Cellosaurus Disease Terminology	C118631	Alpha Thalassemia X-Linked Mental Retardation Syndrome	Alpha Thalassemia X-Linked Mental Retardation Syndrome	Alpha Thalassemia/Mental Retardation Syndrome X-Linked	A rare, X-linked recessive inherited syndrome caused by mutations in the ATRX gene. It is characterized by intellectual disability, developmental delays, hypotonia, widely spaced eyes, small nose, low-set ears, tented upper lip, skeletal abnormalities, and a mild form of alpha thalassemia.
C165258	Cellosaurus Disease Terminology	C84397	Alpha-1 Antitrypsin Deficiency	Alpha-1 Antitrypsin Deficiency		A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.
C165258	Cellosaurus Disease Terminology	C84548	Alpha-Mannosidosis	Alpha-Mannosidosis		An autosomal recessive lysosomal storage disease characterized by deficient activity of the enzyme alpha-D-mannosidase. There is a wide range of signs and symptoms including hepatomegaly, splenomegaly, hearing loss, respiratory infections, mental retardation, skeletal abnormalities, leveled nasal bridge and protruding forehead.
C165258	Cellosaurus Disease Terminology	C98841	Alpha-Methylacetoacetic Aciduria	Alpha-Methylacetoacetic Aciduria	3-Ketothiolase Deficiency \|\| Beta-Ketothiolase Deficiency	A rare autosomal recessive inherited disorder caused by mutations in the ACAT1 gene. It is characterized by the reduction or elimination of the enzyme mitochondrial acetoacetyl-CoA thiolase which is responsible for the metabolism of the amino acid isoleucine and ketone-body metabolism. Signs and symptoms appear early in life and include vomiting, dehydration, breathing difficulties, seizures, lethargy, and coma.
C165258	Cellosaurus Disease Terminology	C34842	Alport Syndrome	Alport Syndrome	Alport's Syndrome \|\| Hereditary Nephritis	A genetic syndrome usually inherited as an X-link trait. It is caused by abnormalities in the COL4A5 gene. It affects males more often than females and is characterized by hematuria, progressive renal insufficiency, hearing loss, and ocular abnormalities.
C165258	Cellosaurus Disease Terminology	C84549	Alstrom Syndrome	Alstrom Syndrome	Alstr�m Syndrome	A rare autosomal recessive syndrome caused by mutations in the gene ALMS1. Signs and symptoms include blindness, obesity, hearing loss, endocrine abnormalities, cardiomyopathy and congestive heart failure, hepatic and renal failure.
C165258	Cellosaurus Disease Terminology	C98809	Alveolar Capillary Dysplasia	Alveolar Capillary Dysplasia		A rare lethal congenital abnormality that refers to the abnormal development of the capillaries around the alveoli in the lung parenchyma. It manifests as respiratory distress and persistent pulmonary hypertension in infancy.
C165258	Cellosaurus Disease Terminology	C3749	Alveolar Rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	Monomorphous Round Cell Rhabdomyosarcoma	A rapidly growing malignant mesenchymal neoplasm. It is characterized by the presence of round cells with myoblastic differentiation and a fibrovascular stroma resembling an alveolar growth pattern. The tumor usually presents in the extremities.
C165258	Cellosaurus Disease Terminology	C170774	Alveolar Ridge Squamous Cell Carcinoma	Alveolar Ridge Squamous Cell Carcinoma		Squamous cell carcinoma arising from the upper or lower alveolar ridge.
C165258	Cellosaurus Disease Terminology	C3750	Alveolar Soft Part Sarcoma	Alveolar Soft Part Sarcoma		A rare malignant neoplasm characterized by the presence of large epithelioid cells with abundant cytoplasm forming nests and pseudoalveolar structures. The groups of the epithelioid cells are separated by thin-walled sinusoidal spaces. It occurs most often in adolescents and young adults. In adults the most common sites of involvement are the extremities, and in infants and children, the head and neck. It usually presents as a slowly growing mass and it frequently metastasizes to other anatomic sites. The most common sites of metastasis are the lungs, bone, and brain.
C165258	Cellosaurus Disease Terminology	C206083	Alzheimer Disease 9, Late-Onset	Alzheimer Disease 9, Late-Onset		An autosomal dominant subtype of Alzheimer disease caused by mutation(s) in the ABCA7 gene, encoding phospholipid-transporting ATPase ABCA7. The onset is after the age of 65.
C165258	Cellosaurus Disease Terminology	C2866	Alzheimer's Disease	Alzheimer's Disease	Alzheimer Disease \|\| Alzheimer's Dementia	A progressive, neurodegenerative disease characterized by loss of function and death of nerve cells in several areas of the brain leading to loss of cognitive function such as memory and language.
C165258	Cellosaurus Disease Terminology	C146894	Alzheimer's Disease 1	Alzheimer's Disease 1	Familial Alzheimer's Disease, Type 1	Alzheimer's disease caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The onset of this condition typically occurs before age 65.
C165258	Cellosaurus Disease Terminology	C169104	Alzheimer's Disease 17	Alzheimer's Disease 17	Alzheimer Disease 17	A form of Alzheimer's disease associated with mutation(s) in the TREM2 gene, encoding triggering receptor expressed on myeloid cells 2.
C165258	Cellosaurus Disease Terminology	C123412	Alzheimer's Disease 3	Alzheimer's Disease 3	AD3 \|\| Familial Alzheimer Disease, Type 3 \|\| Familial Alzheimer's Disease, Type 3	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.
C165258	Cellosaurus Disease Terminology	C123413	Alzheimer's Disease 4	Alzheimer's Disease 4	Familial Alzheimer Disease, Type 4 \|\| Familial Alzheimer's Disease, Type 4	Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN2 gene.
C165258	Cellosaurus Disease Terminology	C185246	AMeD Syndrome	AMeD Syndrome	Aplastic Anemia, Mental Retardation and Dwarfism Syndrome \|\| Bone Marrow Failure Syndrome 7, Digenic \|\| Fanconi Anemia-Like IBMFS \|\| Fanconi Anemia-Like Inherited Bone Marrow Failure Syndrome	A digenic recessive condition caused by mutation(s) in the ADH5 gene accompanied by a specific mutation in the ALDH2 gene. It is characterized by global developmental delay, impaired intellectual development, bone marrow failure, and myelodysplastic syndrome.
C165258	Cellosaurus Disease Terminology	C4633	Amelanotic Cutaneous Melanoma	Amelanotic Cutaneous Melanoma	Amelanotic Malignant Melanoma (of Skin) \|\| Amelanotic Malignant Melanoma of Skin \|\| Amelanotic Malignant Melanoma of the Skin \|\| Amelanotic Malignant Skin Melanoma \|\| Amelanotic Melanoma of Skin \|\| Amelanotic Melanoma of the Skin \|\| Amelanotic Skin Melanoma	A rare cutaneous melanoma where most of the melanoma tumor cells are devoid of melanin pigment. Amelanotic melanomas are more likely to present at a more advanced stage of disease, compared with pigmented melanomas.
C165258	Cellosaurus Disease Terminology	C3802	Amelanotic Melanoma	Amelanotic Melanoma		A melanoma characterized by the complete absence of melanin pigment in the melanoma cells. It occurs more frequently on the face and it is often associated with desmoplastic reaction.
C165258	Cellosaurus Disease Terminology	C4313	Ameloblastoma	Ameloblastoma		The most common odontogenic tumor, arising from the epithelial component of the embryonic tooth and usually affecting the molar-ramus region of the mandible or maxilla. Although most ameloblastomas are morphologically and clinically benign, they may cause extensive local destruction, recur, or metastasize.
C165258	Cellosaurus Disease Terminology	C6650	Ampulla of Vater Adenocarcinoma	Ampulla of Vater Adenocarcinoma	Adenocarcinoma of Ampulla of Vater \|\| Ampullary Adenocarcinoma \|\| Invasive Adenocarcinoma of the Ampullary Region	An invasive carcinoma with glandular differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.
C165258	Cellosaurus Disease Terminology	C27418	Ampulla of Vater Adenosquamous Carcinoma	Ampulla of Vater Adenosquamous Carcinoma		A carcinoma with glandular and squamous differentiation arising from the ampulla of Vater. Signs and symptoms include jaundice, abdominal pain, anorexia, nausea, vomiting, and weight loss.
C165258	Cellosaurus Disease Terminology	C95966	Ampulla of Vater Hepatoid Adenocarcinoma	Ampulla of Vater Hepatoid Adenocarcinoma		A very rare adenocarcinoma that arises from the ampulla of Vater. It is usually of the intestinal type and is characterized by the presence of malignant polygonal cells with abundant eosinophilic cytoplasm resembling hepatocytes.
C165258	Cellosaurus Disease Terminology	C34373	Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	Lou Gehrig Disease	A neurodegenerative disorder characterized by progressive degeneration of the motor neurons of the central nervous system. It results in weakness and atrophy of the muscles which leads to an inability to initiate and control voluntary movements.
C165258	Cellosaurus Disease Terminology	C168749	Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis 1		An inherited form of amyotrophic lateral sclerosis, usually inherited in an autosomal dominant pattern, caused by mutation(s) in the SOD1 gene, encoding superoxide dismutase.
C165258	Cellosaurus Disease Terminology	C168752	Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 10, With or Without Frontotemporal Dementia		An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the TARDBP gene, encoding TAR DNA-binding protein 43.
C165258	Cellosaurus Disease Terminology	C168753	Amyotrophic Lateral Sclerosis 11	Amyotrophic Lateral Sclerosis 11		An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase.
C165258	Cellosaurus Disease Terminology	C168754	Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia		A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the VCP gene, encoding transitional endoplasmic reticulum ATPase.
C165258	Cellosaurus Disease Terminology	C168755	Amyotrophic Lateral Sclerosis 21	Amyotrophic Lateral Sclerosis 21		An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the MATR3 gene, encoding matrin-3.
C165258	Cellosaurus Disease Terminology	C178411	Amyotrophic Lateral Sclerosis 23	Amyotrophic Lateral Sclerosis 23		An autosomal dominant subtype of amyotrophic lateral sclerosis caused by mutation(s) in the ANXA11 gene, encoding annexin A11.
C165258	Cellosaurus Disease Terminology	C189922	Amyotrophic Lateral Sclerosis 25	Amyotrophic Lateral Sclerosis 25		An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the KIF5A gene, encoding kinesin heavy chain isoform 5A.
C165258	Cellosaurus Disease Terminology	C168750	Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis 6, With or Without Frontotemporal Dementia		A form of amyotrophic lateral sclerosis caused by heterozygous mutation(s) in the FUS gene, encoding RNA-binding protein FUS.
C165258	Cellosaurus Disease Terminology	C168751	Amyotrophic Lateral Sclerosis 8	Amyotrophic Lateral Sclerosis 8		An autosomal dominant form of amyotrophic lateral sclerosis caused by mutation(s) in the VAPB gene, encoding vesicle-associated membrane protein-associated protein B/C.
C165258	Cellosaurus Disease Terminology	C96549	Anal Canal Neuroendocrine Carcinoma	Anal Canal Neuroendocrine Carcinoma	Anal Canal High Grade Neuroendocrine Carcinoma \|\| Anal Canal NEC \|\| Anal Canal NEC G3 \|\| Anal High Grade Neuroendocrine Carcinoma \|\| Anal NEC \|\| Anal NEC G3 \|\| Anal Neuroendocrine Carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the anal canal. The mitotic count is more than 20 per 10 HPF. It is classified as either small or large cell neuroendocrine carcinoma based on the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm.
C165258	Cellosaurus Disease Terminology	C9161	Anal Squamous Cell Carcinoma	Anal Squamous Cell Carcinoma	Epidermoid Anal Carcinoma \|\| Epidermoid Carcinoma of Anus \|\| Epidermoid Carcinoma of the Anus \|\| Squamous Cell Anal Carcinoma \|\| Squamous Cell Carcinoma of Anus \|\| Squamous Cell Carcinoma of the Anus	A squamous cell carcinoma (SCC) arising from the anal canal or the anal margin (perianal skin). Human papillomavirus is detected in the majority of cases. Homosexual HIV-positive men have an increased risk of developing anal squamous cell carcinoma in comparison to the general male population. Symptoms include anal pruritus, discomfort when sitting, pain, change in bowel habit, and bleeding. The prognosis is generally better for anal margin SCC than for anal canal SCC.
C165258	Cellosaurus Disease Terminology	C124851	Analbuminemia	Analbuminemia		A rare, autosomal recessive inherited disorder characterized by the absence or severe reduction of circulating human serum albumin.
C165258	Cellosaurus Disease Terminology	C9477	Anaplastic Astrocytoma	Anaplastic Astrocytoma	Grade 3 Astrocytic Neoplasm \|\| Grade 3 Astrocytic Tumor \|\| Grade 3 Astrocytoma \|\| Grade III Astrocytic Neoplasm \|\| Grade III Astrocytic Tumor \|\| Grade III Astrocytoma \|\| High Grade Astrocytoma \|\| High-Grade Astrocytoma \|\| Malignant Astrocytoma	A diffusely infiltrating, WHO grade 3 astrocytoma with focal or dispersed anaplasia, and a marked proliferative potential. It may arise from a low-grade astrocytoma, but it can also be diagnosed at first biopsy, without indication of a less malignant precursor lesion. It has an intrinsic tendency for malignant progression to glioblastoma. (WHO)
C165258	Cellosaurus Disease Terminology	C3720	Anaplastic Large Cell Lymphoma	Anaplastic Large Cell Lymphoma	CD30 Positive Anaplastic Large Cell Lymphoma	A peripheral (mature) T-cell lymphoma, consisting of usually large anaplastic, CD30 positive cells. The majority of cases are positive for the anaplastic large cell lymphoma (ALK) protein. The most frequently seen genetic alteration is a t(2;5) translocation. Majority of patients present with advanced disease. The most important prognostic indicator is ALK positivity, which has been associated with a favorable prognosis. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C37194	Anaplastic Large Cell Lymphoma, ALK-Negative	Anaplastic Large Cell Lymphoma, ALK-Negative	ALK-Negative Anaplastic Large Cell Lymphoma	A T-cell peripheral lymphoma morphologically indistinguishable from anaplastic large cell lymphoma, ALK-positive. It is characterized by the absence of the translocation involving the ALK gene and lacks expression of ALK fusion protein.
C165258	Cellosaurus Disease Terminology	C37193	Anaplastic Large Cell Lymphoma, ALK-Positive	Anaplastic Large Cell Lymphoma, ALK-Positive	ALK-Positive Anaplastic Large Cell Lymphoma \|\| ALKoma	A T-cell peripheral lymphoma composed of usually large, pleomorphic, CD30 positive T-lymphocytes with abundant cytoplasm. It is characterized by the presence of a translocation involving the ALK gene and expression of ALK fusion protein. Most patients present with peripheral and/or abdominal lymphadenopathy, and often have advanced disease and extranodal involvement.
C165258	Cellosaurus Disease Terminology	C6959	Anaplastic Oligoastrocytoma	Anaplastic Oligoastrocytoma	Anaplastic Mixed Glioma \|\| WHO Grade 3 Mixed Glioma \|\| WHO Grade III Mixed Glioma	An oligoastrocytoma characterized by the presence of increased cellularity, nuclear atypia, pleomorphism, and high mitotic activity.
C165258	Cellosaurus Disease Terminology	C4326	Anaplastic Oligodendroglioma	Anaplastic Oligodendroglioma	Malignant Oligodendroglioma \|\| Oligodendroglioma, Malignant \|\| Undifferentiated Oligodendroglioma \|\| WHO Grade 3 Oligodendroglial Neoplasm \|\| WHO Grade 3 Oligodendroglial Tumor \|\| WHO Grade III Oligodendroglial Neoplasm \|\| WHO Grade III Oligodendroglial Tumor	A WHO grade 3 oligodendroglioma with focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity).
C165258	Cellosaurus Disease Terminology	C27226	Androgen Insensitivity Syndrome	Androgen Insensitivity Syndrome	Androgen Resistance Syndrome \|\| Testicular Feminization Syndrome	A disorder of sexual development in persons with 46XY karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.
C165258	Cellosaurus Disease Terminology	C2869	Anemia	Anemia		A reduction in the number of red blood cells, the amount of hemoglobin, and/or the volume of packed red blood cells. Clinically, anemia represents a reduction in the oxygen-transporting capacity of a designated volume of blood, resulting from an imbalance between blood loss (through hemorrhage or hemolysis) and blood production. Signs and symptoms of anemia may include pallor of the skin and mucous membranes, shortness of breath, palpitations of the heart, soft systolic murmurs, lethargy, and fatigability.
C165258	Cellosaurus Disease Terminology	C84560	Anencephaly	Anencephaly		A rare neural tube defect during pregnancy, resulting in the absence of a large portion of the brain and skull in the fetus.
C165258	Cellosaurus Disease Terminology	C133885	Anetoderma	Anetoderma		A dermatologic condition characterized by focal loss of elastic tissue. Clinically it presents with atrophic depressions or saccular outpouchings of the skin.
C165258	Cellosaurus Disease Terminology	C75462	Angelman Syndrome	Angelman Syndrome		A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.
C165258	Cellosaurus Disease Terminology	C3088	Angiosarcoma	Angiosarcoma		A malignant tumor arising from the endothelial cells of the blood vessels. Microscopically, it is characterized by frequently open vascular anastomosing and branching channels. The malignant cells that line the vascular channels are spindle or epithelioid and often display hyperchromatic nuclei. Angiosarcomas most frequently occur in the skin and breast. Patients with long-standing lymphedema are at increased risk of developing angiosarcoma.
C165258	Cellosaurus Disease Terminology	C34639	Angle Closure Glaucoma	Angle Closure Glaucoma	Closed Angle Glaucoma \|\| Narrow Angle Glaucoma \|\| Primary Angle Closure Glaucoma	The sudden increase of intraocular pressure, resulting in pain and an abrupt decrease in visual acuity.
C165258	Cellosaurus Disease Terminology	C84562	Anhidrotic Ectodermal Dysplasia 1	Anhidrotic Ectodermal Dysplasia 1		A rare genetic disorder characterized by mutations in the gene encoding ectodysplasin A. It results in abnormalities in the morphogenesis of the structures originating from the ectoderm.
C165258	Cellosaurus Disease Terminology	C84563	Aniridia	Aniridia		A rare genetic inherited abnormality characterized by the partial or complete absence of the iris of the eye.
C165258	Cellosaurus Disease Terminology	C157576	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate		An autosomal dominant condition caused by mutation(s) in the TP63 gene, encoding tumor protein 63. It is characterized by congenital ectodermal dysplasia, ankyloblepharon filiforme adnatum, and cleft lip/palate.
C165258	Cellosaurus Disease Terminology	C84564	Ankylosing Spondylitis	Ankylosing Spondylitis		An autoimmune chronic inflammatory disorder characterized by inflammation in the vertebral joints of the spine and sacroiliac joints. It predominantly affects young males. Patients present with stiffness and pain in the spine.
C165258	Cellosaurus Disease Terminology	C34387	Anorexia Nervosa	Anorexia Nervosa		A disorder most often seen in adolescent females characterized by a refusal to maintain a minimally normal body weight, an intense fear of gaining weight, a disturbance in body image, and, in postmenarcheal females, the development of amenorrhea.
C165258	Cellosaurus Disease Terminology	C35798	Anti-Basement Membrane Glomerulonephritis	Anti-Basement Membrane Glomerulonephritis		Inflammation of the glomeruli secondary to presence of autoantibodies directed at specific antigenic targets within the glomerular basement membrane, causing hematuria, proteinuria, and impaired renal function.
C165258	Cellosaurus Disease Terminology	C61283	Antiphospholipid Syndrome	Antiphospholipid Syndrome	Antiphospholipid Antibody Syndrome	A disorder caused by the presence of autoantibodies directed against phospholipids, causing a hypercoaguable state, which may result in blood clots, stroke, heart attack, and in women, significant pregnancy-related complications, including miscarriage and still birth. The syndrome is often associated with other autoimmune disorders, most commonly lupus erythematosus, and infections, including syphilis and Lyme disease.
C165258	Cellosaurus Disease Terminology	C98815	Antithrombin III Deficiency	Antithrombin III Deficiency		A rare disorder characterized by the presence of low levels of antithrombin III which prohibits the formation of blood clots. It may be inherited, usually in an autosomal dominant pattern, or acquired. It may lead to venous thrombosis and pulmonary embolism.
C165258	Cellosaurus Disease Terminology	C178415	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis	Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis		An autosomal recessive condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is exceptionally rare, characterized by craniosynostosis, radiohumeral synostosis, genital anomalies, and impaired steroidogenesis.
C165258	Cellosaurus Disease Terminology	C2878	Anxiety Disorder	Anxiety Disorder		A category of psychiatric disorders which are characterized by anxious feelings or fear often accompanied by physical symptoms associated with anxiety.
C165258	Cellosaurus Disease Terminology	C50461	Aortic Dissection	Aortic Dissection		A progressive tear in the tissue lining the aorta, characterized by the passage of blood from the tunica intima into, and partially through, the tunica media.
C165258	Cellosaurus Disease Terminology	C192088	Aortic Valve Disease 1	Aortic Valve Disease 1	AOVD1	An autosomal dominant form of bicuspid aortic valve caused by mutation(s) in the NOTCH1 gene, encoding neurogenic locus notch homolog protein 1.
C165258	Cellosaurus Disease Terminology	C50462	Aortic Valve Stenosis	Aortic Valve Stenosis	Aortic Valve Stenosis	Narrowing of the orifice of the aortic valve.
C165258	Cellosaurus Disease Terminology	C2870	Aplastic Anemia	Aplastic Anemia		Anemia resulting from bone marrow failure (aplastic or hypoplastic bone marrow). The production of erythroblasts and red cells is markedly decreased, and it may be associated with decreased production of granulocytes (granulocytopenia) and platelets (thrombocytopenia) as well. Aplastic anemia may be idiopathic or secondary due to bone marrow damage by toxins, radiation, or immunologic factors.
C165258	Cellosaurus Disease Terminology	C99081	Arakawa Syndrome II	Arakawa Syndrome II	Arakawa's Syndrome 2 \|\| Arakawa's Syndrome II \|\| Homocystinuria-Megaloblastic Anemia, cblG Complementation Type \|\| Methylcobalamin Deficiency, cblG Type \|\| Tetrahydrofolate Methyltransferase Deficiency	A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly.
C165258	Cellosaurus Disease Terminology	C84568	Argininemia	Argininemia	Hyperargininemia	A rare autosomal recessive metabolic disorder characterized by a deficiency of the enzyme arginase resulting in accumulation of arginine and urea in the blood and cerebrospinal fluid. Signs and symptoms include developmental delays, spasticity, ataxia, seizures and mental retardation.
C165258	Cellosaurus Disease Terminology	C84569	Argininosuccinic Aciduria	Argininosuccinic Aciduria	Argininosuccinate Lyase Deficiency	A genetic inherited disorder caused by mutations in the ASL gene. It is characterized by accumulation of ammonia in the blood. It presents with lethargy in the first few days of life, accompanied by developmental delay and mental retardation.
C165258	Cellosaurus Disease Terminology	C84570	Arnold-Chiari Malformation	Arnold-Chiari Malformation		A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.
C165258	Cellosaurus Disease Terminology	C142085	Aromatic L-Amino-Acid Decarboxylase Deficiency	Aromatic L-Amino-Acid Decarboxylase Deficiency	AADC Deficiency	An autosomal recessive condition caused by mutation(s) in the DDC gene, encoding aromatic-L-amino-acid decarboxylase. It is characterized by combined serotonin and catecholamine deficiency, resulting in severe neurologic dysfunction usually beginning in infancy or childhood.
C165258	Cellosaurus Disease Terminology	C178417	Arrhythmia-Induced Cardiomyopathy	Arrhythmia-Induced Cardiomyopathy		A reversible cardiomyopathy presumed to result from the presence of arrhythmias, including the tachycardia-induced cardiomyopathy (T-CM), atrial fibrillation-induced cardiomyopathy (AF-CM), and premature ventricular contraction-induced cardiomyopathy (PVC-CM).
C165258	Cellosaurus Disease Terminology	C84571	Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic RVD \|\| Arrhythmogenic Right Ventricular Cardiomyopathy \|\| Right Ventricular Dysplasia	A rare genetic disorder characterized by cardiomyopathy affecting the right ventricle. The heart tissue is replaced by fibrous and adipose tissues. It is characterized by ventricular arrhythmia and right ventricular dysfunction. It is a cause of sudden death.
C165258	Cellosaurus Disease Terminology	C201591	Arterial Calcification due to Deficiency of CD73	Arterial Calcification due to Deficiency of CD73		An autosomal recessive condition caused by mutation(s) in the NT5E gene, encoding 5'-nucleotidase. Deficiency in this enzyme (also know as CD73 antigen) results in arterial calcification of the lower extremities, and the joints affecting the hands and feet.
C165258	Cellosaurus Disease Terminology	C99704	Arterial Dissection	Arterial Dissection		A tear within the wall of the artery.
C165258	Cellosaurus Disease Terminology	C36192	Arteriovenous Fistula	Arteriovenous Fistula	AV Fistula \|\| Pathologic AV Fistula	An unintended connection between an artery and vein.
C165258	Cellosaurus Disease Terminology	C2882	Arteriovenous Hemangioma/Malformation	Arteriovenous Malformation	Arteriovenous Angioma \|\| Arteriovenous Hemangioma \|\| Arteriovenous Hemangioma/Malformation \|\| Arteriovenous Malformation \|\| Arteriovenous Malformation/Hemangioma	A benign vascular lesion characterized by the presence of a complex network of communicating arterial and venous vascular structures.
C165258	Cellosaurus Disease Terminology	C84572	Arthrogryposis	Arthrogryposis		A rare, non-progressive congenital disorder characterized by multiple joint contractures which are present at birth.
C165258	Cellosaurus Disease Terminology	C7542	Askin Tumor	Askin Tumor	Askin's Tumor \|\| PNET of Thoracopulmonary Region \|\| Peripheral Neuroectodermal Tumor of Thoracopulmonary Region \|\| Small Cell Tumor of Thoracopulmonary Region	A primitive neuroectodermal tumor (small round blue cell tumor) of the thorax which can involve the periosteum, thoracic wall and/or pleura though it spares the lung parenchyma.
C165258	Cellosaurus Disease Terminology	C168586	Asparagine Synthetase Deficiency	Asparagine Synthetase Deficiency	ASNSD	An autosomal recessive condition caused by mutation(s) in the ASNS gene, encoding asparagine synthetase. It is characterized by microcephaly, severely delayed psychomotor development, progressive encephalopathy, seizures, and cortical atrophy.
C165258	Cellosaurus Disease Terminology	C61273	Aspartylglycosaminuria	Aspartylglycosaminuria	Aspartylglucosaminuria	A rare autosomal recessive lysosomal disorder characterized by deficiency of N-aspartyl-beta-glucosaminidase. It is characterized by developmental delays during childhood.
C165258	Cellosaurus Disease Terminology	C97147	Associated Pulmonary Arterial Hypertension	Associated Pulmonary Arterial Hypertension		Pulmonary hypertension that results from another disorder (e.g., connective tissue disorder).
C165258	Cellosaurus Disease Terminology	C28397	Asthma	Asthma		A chronic respiratory disease manifested as difficulty breathing due to the narrowing of bronchial passageways.
C165258	Cellosaurus Disease Terminology	C60781	Astrocytoma	Astrocytoma		A tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, and subependymal giant cell astrocytoma.
C165258	Cellosaurus Disease Terminology	C129271	Astrocytoma, IDH-Mutant, Grade 2	Astrocytoma, IDH-Mutant, Grade 2	Astrocytoma, IDH-Mutant, Grade II \|\| Diffuse Astrocytoma, IDH-Mutant	IDH-mutant astrocytoma characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system.
C165258	Cellosaurus Disease Terminology	C2887	Ataxia Telangiectasia Syndrome	Ataxia Telangiectasia Syndrome	Ataxia Telangiectasia \|\| Ataxia-Telangiectasia Syndrome \|\| Louis-Bar Syndrome	Rare hereditary disease characterized by extreme sensitivity to ionizing radiation or radiomimetic drugs because of a defect in DNA repair. AT heterozygosity is estimated to occur in more than 2% of the U.S. population; heterozygotes exhibit increased radiation sensitivity and are at increased risk for several types of cancer. The normal version of the gene that is defective in AT appears to activate the p53-dependent response to DNA damage.
C165258	Cellosaurus Disease Terminology	C155996	Ataxia with Isolated Vitamin E Deficiency	Ataxia with Isolated Vitamin E Deficiency		An autosomal recessive condition caused by mutation(s) in the TTPA gene, encoding alpha-tocopherol transfer protein. It is characterized by spinocerebellar ataxia and extremely low concentrations of vitamin E.
C165258	Cellosaurus Disease Terminology	C173401	Ataxia-Oculomotor Apraxia Type 1	Ataxia-Oculomotor Apraxia Type 1	Ataxia, Early-Onset, with Oculomotor Apraxia and Hypoalbuminemia	An autosomal recessive cerebellar ataxia caused by mutation(s) in the APTX gene, encoding aprataxin. It is characterized by peripheral axonal neuropathy, oculomotor apraxia, and hypoalbuminemia.
C165258	Cellosaurus Disease Terminology	C173403	Ataxia-Oculomotor Apraxia Type 3	Ataxia-Oculomotor Apraxia Type 3		An autosomal recessive cerebellar ataxia caused by mutation(s) in the PIK3R5 gene, encoding phosphoinositide 3-kinase regulatory subunit 5. It is characterized by oculomotor apraxia and distal muscle atrophy and weakness, predominantly affecting the lower limbs.
C165258	Cellosaurus Disease Terminology	C176909	Ataxia-Pancytopenia Syndrome	Ataxia-Pancytopenia Syndrome	ATXPC	An inherited condition caused by autosomal dominant mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. The condition is characterized by cerebellar ataxia, variable hematologic cytopenias, and predisposition to bone marrow failure and myeloid leukemia.
C165258	Cellosaurus Disease Terminology	C132224	Ataxia-Telangiectasia-Like Disorder 1	Ataxia-Telangiectasia-Like Disorder 1	Ataxia-Telangiectasia-Like Disorder	An autosomal recessive condition caused by mutation(s) in the MRE11A gene, encoding double-strand break repair protein MRE11. It is characterized by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia.
C165258	Cellosaurus Disease Terminology	C125693	Atransferrinemia	Atransferrinemia	Congenital Atransferrinemia \|\| Familial Hypotransferrinemia \|\| Hereditary Atransferrinemia	An extremely rare iron overload disorder caused by mutation in the structural gene for transferrin (TF gene). It is characterized by hypochromic microcytic anemia and hemosiderosis.
C165258	Cellosaurus Disease Terminology	C50466	Atrial Fibrillation	Atrial Fibrillation		A disorder characterized by an electrocardiographic finding of a supraventricular arrhythmia characterized by the replacement of consistent P waves by rapid oscillations or fibrillatory waves that vary in size, shape and timing and are accompanied by an irregular ventricular response. (CDISC)
C165258	Cellosaurus Disease Terminology	C101029	Atrioventricular Septal Defect	Atrioventricular Septal Defect	AV Septal Defect \|\| Common AV Canal \|\| Common Atrioventricular Canal \|\| Endocardial Cushion Defect	A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves.
C165258	Cellosaurus Disease Terminology	C97160	Attention Deficit Hyperactivity Disorder	Attention Deficit Hyperactivity Disorder	Attention Deficit-Hyperactivity Disorder	A disorder characterized by a marked pattern of inattention and/or hyperactivity-impulsivity that is inconsistent with developmental level and clearly interferes with functioning in at least two settings (e.g. at home and at school). When present, the symptoms of hyperactivity are most often present before the age of 7 years. There are three recognized presentations or subtypes from most to least common: combined type, inattentive/distractible type, hyperactive/impulsive type.
C165258	Cellosaurus Disease Terminology	C5665	Atypical Adenomatous Lung Hyperplasia	Atypical Adenomatous Lung Hyperplasia	Atypical Adenomatous Hyperplasia of Lung \|\| Atypical Adenomatous Hyperplasia of the Lung \|\| Atypical Alveolar Hyperplasia \|\| Bronchioloalveolar Cell Adenoma	A preinvasive lesion in the lung. It is characterized by the presence of a small, localized proliferation of mildly to moderately atypical type II pneumocytes and/or Clara cells lining alveolar walls and sometimes respiratory bronchioles.
C165258	Cellosaurus Disease Terminology	C3519	Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative	Atypical Chronic Myeloid Leukemia	Atypical CML \|\| Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative \|\| Atypical Chronic Myeloid Leukemia, BCR::ABL1 Negative \|\| Myelodysplastic/Myeloproliferative Neoplasm with Neutrophilia	A myelodysplastic/myeloproliferative neoplasm characterized by the presence of leukocytosis with increased numbers of neutrophils, promyelocytes, myelocytes, and metamyelocytes; blasts less than 20% in bone marrow and peripheral blood; dysgranulopoiesis; minimal or absent monocytosis; absence of eosinophilia; and presence of bone marrow hypercellularity with granulocytic proliferation and granulocytic dysplasia. Dysplasia in the erythroid and megakaryocytic lineages may be present or absent. No evidence of BCR/ABL fusion is present.
C165258	Cellosaurus Disease Terminology	C176902	Atypical Hemolytic Uremic Syndrome-4	Atypical Hemolytic Uremic Syndrome-4		An autosomal dominant subtype of atypical hemolytic uremic syndrome caused by mutation(s) in the CFB gene, encoding complement factor B.
C165258	Cellosaurus Disease Terminology	C6906	Atypical Teratoid/Rhabdoid Tumor	Atypical Teratoid/Rhabdoid Tumor	Atypical Teratoid/Rhabdoid Tumor (WHO Grade 4) \|\| Atypical Teratoid/Rhabdoid Tumor (WHO Grade IV) \|\| CNS Rhabdoid Neoplasm \|\| CNS Rhabdoid Tumor \|\| Central Nervous System Rhabdoid Neoplasm \|\| Central Nervous System Rhabdoid Tumor \|\| Malignant Brain Rhabdoid Neoplasm \|\| Malignant Brain Rhabdoid Tumor \|\| Malignant Rhabdoid Neoplasm of Brain \|\| Malignant Rhabdoid Neoplasm of the Brain \|\| Malignant Rhabdoid Tumor of Brain \|\| Malignant Rhabdoid Tumor of the Brain \|\| Primary Malignant Brain Rhabdoid Neoplasm \|\| Primary Malignant Brain Rhabdoid Tumor \|\| Primary Malignant Rhabdoid Neoplasm of Brain \|\| Primary Malignant Rhabdoid Neoplasm of the Brain \|\| Primary Malignant Rhabdoid Tumor of Brain \|\| Primary Malignant Rhabdoid Tumor of the Brain \|\| Rhabdoid Neoplasm of CNS \|\| Rhabdoid Neoplasm of Central Nervous System \|\| Rhabdoid Neoplasm of the CNS \|\| Rhabdoid Neoplasm of the Central Nervous System \|\| Rhabdoid Tumor of CNS \|\| Rhabdoid Tumor of Central Nervous System \|\| Rhabdoid Tumor of the CNS \|\| Rhabdoid Tumor of the Central Nervous System	An aggressive malignant embryonal neoplasm arising from the central nervous system. It is composed of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. Mutations of the SMARCB1 gene or very rarely SMARCA4 (BRG1) gene are present. The vast majority of cases occur in childhood. Symptoms include lethargy, vomiting, cranial nerve palsy, headache, and hemiplegia.
C165258	Cellosaurus Disease Terminology	C116364	Auditory Neuropathy Spectrum Disorder	Auditory Neuropathy Spectrum Disorder	Auditory Neuropathy	A hearing disorder characterized by impaired transmission of signals through the auditory nerve, resulting in mild to severe hearing loss and poor speech perception.
C165258	Cellosaurus Disease Terminology	C88412	Autism Spectrum Disorder	Autism Spectrum Disorder		A spectrum of developmental disorders that includes autism, Asperger syndrome, and Rett syndrome. Signs and symptoms include poor communication skills, defective social interactions, and repetitive behaviors.
C165258	Cellosaurus Disease Terminology	C34378	Autoimmune Hemolytic Anemia	Autoimmune Hemolytic Anemia		An acquired anemia caused by destruction of the red blood cells by autoantibodies. Causes include autoimmune disorders, lymphoproliferative disorders, and infections.
C165258	Cellosaurus Disease Terminology	C27029	Autoimmune Hepatitis	Autoimmune Hepatitis		Hepatitis caused by autoantibodies. Drugs, infections, and toxins may trigger the production of the autoantibodies against the liver parenchyma.
C165258	Cellosaurus Disease Terminology	C113814	Autoimmune Primary Adrenal Insufficiency	Autoimmune Primary Adrenal Insufficiency	Autoimmune Addison's Disease \|\| Autoimmune Adrenalitis	Diminished production of adrenocortical hormones due to autoimmune destruction of the adrenal glands.
C165258	Cellosaurus Disease Terminology	C202011	Autoimmune Pulmonary Alveolar Proteinosis	Autoimmune Pulmonary Alveolar Proteinosis		A type of pulmonary alveolar proteinosis associated with low concentrations of GM-CSF.
C165258	Cellosaurus Disease Terminology	C174441	Autoinflammation, Panniculitis, and Dermatosis Syndrome	Autoinflammation, Panniculitis, and Dermatosis Syndrome	Otulin-Related Autoinflammatory Syndrome \|\| Otulipenia	An autosomal recessive condition caused by mutation(s) in the OTULIN gene, encoding ubiquitin thioesterase otulin. It is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy.
C165258	Cellosaurus Disease Terminology	C191766	Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A	Autosomal Dominant Childhood-Onset Lower Extremity-Predominant Spinal Muscular Atrophy-2A		An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the BICD2 gene, encoding protein bicaudal D homolog 2.
C165258	Cellosaurus Disease Terminology	C175240	Autosomal Dominant Congenital Deafness with Onychodystrophy	Autosomal Dominant Congenital Deafness with Onychodystrophy	Autosomal Dominant Deafness-onychodystrophy Syndrome \|\| DDOD Syndrome	An autosomal dominant condition caused by mutation(s) in the ATP6V1B2 gene, encoding V-type proton ATPase subunit B, brain isoform. It is characterized by congenital deafness and onychodystrophy.
C165258	Cellosaurus Disease Terminology	C202545	Autosomal Dominant Congenital Myopathy-1A	Autosomal Dominant Congenital Myopathy-1A		An autosomal dominant condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. The phenotype is variable, but generally includes weakness in the proximal muscles of the lower limb and individuals are at increased risk for malignant hyperthermia.
C165258	Cellosaurus Disease Terminology	C141441	Autosomal Dominant Lateral Temporal Lobe Epilepsy	Autosomal Dominant Lateral Temporal Lobe Epilepsy	Epilepsy, Familial Temporal Lobe 1	An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations.
C165258	Cellosaurus Disease Terminology	C191765	Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy-1	Autosomal Dominant Lower Extremity-Predominant Spinal Muscular Atrophy-1		An autosomal dominant type of spinal muscular atrophy caused by mutation(s) in the DYNC1H1 gene, encoding cytoplasmic dynein 1 heavy chain 1.
C165258	Cellosaurus Disease Terminology	C206090	Autosomal Dominant Myosin Storage Congenital Myopathy 7A	Autosomal Dominant Myosin Storage Congenital Myopathy 7A		An autosomal dominant form of congenital myopathy caused by mutation(s) in the MYH7 gene, encoding myosin-7.
C165258	Cellosaurus Disease Terminology	C129736	Autosomal Dominant Neurohypophyseal Diabetes Insipidus	Autosomal Dominant Neurohypophyseal Diabetes Insipidus		An autosomal dominant form of diabetes insipidus caused by mutation(s) in the AVP gene encoding arginine vasopressin.
C165258	Cellosaurus Disease Terminology	C84577	Autosomal Dominant Optic Atrophy	Autosomal Dominant Optic Atrophy		An autosomal dominant hereditary condition characterized by optic atrophy and progressive visual loss.
C165258	Cellosaurus Disease Terminology	C84578	Autosomal Dominant Polycystic Kidney Disease	Autosomal Dominant Polycystic Kidney Disease		Polycystic kidney disease inherited in an autosomal dominant pattern. Symptoms usually appear at middle age and include abdominal pain, hematuria and high blood pressure. Patients may develop brain aneurysms and liver cysts.
C165258	Cellosaurus Disease Terminology	C118786	Autosomal Dominant Popliteal Pterygium Syndrome	Autosomal Dominant Popliteal Pterygium Syndrome		A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.
C165258	Cellosaurus Disease Terminology	C118780	Autosomal Dominant Torsion Dystonia 1	Autosomal Dominant Torsion Dystonia 1	DYT1	An autosomal dominant inherited disorder caused by mutations in the TOR1A gene. It usually begins in childhood or adolescence and is characterized by involuntary muscle contractions in the arms, legs, trunk, and neck.
C165258	Cellosaurus Disease Terminology	C202018	Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy	Autosomal Recessive Cerebral Arteriopathy with Subcortical Infarcts and Leukoencephalopathy		An autosomal recessive condition caused by mutation(s) in the HTRA1 gene, encoding serine protease HTRA1. It is characterized by subcortical infarcts and leukoencephalopathy resulting in progressive motor dysfunction and dementia.
C165258	Cellosaurus Disease Terminology	C132827	Autosomal Recessive Congenital Ichthyosis 2	Autosomal Recessive Congenital Ichthyosis 2	ARCI2	An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.
C165258	Cellosaurus Disease Terminology	C154314	Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I	Autosomal Recessive Cytochrome B-Positive Chronic Granulomatous Disease Type I	Chronic Granulomatous Disease due to Deficiency of NCF-1	An autosomal recessive form of chronic granulomatous disease caused by mutation(s) in the NCF1 gene, encoding neutrophil cytosol factor 1.
C165258	Cellosaurus Disease Terminology	C206095	Autosomal Recessive Distal Hereditary Motor Neuronopathy 8	Autosomal Recessive Distal Hereditary Motor Neuronopathy 8	Sorbitol Dehydrogenase Deficiency with Peripheral Neuropathy	An autosomal recessive condition caused by mutation(s) in the SORD gene, encoding sorbitol dehydrogenase. It is characterized by distal muscle weakness mainly affecting the lower limbs.
C165258	Cellosaurus Disease Terminology	C198574	Autosomal Recessive Distal Renal Tubular Acidosis-4 with Hemolytic Anemia	Autosomal Recessive Distal Renal Tubular Acidosis-4 with Hemolytic Anemia		An autosomal recessive type of distal renal tubular acidosis caused by mutation(s) in the SLC4A1 gene, encoding band 3 anion transport protein. Additionally, it may be characterized by hemolytic anemia.
C165258	Cellosaurus Disease Terminology	C181000	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y	Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures \|\| TOR1AIP1-Related LGMD \|\| TOR1AIP1-Related Limb-Girdle Muscular Dystrophy	An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the TOR1AIP1 gene, encoding torsin-1A-interacting protein 1.
C165258	Cellosaurus Disease Terminology	C180849	Autosomal Recessive Limb-Girdle Muscular Dystrophy-4	Autosomal Recessive Limb-Girdle Muscular Dystrophy-4	Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 \|\| Limb-Girdle Muscular Dystrophy Type 2E	An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the SGCB gene, encoding beta-sarcoglycan.
C165258	Cellosaurus Disease Terminology	C129733	Autosomal Recessive Osteopetrosis	Autosomal Recessive Osteopetrosis		An autosomal recessive form of osteopetrosis caused by mutation(s) in at least 8 genes related to osteoclast function. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it is also associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment. Some cases are also associated with progressive neurological deterioration.
C165258	Cellosaurus Disease Terminology	C167215	Autosomal Recessive Osteopetrosis 1	Autosomal Recessive Osteopetrosis 1	Autosomal Recessive Albers-Schonberg Disease \|\| Autosomal Recessive Marble Bones \|\| Autosomal Recessive Osteopetrosis Type 1 \|\| Infantile Malignant Osteopetrosis 1	A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the TCIRG1 gene on chromosome 11q13, encoding the osteoclast-specific (alpha 3) subunit of the vacuolar proton pump. It is characterized by macrocephaly, frontal bossing, nystagmus, optic atrophy, blindness, deafness, and facial palsy.
C165258	Cellosaurus Disease Terminology	C150556	Autosomal Recessive Osteopetrosis 8	Autosomal Recessive Osteopetrosis 8		A sub-type of autosomal recessive osteopetrosis caused by mutation(s) in the SNX10 gene, encoding sorting nexin-10.
C165258	Cellosaurus Disease Terminology	C84579	Autosomal Recessive Polycystic Kidney Disease	Autosomal Recessive Polycystic Kidney Disease	Autosomal Recessive Polycystic Kidney	Polycystic kidney disease inherited in an autosomal recessive pattern. Patients present with progressive renal failure early in life. The autosomal recessive trait is associated with abnormalities of chromosome 6.
C165258	Cellosaurus Disease Terminology	C154614	Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay	Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay	Spastic Ataxia 6	An autosomal recessive condition caused by mutation(s) in the SACS gene, encoding sacsin. It is characterized by early onset cerebellar ataxia, pyramidal tract signs and peripheral neuropathy.
C165258	Cellosaurus Disease Terminology	C177252	Autosomal Recessive Spastic Ataxia-2	Autosomal Recessive Spastic Ataxia-2	Autosomal Spastic Paraplegia Type 58	An autosomal recessive condition caused by mutation(s) in the KIF1C gene, encoding kinesin-like protein KIF1C. It is characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs.
C165258	Cellosaurus Disease Terminology	C123415	Autosomal Recessive Torsion Dystonia 2	Autosomal Recessive Torsion Dystonia 2	DYT2 \|\| Dystonia Musculorum Deformans 2	An autosomal recessive inherited disorder caused by mutation in the HPCA gene. It begins in childhood or adolescence and is characterized by involuntary, sustained muscle contractions and torsions affecting initially distal limbs and later the neck, orofacial, and craniocervical regions.
C165258	Cellosaurus Disease Terminology	C35447	Avascular Necrosis of Femoral Head	Avascular Necrosis of Femoral Head	Osteonecrosis of the Femoral Head	Necrotic changes in the bone tissue of the femoral head due to interruption of blood supply.
C165258	Cellosaurus Disease Terminology	C80076	Azoospermia	Azoospermia	Aspermia	Complete absence of spermatozoa in the semen.
C165258	Cellosaurus Disease Terminology	C8644	B Acute Lymphoblastic Leukemia	B Acute Lymphoblastic Leukemia	B Cell Precursor Type Acute Leukemia \|\| B-Acute Lymphoblastic Leukemia \|\| B-Cell ALL \|\| B-Cell Acute Lymphoblastic Leukemia \|\| B-Cell Lymphoblastic Leukemia \|\| B-Cell Precursor Type Acute Leukemia \|\| B-Cell Type Acute Leukemia \|\| Precursor B-Cell Lymphoblastic Leukemia \|\| Precursor B-Lymphoblastic Leukemia	The most frequent type of acute lymphoblastic leukemia. Approximately 75% of cases occur in children under six years of age. This is a good prognosis leukemia. In the pediatric age group the complete remission rate is approximately 95% and the disease free survival rate is 70%. Approximately 80% of children appear to be cured. In the adult age group the complete remission rate is 60-85%. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C80347	B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1	B Acute Lymphoblastic Leukemia with TCF3-PBX1 Fusion \|\| B Acute Lymphoblastic Leukemia with TCF3::PBX1 Fusion \|\| B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) \|\| B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3::PBX1 \|\| B-ALL with t(1;19)(q23;p13.3); TCF3-PBX1 \|\| B-ALL with t(1;19)(q23;p13.3); TCF3::PBX1 \|\| B-Acute Lymphoblastic Leukemia with TCF3-PBX1 Fusion \|\| B-Acute Lymphoblastic Leukemia with TCF3::PBX1 Fusion \|\| B-Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1) \|\| B-Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); TCF3-PBX1 \|\| B-Cell Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)	A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. It occurs in children and less often in adults.
C165258	Cellosaurus Disease Terminology	C36312	B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Acute Lymphoblastic Leukemia, Philadelphia Chromosome Positive \|\| B Acute Lymphoblastic Leukemia with BCR-ABL1 Fusion \|\| B Acute Lymphoblastic Leukemia with BCR::ABL1 Fusion \|\| B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 \|\| B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 \|\| B-Acute Lymphoblastic Leukemia with BCR-ABL1 Fusion \|\| B-Acute Lymphoblastic Leukemia with BCR::ABL1 Fusion \|\| B-Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 \|\| B-Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 \|\| B-Cell Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 \|\| Philadelphia Positive Acute Lymphoblastic Leukemia \|\| Philadelphia Positive Precursor Lymphoblastic Leukemia	A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.
C165258	Cellosaurus Disease Terminology	C80342	B Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged	B Acute Lymphoblastic Leukemia with t(v;11q23.3); KMT2A Rearranged	B Acute Lymphoblastic Leukemia with KMT2A Rearrangement \|\| B Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged \|\| B-ALL with t(v;11q23.3)/KMT2A Rearranged \|\| B-ALL with t(v;11q23.3); KMT2A Rearranged \|\| B-Acute Lymphoblastic Leukemia with KMT2A Rearrangement \|\| B-Acute Lymphoblastic Leukemia with t(v;11q23.3); KMT2A Rearranged \|\| B-Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged \|\| B-Cell Acute Lymphoblastic Leukemia with t(v;11q23.3); MLL Rearranged	A B-cell acute leukemia characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of an KMT2A related fusion protein. It is the most commonly seen leukemia in the pediatric population under the age of one year. The prognosis is unfavorable.
C165258	Cellosaurus Disease Terminology	C80334	B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1	B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1	B Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1 Fusion \|\| B Lymphoblastic Leukemia/Lymphoma with ETV6::RUNX1 Fusion \|\| B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13.2;q22.1); ETV6::RUNX1 \|\| B Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1) \|\| B-Lymphoblastic Leukemia/Lymphoma with ETV6-RUNX1 Fusion \|\| B-Lymphoblastic Leukemia/Lymphoma with ETV6::RUNX1 Fusion \|\| B-Lymphoblastic Leukemia/Lymphoma with t(12;21)(p13;q22); TEL-AML1 (ETV6-RUNX1)	A precursor lymphoid neoplasm which is composed of B lymphoblasts and carries a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. It has a favorable clinical outcome.
C165258	Cellosaurus Disease Terminology	C134766	Baboon Lymphoma	Baboon Lymphoma		Lymphoma that occurs in a baboon.
C165258	Cellosaurus Disease Terminology	C3939	Bannayan Syndrome	Bannayan-Riley-Ruvalcaba Syndrome	Bannayan Syndrome \|\| Bannayan-Zonana Syndrome \|\| Macrocephaly with Multiple Lipomas and Hemangiomas	A genetic syndrome caused by mutations in the PTEN gene. It is characterized by macrocephaly and the presence of hamartomas.
C165258	Cellosaurus Disease Terminology	C118632	Bardet-Biedl Syndrome	Bardet-Biedl Syndrome		An autosomal recessive inherited syndrome caused by mutations in at least fourteen different genes, called BBS genes. It is characterized by loss of vision, obesity, diabetes, hypertension, hypercholesterolemia, polydactyly, intellectual disability, genital organs abnormalities, and delayed development of motor skills.
C165258	Cellosaurus Disease Terminology	C171267	Bare Lymphocyte Syndrome Type 1	Bare Lymphocyte Syndrome Type 1	Immunodeficiency by Defective Expression of MHC Class I	A group of conditions characterized by lack of expression of major histocompatibility complex (MHC) class I proteins.
C165258	Cellosaurus Disease Terminology	C171268	Bare Lymphocyte Syndrome Type 2	Bare Lymphocyte Syndrome Type 2	Immunodeficiency by Defective Expression of MHC Class II	A group of conditions characterized by lack of expression of major histocompatibility complex (MHC) class II proteins.
C165258	Cellosaurus Disease Terminology	C7027	Barrett Adenocarcinoma	Barrett Adenocarcinoma	Adenocarcinoma Arising in Barrett's Mucosa \|\| Barrett's Adenocarcinoma	An adenocarcinoma arising from Barrett metaplastic epithelium in the esophagus. There is evidence supporting the idea that the Barrett adenocarcinomas develop through a stepwise progression through intestinal metaplastic epithelium to epithelial dysplasia to malignancy. Adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. In terms of grading, they are well or moderately differentiated adenocarcinomas.
C165258	Cellosaurus Disease Terminology	C2891	Barrett Esophagus	Barrett Esophagus	Barrett's Esophagus \|\| Columnar Epithelial-Lined Lower Esophagus \|\| Columnar-Lined Esophagus	Esophageal lesion lined with columnar metaplastic epithelium which is flat or villiform. Barrett epithelium is characterized by two different types of cells: goblet cells and columnar cells. The symptomatology of Barrett esophagus is that of gastro-esophageal reflux. It is the precursor of most esophageal adenocarcinomas. (WHO)
C165258	Cellosaurus Disease Terminology	C84585	Barth Syndrome	Barth Syndrome	3-Methylglutaconic Aciduria Type 2	A rare X-linked syndrome caused by mutations in TAZ1 gene. Signs and symptoms include cardiomyopathy, neutropenia, muscle weakness and atrophy, growth delay, cardiolipin deficiency and 3-methylglutaconic aciduria.
C165258	Cellosaurus Disease Terminology	C168990	Bartsocas-Papas Syndrome	Bartsocas-Papas Syndrome	Autosomal Recessive Popliteal Pterygium Syndrome	An autosomal recessive condition caused by mutation(s) in the RIPK4 gene, encoding receptor-interacting serine/threonine-protein kinase 4. It is characterized by popliteal pterygia, ankyloblepharon, cleft lip/palate, and syndactyly. Early lethality is common.
C165258	Cellosaurus Disease Terminology	C178412	Bartter Syndrome, Type 1	Bartter Syndrome, Type 1	Hyperprostaglandin E Syndrome 1 \|\| Hypokalemic Alkalosis with Hypercalciuria 1, Antenatal \|\| Type 1 Bartter Syndrome	An autosomal recessive subtype of Bartter syndrome caused by mutation(s) in the SLC12A1 gene, encoding solute carrier family 12 member 1.The onset occurs in the antenatal period, and may be characterized by polyhydramnios, premature birth, failure to thrive and mental retardation. Clinical variability in the severity of symptoms exists and an essential feature of antenatal forms of Bartter syndrome is marked hypercalciuria.
C165258	Cellosaurus Disease Terminology	C134955	Bat Skin Tumor	Bat Skin Tumor		A skin tumor that occurs in a bat.
C165258	Cellosaurus Disease Terminology	C27907	B-Cell Neoplasm	B-Cell Neoplasm		A lymphoproliferative disorder composed of neoplastic B-cells. It includes B-cell non-Hodgkin lymphomas, B-cell leukemias, plasma cell neoplasms, and B-cell proliferations of uncertain malignant potential.
C165258	Cellosaurus Disease Terminology	C3457	B-Cell Non-Hodgkin Lymphoma	B-Cell Non-Hodgkin Lymphoma	B-Cell Non Hodgkin's Lymphoma \|\| B-Cell Non-Hodgkin's Lymphoma \|\| Lymphomas Non-Hodgkin's B-Cell \|\| Non-Hodgkin's B-Cell Lymphoma \|\| Non-Hodgkin's Lymphoma B-Cell	The most common type of non-Hodgkin lymphoma. It includes the most frequently seen morphologic variants which are: diffuse large B-cell lymphoma, follicular lymphoma, small lymphocytic lymphoma and marginal zone B-cell lymphoma.
C165258	Cellosaurus Disease Terminology	C4753	B-Cell Prolymphocytic Leukemia	B-Cell Prolymphocytic Leukemia	B Prolymphocytic Leukemia	A malignant B-cell lymphoproliferative process affecting the blood, bone marrow, and spleen. The B-prolymphocytes are medium-sized, round lymphoid cells with prominent nucleoli. The B-prolymphocytes must exceed 55% of lymphoid cells in the blood. Cases of transformed chronic lymphocytic leukemia (CLL) and CLL with increased prolymphocytes are excluded. The prognosis is poor. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C123813	Beare-Stevenson Cutis Gyrata Syndrome	Beare-Stevenson Cutis Gyrata Syndrome		A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and a skin abnormality called cutis gyrata. The craniosynostosis results in a cloverleaf-shaped skull, wide-set eyes, ear abnormalities, underdeveloped upper jaw, and developmental delays. Cutis gyrata is characterized by a wrinkled skin appearance, especially on the face, near the ears, and on the palms and soles.
C165258	Cellosaurus Disease Terminology	C84587	Becker's Muscular Dystrophy	Becker's Muscular Dystrophy		An X-linked inherited disorder characterized by slowly progressing weakness in the muscles of the legs and pelvis.
C165258	Cellosaurus Disease Terminology	C34415	Beckwith-Wiedemann Syndrome	Beckwith-Wiedemann Syndrome		A genetic syndrome caused by abnormalities in chromosome 11. It is characterized by large birth weight, macroglossia, umbilical hernia, ear abnormalities, and hypoglycemia. Patients with this syndrome have an increased risk of developing embryonal tumors (gonadoblastoma, hepatoblastoma, Wilms tumor, rhabdomyosarcoma) and adrenal cortex carcinomas.
C165258	Cellosaurus Disease Terminology	C34416	Behcet Syndrome	Behcet Syndrome	Behcet's Syndrome \|\| Beh�et Syndrome	A rare chronic inflammatory disorder of unknown etiology. It is characterized by the development of ulcers in the mouth and genital region and uveitis. Other signs and symptoms include arthritis, deep vein thrombosis and superficial thrombophlebitis.
C165258	Cellosaurus Disease Terminology	C177251	Behr Syndrome	Behr Syndrome		An autosomal recessive condition caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial. It is characterized by optic atrophy and neurological features, which may include ophthalmoparesis, nystagmus, spastic paraparesis, ataxia, peripheral neuropathy and learning difficulties.
C165258	Cellosaurus Disease Terminology	C183308	Benign Familial Infantile Seizures	Benign Familial Infantile Seizures	Benign Familial Infantile Convulsions \|\| Benign Familial Infantile Epilepsy	A genetically heterogenous afebrile seizure disorder of infancy, typically occurring between the third and eight month of life, that is characterized by brief partial seizures occurring in clusters over a day or several days. Psychomotor and neurologic development before and after seizures are normal.
C165258	Cellosaurus Disease Terminology	C3739	Benign Fibrous Histiocytoma	Fibrous Histiocytoma	Benign Fibrous Histiocytoma	A benign neoplasm composed of fibroblastic spindle cells in a whorled storiform pattern. It is characterized by the presence of foam cells, inflammatory cells, hemosiderin deposition and stromal hemorrhage.
C165258	Cellosaurus Disease Terminology	C3630	Benign Parathyroid Gland Neoplasm	Benign Parathyroid Gland Neoplasm	Benign Neoplasm of Parathyroid \|\| Benign Neoplasm of Parathyroid Gland \|\| Benign Neoplasm of the Parathyroid \|\| Benign Neoplasm of the Parathyroid Gland \|\| Benign Parathyroid Gland Tumor \|\| Benign Parathyroid Neoplasm \|\| Benign Parathyroid Tumor \|\| Benign Tumor of Parathyroid \|\| Benign Tumor of Parathyroid Gland \|\| Benign Tumor of the Parathyroid \|\| Benign Tumor of the Parathyroid Gland \|\| Parathyroid Tumor Benign	A neoplasm that arises from the parathyroid glands and is characterized by the absence of atypical or malignant cytological and architectural features, and absence of invasive features or metastatic potential.
C165258	Cellosaurus Disease Terminology	C2897	Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	Benign Hyperplasia of Prostate \|\| Benign Hyperplasia of the Prostate \|\| Benign Prostate Hyperplasia \|\| Benign Prostatic Hyperplasia - BPH \|\| Benign Prostatic Hypertrophy \|\| Prostate Adenoma	A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.
C165258	Cellosaurus Disease Terminology	C3829	Benign Synovial Neoplasm	Benign Synovial Neoplasm	Benign Neoplasm of Synovium \|\| Benign Neoplasm of the Synovium \|\| Benign Synovial Tumor \|\| Benign Synovioma \|\| Benign Tumor of Synovium \|\| Benign Tumor of the Synovium	A benign neoplasm arising from the synovial membrane. Examples include the diffuse giant cell tumor of tendon sheath and localized giant cell tumor of tendon sheath.
C165258	Cellosaurus Disease Terminology	C84595	Bernard-Soulier Syndrome	Bernard-Soulier Syndrome		A rare, autosomal recessive bleeding disorder characterized by deficiency or absence of the Ib/IX/V complex on the surface of platelets. It results in thrombocytopenia, prolonged bleeding time and the presence of giant platelets.
C165258	Cellosaurus Disease Terminology	C34375	Beta Thalassemia	Beta Thalassemia		An autosomal recessive disorder that affects the production of beta polypeptide chains which are necessary for the hemoglobin synthesis. Anemia and failure to thrive are characteristic features.
C165258	Cellosaurus Disease Terminology	C84596	Beta-Mannosidosis	Beta-Mannosidosis		An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.
C165258	Cellosaurus Disease Terminology	C126688	Bethlem Myopathy 1	Bethlem Myopathy 1	BTHLM1	A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles.
C165258	Cellosaurus Disease Terminology	C128803	Bicuspid Aortic Valve	Bicuspid Aortic Valve	Bicommissural Aortic Valve	A genetically heterogenous congenital anomaly in which the aortic valve has two leaflets. It affects 1-2 percent of the population. It is a clinically heterogeneous condition, with a high incidence of aortic valve and ascending aortic complications requiring surgery.
C165258	Cellosaurus Disease Terminology	C179299	Bietti Crystalline Corneoretinal Dystrophy	Bietti Crystalline Corneoretinal Dystrophy		An autosomal recessive condition caused by mutation (s) in the CYP4V2 gene, encoding cytochrome P450 4V2. It is characterized by multiple glistening intraretinal crystalline deposits scattered throughout the posterior pole associated with progressive atrophy of the retinal pigment epithelium and choroidal sclerosis. The crystalline deposits are also present in the corneal limbus in some individuals.
C165258	Cellosaurus Disease Terminology	C148367	Bilateral Frontoparietal Polymicrogyria	Bilateral Frontoparietal Polymicrogyria		An autosomal recessive condition caused by mutation(s) in the ADGRG1 gene, encoding adhesion G-protein coupled receptor G1. It is characterized by motor and cognitive developmental delay, pyramidal signs, and seizures.
C165258	Cellosaurus Disease Terminology	C101268	Bilateral Optic Nerve Hypoplasia	Bilateral Optic Nerve Hypoplasia		A congenital abnormality characterized by the underdevelopment of both optic nerves.
C165258	Cellosaurus Disease Terminology	C8713	Bilateral Retinoblastoma	Bilateral Retinoblastoma		Retinoblastoma involving both eyes. This occurs in the majority of patients with the inherited variant. A minority of patient with bilateral retinoblastoma were found to have involvement of the pineal gland as well.
C165258	Cellosaurus Disease Terminology	C27813	Bile Duct Adenocarcinoma	Bile Duct Adenocarcinoma		An adenocarcinoma arising from the intrahepatic or extrahepatic bile ducts.
C165258	Cellosaurus Disease Terminology	C34421	Biliary Atresia	Biliary Atresia	Congenital Biliary Atresia	A congenital disorder characterized by blockage or absence of the intrahepatic or extrahepatic bile ducts.
C165258	Cellosaurus Disease Terminology	C84598	Biotinidase Deficiency	Biotinidase Deficiency		A genetic disorder caused by mutations in the BTD gene. It is characterized by reduced or absent activity of the enzyme biotinidase which is responsible for the recycling of the vitamin biotin. Signs and symptoms appear in childhood and include seizures, hypotonia and developmental delays. If left untreated, it leads to vision and hearing loss, infections, alopecia and ataxia.
C165258	Cellosaurus Disease Terminology	C4279	Biphasic Synovial Sarcoma	Biphasic Synovial Sarcoma	Biphasic Sarcoma of Synovium \|\| Biphasic Sarcoma of the Synovium	A synovial sarcoma characterized by the presence of both an epithelial and a spindle cell component.
C165258	Cellosaurus Disease Terminology	C34423	Bipolar Disorder	Bipolar Disorder	Manic Depressive Disorder \|\| Manic-Depression	A disorder of the brain that causes unusual shifts in mood, energy, activity levels and the ability to carry out day-to-day tasks. Often these moods range and shift from periods of elation and energized behavior to those of hopelessness and depression.
C165258	Cellosaurus Disease Terminology	C28244	Birt-Hogg-Dube Syndrome	Birt-Hogg-Dube Syndrome		A rare genetic syndrome with an autosomal dominant pattern of inheritance. It is caused by a mutation in the FLCN gene which encodes the protein folliculin. Clinical signs include multiple benign growths of the skin and lungs that begin to manifest in the second or third decade of life. The clinical course is characterized by the progressive growth of new and existing neoplasms. In those with mutations in both copies of FLCN, the kidneys may also be affected by the growth of benign or malignant neoplasms.
C165258	Cellosaurus Disease Terminology	C4912	Bladder Carcinoma	Bladder Carcinoma	Bladder Cancer \|\| Cancer of Bladder \|\| Cancer of Urinary Bladder \|\| Cancer of the Bladder \|\| Cancer of the Urinary Bladder \|\| Carcinoma of Bladder \|\| Carcinoma of Urinary Bladder \|\| Carcinoma of the Bladder \|\| Carcinoma of the Urinary Bladder \|\| Urinary Bladder Cancer \|\| Urinary Bladder Carcinoma	A carcinoma arising from the bladder epithelium. Approximately 90% of the bladder carcinomas are transitional cell carcinomas. The remainder are squamous cell carcinomas, adenocarcinomas and small cell neuroendocrine carcinomas.
C165258	Cellosaurus Disease Terminology	C4031	Bladder Squamous Cell Carcinoma	Bladder Squamous Cell Carcinoma	Bladder Epidermoid Carcinoma \|\| Epidermoid Carcinoma of Bladder \|\| Epidermoid Carcinoma of Urinary Bladder \|\| Epidermoid Carcinoma of the Bladder \|\| Epidermoid Carcinoma of the Urinary Bladder \|\| Squamous Cell Carcinoma of Bladder \|\| Squamous Cell Carcinoma of Urinary Bladder \|\| Squamous Cell Carcinoma of the Bladder \|\| Squamous Cell Carcinoma of the Urinary Bladder \|\| Urinary Bladder Epidermoid Carcinoma \|\| Urinary Bladder Squamous Cell Carcinoma	A squamous cell carcinoma of the bladder arising from metaplastic epithelium. It represents less than 10% of bladder carcinomas. The exception is the Middle East along the Nile Valley, where it represents the most common form of carcinoma because of the endemic nature of schistosomiasis. Bladder squamous cell carcinoma is often associated with long-standing chronic inflammation of the bladder and usually has a poor prognosis. The diagnosis of squamous cell carcinoma of the bladder should be reserved for those tumors that are predominantly keratin forming.
C165258	Cellosaurus Disease Terminology	C39851	Bladder Urothelial Carcinoma	Bladder Urothelial Carcinoma	Bladder Transitional Cell Carcinoma \|\| Transitional Cell Carcinoma of the Urinary Bladder \|\| Urinary Bladder Transitional Cell Carcinoma \|\| Urinary Bladder Urothelial Carcinoma \|\| Urothelial Carcinoma of the Urinary Bladder	A carcinoma that arises from the urothelial lining of the bladder. It is the most common morphologic type of urinary bladder carcinoma. It usually affects males in their sixth and seventh decades of life. Hematuria is the most common symptom at presentation. Pathologic stage is the strongest predictor of survival.
C165258	Cellosaurus Disease Terminology	C9110	Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Blast Phase Chronic Myeloid Leukemia, BCR-ABL1 Positive	Blast Phase CML \|\| Blast Phase Chronic Granulocytic Leukemia \|\| Blast Phase Chronic Myelocytic Leukemia \|\| Blast Phase Chronic Myelogenous Leukemia \|\| Blast Phase Chronic Myelogenous Leukemia, BCR-ABL1 Positive \|\| Blast Phase Chronic Myelogenous Leukemia, BCR::ABL1 Positive \|\| Blast Phase Chronic Myeloid Leukemia \|\| Blast Phase Chronic Myeloid Leukemia, BCR::ABL1 Positive \|\| Blastic Phase CML \|\| Blastic Phase Chronic Granulocytic Leukemia \|\| Blastic Phase Chronic Myelocytic Leukemia \|\| Blastic Phase Chronic Myelogenous Leukemia \|\| Blastic Phase Chronic Myeloid Leukemia	An advanced phase of chronic myeloid leukemia. It is characterized by: 1. the presence of blasts in the peripheral blood or bone marrow that are at least 20% of the peripheral blood white cells or of the nucleated cells in the bone marrow respectively, or 2. an extramedullary proliferation of blasts, and/or 3. when there are large aggregates and clusters of blasts in the bone marrow biopsy specimen (adapted from WHO, 2001).
C165258	Cellosaurus Disease Terminology	C7203	Blastic Plasmacytoid Dendritic Cell Neoplasm	Blastic Plasmacytoid Dendritic Cell Neoplasm	Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor \|\| CD4+/CD56+ Hematodermic Neoplasm	A clinically aggressive neoplasm derived from the precursors of plasmacytoid dendritic cells (also called professional type I interferon-producing cells or plasmacytoid monocytes), with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. (WHO 2017)
C165258	Cellosaurus Disease Terminology	C116794	Blau Syndrome	Blau Syndrome	Pediatric Granulomatous Arthritis	An autoinflammatory disease caused by a NOD2 gene mutation, usually presenting in children younger than age four, and characterized by granulomatous dermatitis, arthritis with synovitis, and uveitis.
C165258	Cellosaurus Disease Terminology	C142084	Bleeding Disorder, Platelet-Type 17	Bleeding Disorder, Platelet-Type 17		An autosomal dominant condition caused by mutation(s) in the GFI1B gene, encoding zinc finger protein Gfi-1b. It is characterized by a tendency for increased bleeding due to abnormal platelet function.
C165258	Cellosaurus Disease Terminology	C2903	Bloom Syndrome	Bloom Syndrome	Congenital Telangiectatic Erythema Syndrome	Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80)
C165258	Cellosaurus Disease Terminology	C6604	Bone Fibrosarcoma	Bone Fibrosarcoma	Fibrosarcoma of Bone \|\| Fibrosarcoma of the Bone	A usually aggressive malignant neoplasm arising from the bone. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
C165258	Cellosaurus Disease Terminology	C7154	Bone Leiomyosarcoma	Bone Leiomyosarcoma	Leiomyosarcoma of Bone	A rare aggressive malignant smooth muscle neoplasm, arising from the bone. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C9312	Bone Sarcoma	Bone Sarcoma	Osseous Sarcoma \|\| Sarcoma of Bone \|\| Sarcoma of the Bone \|\| Skeletal Sarcoma	A sarcoma that arises from the bone. Representative examples are osteosarcoma and chondrosarcoma.
C165258	Cellosaurus Disease Terminology	C5226	Borderline Ovarian Serous Tumor	Borderline Ovarian Serous Tumor	Borderline Ovarian Serous Neoplasm \|\| Borderline Serous Neoplasm of Ovary \|\| Borderline Serous Neoplasm of the Ovary \|\| Borderline Serous Tumor of Ovary \|\| Borderline Serous Tumor of the Ovary \|\| Ovarian Serous Neoplasm of Low Malignant Potential \|\| Ovarian Serous Tumor of Low Malignant Potential \|\| Proliferating Ovarian Serous Neoplasm \|\| Proliferating Ovarian Serous Tumor \|\| Proliferating Serous Neoplasm of Ovary \|\| Proliferating Serous Neoplasm of the Ovary \|\| Proliferating Serous Tumor of Ovary \|\| Proliferating Serous Tumor of the Ovary \|\| Serous Neoplasm of Ovary with Low Malignant Potential \|\| Serous Neoplasm of the Ovary with Low Malignant Potential \|\| Serous Ovarian Neoplasm of Low Malignant Potential \|\| Serous Ovarian Tumor of Low Malignant Potential \|\| Serous Tumor of Ovary with Low Malignant Potential \|\| Serous Tumor of the Ovary with Low Malignant Potential	A low grade serous epithelial neoplasm arising from the ovary. It is characterized by an atypical proliferation of serous-type epithelial cells without evidence of stromal invasion. It is often asymptomatic but rarely it may present with abdominal pain or abdominal enlargement due to rupture or torsion.
C165258	Cellosaurus Disease Terminology	C131470	Bovine Congenital Erythropoietic Porphyria	Bovine Congenital Erythropoietic Porphyria		A congenital metabolic disorder characterized by a deficiency in the enzyme uroporphyrinogen III synthase, which occurs in cattle.
C165258	Cellosaurus Disease Terminology	C131469	Bovine Leukemia	Bovine Leukemia		A malignant (clonal) hematologic disorder, involving hematopoietic stem cells and characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood which occurs in cattle
C165258	Cellosaurus Disease Terminology	C134767	Bovine Lymphosarcoma	Bovine Lymphosarcoma		Lymphosarcoma that occurs in a cow.
C165258	Cellosaurus Disease Terminology	C131472	Bovine Protoporphyria	Bovine Protoporphyria		A congenital metabolic disorder characterized by a deficiency in the enzyme ferrochelatase, which occurs in cattle.
C165258	Cellosaurus Disease Terminology	C134768	Bovine Rectal Myxoma	Bovine Rectal Myxoma		A myxoma that occurs in the rectum of a cow.
C165258	Cellosaurus Disease Terminology	C133085	Brachial Amyotrophic Diplegia	Brachial Amyotrophic Diplegia	Flail Arm Syndrome \|\| Man-in-barrel Syndrome	A neurodegenerative condition characterized by asymmetric weakness in the upper extremities resulting from segmental lower motor neuron dysfunction.
C165258	Cellosaurus Disease Terminology	C2907	Brain Neoplasm	Brain Neoplasm	Brain Neoplasms \|\| Brain Tumor \|\| Neoplasm of Brain \|\| Neoplasm of the Brain \|\| Tumor of Brain \|\| Tumor of the Brain	A benign or malignant neoplasm that arises from or metastasizes to the brain.
C165258	Cellosaurus Disease Terminology	C36100	BRCA1 Syndrome	BRCA1-Associated Hereditary Breast and Ovarian Cancer Syndrome	BRCA1 Syndrome \|\| Early Onset Breast Ovarian Cancer Syndrome	An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA1 gene. Patients are at high risk of developing breast cancer, ovarian cancer, and other cancers including cervical, endometrial, fallopian tube, and colon cancer.
C165258	Cellosaurus Disease Terminology	C36101	BRCA2 Syndrome	BRCA2-Associated Hereditary Breast and Ovarian Cancer Syndrome	BRCA2 Syndrome \|\| Site Specific Early Onset Breast Cancer Syndrome	An autosomal dominant inherited syndrome caused by deleterious mutations in the BRCA2 gene. Patients are at high risk of developing female and male breast cancer, ovarian cancer, and other cancers including prostatic cancer, pancreatic cancer, gastric cancer, and melanoma.
C165258	Cellosaurus Disease Terminology	C5214	Breast Adenocarcinoma	Breast Adenocarcinoma	Adenocarcinoma of Breast \|\| Adenocarcinoma of the Breast \|\| Mammary adenocarcinoma	The most common histologic type of breast carcinoma. Representative examples include invasive ductal carcinoma not otherwise specified, ductal carcinoma in situ, inflammatory carcinoma, secretory carcinoma, signet ring cell carcinoma, tubular carcinoma, invasive lobular carcinoma, and lobular carcinoma in situ.
C165258	Cellosaurus Disease Terminology	C4872	Breast Carcinoma	Breast Carcinoma	Breast Cancer \|\| Cancer of Breast \|\| Cancer of the Breast \|\| Carcinoma of Breast \|\| Carcinoma of the Breast \|\| Mammary Carcinoma	A carcinoma arising from the breast, most commonly the terminal ductal-lobular unit. It is the most common malignant tumor in females. Risk factors include country of birth, family history, menstrual and reproductive history, fibrocystic disease and epithelial hyperplasia, exogenous estrogens, contraceptive agents, and ionizing radiation. The vast majority of breast carcinomas are adenocarcinomas (ductal or lobular). Breast carcinoma spreads by direct invasion, by the lymphatic route, and by the blood vessel route. The most common site of lymph node involvement is the axilla.
C165258	Cellosaurus Disease Terminology	C4017	Breast Ductal Carcinoma	Breast Ductal Carcinoma	Duct Adenocarcinoma \|\| Duct Carcinoma \|\| Ductal Adenocarcinoma \|\| Ductal Breast Carcinoma \|\| Ductal Carcinoma \|\| Ductal Carcinoma of Breast \|\| Ductal Carcinoma of the Breast	A breast carcinoma arising from the ducts. While ductal carcinomas can arise at other sites, this term is universally used to refer to carcinomas of the breast. Ductal carcinomas account for about two thirds of all breast cancers. Two types of ductal carcinomas have been described: ductal carcinoma in situ (DCIS) and invasive breast carcinoma of no special type. The latter often spreads to the axillary lymph nodes and other anatomic sites. The two forms of ductal carcinoma often coexist.
C165258	Cellosaurus Disease Terminology	C4001	Breast Inflammatory Carcinoma	Breast Inflammatory Carcinoma	Inflammatory Breast Cancer \|\| Inflammatory Breast Carcinoma \|\| Inflammatory Carcinoma of Breast \|\| Inflammatory Carcinoma of the Breast \|\| Mastitis Carcinomatosa	An advanced, invasive breast adenocarcinoma characterized by the presence of distinct changes in the overlying skin. These changes include diffuse erythema, edema, peau d'orange (skin of an orange) appearance, tenderness, induration, warmth, enlargement, and in some cases a palpable mass. The skin changes are the consequence of lymphatic obstruction from the underlying invasive breast adenocarcinoma. Microscopically, the dermal lymphatics show prominent infiltration by malignant cells. The invasive breast adenocarcinoma is usually of ductal, NOS type. There is not significant inflammatory cell infiltrate present, despite the name of this carcinoma.
C165258	Cellosaurus Disease Terminology	C40395	Breast Malignant Myoepithelioma	Breast Malignant Myoepithelioma	Breast Myoepithelial Carcinoma \|\| Malignant Breast Myoepithelioma	An invasive malignant tumor that arises from the breast. It is characterized by the presence of spindle-shaped myoepithelial cells. Mitoses are present. Rarely, local recurrences and distant metastases have been reported.
C165258	Cellosaurus Disease Terminology	C9119	Breast Medullary Carcinoma	Breast Medullary Carcinoma	Infiltrating Medullary Carcinoma of Breast \|\| Infiltrating Medullary Carcinoma of the Breast \|\| Invasive Medullary Breast Carcinoma \|\| Invasive Medullary Carcinoma of Breast \|\| Invasive Medullary Carcinoma of the Breast \|\| Medullary Breast Carcinoma \|\| Medullary Breast Carcinoma with Lymphoid Stroma \|\| Medullary Carcinoma of Breast \|\| Medullary Carcinoma of the Breast	An infiltrating breast carcinoma with a relatively favorable prognosis. It is an uncommon carcinoma, accounting for less than 1% of all infiltrating breast carcinomas. It is well circumscribed, with soft cut surface and often of considerable size. Microscopically, the predominant growth pattern is syncytial with broad anastomosing bands or sheets of malignant cells. The malignant cells are round with abundant cytoplasm and vesicular nuclei. The sheets of malignant cells are associated with a marked lymphoplasmacytic infiltrate. Glandular or tubular structures are absent.
C165258	Cellosaurus Disease Terminology	C5164	Breast Metaplastic Carcinoma	Breast Metaplastic Carcinoma	Metaplastic Breast Carcinoma \|\| Metaplastic Carcinoma of Breast \|\| Metaplastic Carcinoma of the Breast	A group of invasive breast carcinomas characterized by the presence of an adenocarcinomatous component which is admixed with a dominant component that is composed of squamous cells, spindle cells, or mesenchymal cells.
C165258	Cellosaurus Disease Terminology	C5169	Breast Neuroendocrine Neoplasm	Breast Neuroendocrine Neoplasm	Breast Endocrine Neoplasm \|\| Neuroendocrine Neoplasm of Breast \|\| Neuroendocrine Neoplasm of the Breast	A neoplasm that arises from the breast and is composed of cells exhibiting neuroendocrine differentiation. It is classified as neuroendocrine carcinoma or neuroendocrine tumor G1 and neuroendocrine tumor G2. Most cases are neuroendocrine carcinomas. Primary neuroendocrine tumors in the breast are very rare.
C165258	Cellosaurus Disease Terminology	C5161	Breast Pleomorphic Carcinoma	Breast Pleomorphic Carcinoma	Anaplastic Breast Carcinoma \|\| Pleomorphic Breast Carcinoma	A rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate.
C165258	Cellosaurus Disease Terminology	C7362	Breast Scirrhous Carcinoma	Breast Scirrhous Carcinoma	Infiltrating Carcinoma of Breast with Fibrotic Stroma \|\| Infiltrating Carcinoma of the Breast with Fibrotic Stroma \|\| Scirrhous Breast Carcinoma \|\| Scirrhous Carcinoma of Breast \|\| Scirrhous Carcinoma of the Breast	An infiltrating ductal breast carcinoma associated with stromal fibrosis.
C165258	Cellosaurus Disease Terminology	C40359	Breast Squamous Cell Carcinoma, Acantholytic Variant	Breast Squamous Cell Carcinoma, Acantholytic Variant	Squamous Cell Breast Carcinoma, Acantholytic Variant	A squamous cell carcinoma that arises from the breast parenchyma and is characterized by cellular discohesion resulting in a pseudoangiosarcomatous pattern.
C165258	Cellosaurus Disease Terminology	C35875	Bronchogenic Carcinoma	Bronchogenic Carcinoma	Bronchial Carcinoma \|\| Bronchiogenic Carcinoma \|\| Bronchogenic Lung Carcinoma	A lung carcinoma arising from the bronchial epithelium.
C165258	Cellosaurus Disease Terminology	C133724	Brown-Vialetto-Van Laere Syndrome 1	Brown-Vialetto-Van Laere Syndrome 1	Bulbar Palsy, Progressive, with Sensorineural Deafness	An autosomal recessive neurologic condition caused by mutation(s) in the SLC52A3 gene, encoding solute carrier family 52, riboflavin transporter, member 3. It is characterized by sensorineural hearing loss and varying cranial nerve palsies, usually affecting the motor components of the seventh and ninth to twelfth cranial nerves. Spinal motor nerves are often affected. Mutations in SLC52A3 may result in Faxio-Lone disease, which is a similar condition, but sensorineural deafness is not present.
C165258	Cellosaurus Disease Terminology	C183529	Brown-Vialetto-Van Laere Syndrome 2	Brown-Vialetto-Van Laere Syndrome 2		A rare autosomal recessive condition caused by mutation(s) in the SLC52A2 gene, encoding solute carrier family 52, riboflavin transporter, member 2. It is characterized by progressive pontobulbar palsy associated with sensorineural deafness, which may include respiratory compromise.
C165258	Cellosaurus Disease Terminology	C142891	Brugada Syndrome	Brugada Syndrome	Right Bundle Branch Block, ST Segment Elevation, and Sudden Death Syndrome	A genetically heterogeneous condition characterized by complete or incomplete right bundle branch block accompanied by ST elevation in leads V1-V3. There is a high incidence of ventricular arrhythmia that may result in sudden death.
C165258	Cellosaurus Disease Terminology	C73511	Bruxism	Bruxism		Excessive clenching of the jaw and grinding of the teeth.
C165258	Cellosaurus Disease Terminology	C4040	Buccal Mucosa Squamous Cell Carcinoma	Buccal Mucosa Squamous Cell Carcinoma	SCC of Buccal Mucosa \|\| SCC of the Buccal Mucosa \|\| Squamous Cell Carcinoma of Buccal Mucosa \|\| Squamous Cell Carcinoma of the Buccal Mucosa	A squamous cell carcinoma of the oral cavity that arises from the buccal mucosa.
C165258	Cellosaurus Disease Terminology	C134943	Budgerigar Fibrosarcoma	Budgerigar Fibrosarcoma		Fibrosarcoma that occurs in a budgerigar.
C165258	Cellosaurus Disease Terminology	C135003	Budgerigar Testicular Carcinoma	Budgerigar Testicular Carcinoma		Carcinoma that arises in the testicle of a budgerigar.
C165258	Cellosaurus Disease Terminology	C35070	Buerger Disease	Buerger Disease	Buerger's Disease \|\| Thromboangiitis Obliterans	An inflammatory vascular disorder that affects small and medium-sized arteries and veins in the extremities. The inflammatory process is initiated in the tunica intima and results in thrombosis and vascular obstruction with subsequent ischemia and ulceration of the limbs and digits. It affects males more often than females and usually occurs at age 20-45 years. It is strongly associated with heavy tobacco use.
C165258	Cellosaurus Disease Terminology	C2912	Burkitt Lymphoma	Burkitt Lymphoma	Burkitt's Lymphoma	A highly aggressive lymphoma composed of monomorphic medium-sized B-cells with basophilic cytoplasm and numerous mitotic figures. It is often associated with the presence of Epstein-Barr virus (EBV) and is commonly seen in AIDS patients. Three morphologic variants are recognized: classical Burkitt lymphoma, Burkitt lymphoma with plasmacytoid differentiation, and atypical Burkitt/Burkitt-like lymphoma. All cases express the MYC translocation [t(8;14)]. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C98863	Butyryl-CoA Dehydrogenase Deficiency	Butyryl-CoA Dehydrogenase Deficiency	2-Methylbutyryl-CoA Dehydrogenase Deficiency	A rare autosomal recessive inherited disorder caused by mutations in the ACADSB gene. It is characterized by deficiency of the enzyme 2-methylbutyryl-CoA dehydrogenase which is involved in the metabolism of isoleucine. Signs and symptoms include vomiting, lethargy, irritable mood, and developmental delays. It may also lead to breathing difficulties, seizures, and coma.
C165258	Cellosaurus Disease Terminology	C84606	CADASIL Syndrome	CADASIL Syndrome		A hereditary cerebrovascular disorder caused by mutations in the Notch 3 gene. It is characterized by alterations of the muscular wall of the small vessels in the brain, resulting in transient ischemic attacks. It may lead to cognitive problems and dementia.
C165258	Cellosaurus Disease Terminology	C159655	CALFAN Syndrome	CALFAN Syndrome	Cholestasis, Acute Liver Failure, and Neurodegeneration	A condition caused by biallelic mutation(s) in the SCYL1 gene, encoding N-terminal kinase-like protein. It is characterized by peripheral neuropathy, cerebellar atrophy, ataxia, and recurrent episodes of liver failure.
C165258	Cellosaurus Disease Terminology	C84609	Campomelic Dysplasia	Campomelic Dysplasia		A genetic congenital disorder characterized by bowing and angulation of the long bones. It may be associated with other skeletal and extraskeletal defects.
C165258	Cellosaurus Disease Terminology	C84611	Canavan Disease	Canavan Disease		A disorder that belongs in the group of leukodystrophies. It is caused by mutations in the ASPA gene which is responsible for the production of the enzyme aspartoacylase. It is characterized by spongy degeneration of the white matter of the brain. Signs and symptoms appear in infancy and include mental retardation, loss of motor skills, abnormal muscle tone, feeding difficulties and a very large head.
C165258	Cellosaurus Disease Terminology	C134956	Canine Acanthomatous Epulis	Canine Acanthomatous Epulis		A tumor arising from odontogenic epithelium and occurs in a dog.
C165258	Cellosaurus Disease Terminology	C210824	Canine Astrocytoma	Canine Astrocytoma	Boo-HA	Astrocytoma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C186279	Canine Cutaneous T-Cell Lymphoma	Canine Cutaneous T-Cell Lymphoma		Cutaneous T-cell lymphoma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C158783	Canine Gastrointestinal Stromal Tumor	Canine Gastrointestinal Stromal Tumor		A gastrointestinal stromal tumor occurring in a dog.
C165258	Cellosaurus Disease Terminology	C129297	Canine Glioma	Canine Glioma		A brain or spinal cord tumor arising from glial cells that occurs in dogs.
C165258	Cellosaurus Disease Terminology	C133088	Canine Globoid Cell Leukodystrophy	Canine Globoid Cell Leukodystrophy		Globoid cell leukodystrophy that occurs in a dog.
C165258	Cellosaurus Disease Terminology	C129034	Canine GM1-Gangliosidosis	Canine GM1-Gangliosidosis		GM1-gangliosidosis that occurs in dogs, caused by mutation(s) in the GLB1 gene, encoding beta-galactosidase.
C165258	Cellosaurus Disease Terminology	C158784	Canine Granular Cell Tumor	Canine Granular Cell Tumor		A granular cell tumor occurring in a dog.
C165258	Cellosaurus Disease Terminology	C122783	Canine Hemangiosarcoma	Canine Hemangiosarcoma		Hemangiosarcoma occurring in a dog. It is an incurable tumor of vascular endothelial cells and occurs more commonly in dogs beyond middle age, and is especially common in certain breeds. Most hemangiosarcomas do not have a known cause.
C165258	Cellosaurus Disease Terminology	C129298	Canine Hepatocellular Carcinoma	Canine Hepatocellular Carcinoma		A malignant tumor arising from hepatocytes that occurs in dogs.
C165258	Cellosaurus Disease Terminology	C128125	Canine Histiocytic Sarcoma	Canine Histiocytic Sarcoma		A malignant neoplasm that affects dogs, characterized by the presence of malignant cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
C165258	Cellosaurus Disease Terminology	C158785	Canine Langerhans Cell Histiocytosis	Canine Langerhans Cell Histiocytosis		Langerhans cell histiocytosis occurring in a dog.
C165258	Cellosaurus Disease Terminology	C128120	Canine Leukemia	Canine Leukemia		An acute or chronic malignant (clonal) hematologic disorder, arising from hematopoietic stem cells in dogs. It is characterized by the presence of primitive or atypical myeloid or lymphoid cells in the bone marrow and the blood.
C165258	Cellosaurus Disease Terminology	C129299	Canine Lung Adenocarcinoma	Canine Lung Adenocarcinoma		A carcinoma that arises from the lung in dogs and is characterized by the presence of malignant glandular epithelial cells.
C165258	Cellosaurus Disease Terminology	C128121	Canine Lymphoma	Canine Lymphoma		A malignant lymphoproliferative disorder that affects dogs. It is characterized by the clonal proliferation of B- or T-lymphocytes in the lymph nodes, bone marrow, and/or extranodal sites.
C165258	Cellosaurus Disease Terminology	C147073	Canine Mammary Adenoma	Canine Mammary Adenoma		An adenoma arising from the mammary gland of a dog.
C165258	Cellosaurus Disease Terminology	C124249	Canine Mammary Carcinoma	Canine Mammary Carcinoma		Mammary carcinoma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C129077	Canine Mastocytoma	Canine Mastocytoma		A tumor composed of mast cells that occurs in dogs.
C165258	Cellosaurus Disease Terminology	C120298	Canine Melanoma	Canine Melanoma		Melanoma occurring in a dog. It is the most common malignant tumor found in the mouths of dogs and also occurs frequently on the digits. All canine melanomas are locally invasive and malignant canine melanomas show a high rate of metastasis. Melanoma in dogs has been established as a relevant model for human melanoma.
C165258	Cellosaurus Disease Terminology	C134526	Canine Neoplasm	Canine Neoplasm		A neoplasm that occurs in dogs.
C165258	Cellosaurus Disease Terminology	C158786	Canine Nephroblastoma	Canine Nephroblastoma		A nephroblastoma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C205646	Canine NK Cell Neoplasm	Canine NK Cell Neoplasm	Canine Natural Killer Cell Neoplasm	A group of neoplasms composed of NK cells occurring in a dog.
C165258	Cellosaurus Disease Terminology	C210818	Canine Oligodendroglioma	Canine Oligodendroglioma		Oligodendroglioma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C185639	Canine Oral Melanoma	Canine Oral Melanoma		A melanoma that affects the lip and/or oral cavity of a dog.
C165258	Cellosaurus Disease Terminology	C132823	Canine Oral Squamous Cell Carcinoma	Canine Oral Squamous Cell Carcinoma		Oral squamous cell carcinoma that occurs in a dog.
C165258	Cellosaurus Disease Terminology	C120045	Canine Osteosarcoma	Canine Osteosarcoma	Dog Osteosarcoma	An osteosarcoma of mesenchymal origin in a dog. It is the most common bone cancer in dogs, most often developing in the limbs of large or giant breed dogs. The morphologic and biologic behavior of canine osteosarcomas is similar to that of human osteosarcomas.
C165258	Cellosaurus Disease Terminology	C134944	Canine Pancreatic Carcinoma	Canine Pancreatic Carcinoma		Pancreatic carcinoma that occurs in a dog.
C165258	Cellosaurus Disease Terminology	C128122	Canine Prostate Carcinoma	Canine Prostate Carcinoma		A malignant epithelial neoplasm arising from the prostate gland of a dog.
C165258	Cellosaurus Disease Terminology	C129300	Canine Rhabdomyosarcoma	Canine Rhabdomyosarcoma		A malignant mesenchymal neoplasm arising from skeletal muscle that occurs in dogs.
C165258	Cellosaurus Disease Terminology	C128195	Canine Sarcoma	Canine Sarcoma		A malignant mesenchymal neoplasm that affects dogs. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels.
C165258	Cellosaurus Disease Terminology	C176701	Canine Sebaceous Gland Epithelioma	Canine Sebaceous Gland Epithelioma		Sebaceous epithelioma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C132276	Canine Soft Tissue Sarcoma	Canine Soft Tissue Sarcoma		Soft tissue sarcoma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C132275	Canine Thyroid Adenocarcinoma	Canine Thyroid Adenocarcinoma		Adeonocarcinoma of the thyroid gland occurring in a dog.
C165258	Cellosaurus Disease Terminology	C161006	Canine Thyroid Gland Medullary Carcinoma	Canine Thyroid Gland Medullary Carcinoma		Thyroid gland medullary carcinoma occurring in a dog.
C165258	Cellosaurus Disease Terminology	C128126	Canine Transitional Cell Carcinoma	Canine Transitional Cell Carcinoma		A malignant neoplasm that affects dogs, arising from transitional epithelium.
C165258	Cellosaurus Disease Terminology	C162473	Canine Transmissible Venereal Tumor	Canine Transmissible Venereal Tumor		A sexually transmitted tumor arising from histiocytes and occurring in dogs.
C165258	Cellosaurus Disease Terminology	C184988	Canine X-Linked Muscular Dystrophy	Canine X-Linked Muscular Dystrophy		X-linked muscular dystrophy occurring in a dog.
C165258	Cellosaurus Disease Terminology	C84612	Carbamoyl-Phosphate Synthetase I Deficiency	Carbamoyl-Phosphate Synthetase I Deficiency	Carbamoyl Phosphate Synthetase Deficiency	A congenital disorder caused by mutations in the CPS1 gene. It is characterized by accumulation of ammonia in the blood. Signs and symptoms appear in infancy and include lethargy, seizures, developmental delay and mental disability.
C165258	Cellosaurus Disease Terminology	C132290	Carbonic Anhydrase I Deficiency	Carbonic Anhydrase I Deficiency		Decreased or absent activity of the enzyme carbonic anhydrase 1, due to loss-of-function mutation(s) in the gene CA1.
C165258	Cellosaurus Disease Terminology	C132196	Carboxypeptidase N Deficiency	Carboxypeptidase N Deficiency		An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity.
C165258	Cellosaurus Disease Terminology	C21732	Carcinoma of the Mouse Prostate Gland	Carcinoma of the Mouse Prostate Gland
C165258	Cellosaurus Disease Terminology	C23140	Carcinoma of the Mouse Salivary Glands	Carcinoma of the Mouse Salivary Glands
C165258	Cellosaurus Disease Terminology	C64111	Carcinoma of the Rat Kidney	Carcinoma of the Rat Kidney	Rat Renal Carcinoma
C165258	Cellosaurus Disease Terminology	C64112	Carcinoma of the Rat Lung	Carcinoma of the Rat Lung	Rat Lung Carcinoma
C165258	Cellosaurus Disease Terminology	C64039	Carcinosarcoma of the Rat Mammary Gland	Carcinosarcoma of the Rat Mammary Gland
C165258	Cellosaurus Disease Terminology	C179868	Cardiac, Facial, and Digital Anomalies with Developmental Delay	Cardiac, Facial, and Digital Anomalies with Developmental Delay	TRAF7 Syndrome	An autosomal dominant condition caused by mutation(s) in the TRAF7 gene, encoding E3 ubiquitin-protein ligase TRAF7. It is characterized by developmental delay, cardiac, facial, and digital anomalies.
C165258	Cellosaurus Disease Terminology	C84617	Cardiofaciocutaneous Syndrome	Cardiofaciocutaneous Syndrome	Cardiofaciocutaneous (CFC) Syndrome	A rare genetic syndrome most often caused by BRAF gene mutations. It is characterized by a distinctive facial appearance (high forehead, short nose, and widely spaced eyes), sparse and brittle hair, skin disorders, heart malformations, mental retardation and developmental delay.
C165258	Cellosaurus Disease Terminology	C34830	Cardiomyopathy	Cardiomyopathy		A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.
C165258	Cellosaurus Disease Terminology	C188216	Cardiospondylocarpofacial Syndrome	Cardiospondylocarpofacial Syndrome		An autosomal dominant condition caused by mutation(s) in the MAP3K7 gene, encoding mitogen-activated protein kinase kinase kinase 7. It is characterized by growth retardation, short stature, failure to thrive, cardiac anomalies, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C4705	Carney Complex	Carney Complex	Atrial Myxoma with Lentigines \|\| Carney Syndrome \|\| Carney's Syndrome \|\| Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome \|\| Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome	An autosomal dominant disorder most often caused by mutations in the PRKAR1A gene. It is characterized by the presence of myxomas in the heart and skin, skin hyperpigmentation, increased endocrine activity and melanotic schwannomas.
C165258	Cellosaurus Disease Terminology	C114766	Carnitine Palmitoyltransferase II Deficiency	Carnitine Palmitoyltransferase II Deficiency	CPT II Deficiency	A rare, autosomal recessive inherited disorder of long-chain fatty-acid oxidation caused by mutations in the CPT2 gene. The disease includes three main types: a lethal neonatal form, a severe infantile hepatocardiomuscular form, and a myopathic form.
C165258	Cellosaurus Disease Terminology	C133086	Carnitine-Acylcarnitine Translocase Deficiency	Carnitine-Acylcarnitine Translocase Deficiency		An autosomal recessive condition caused by mutation(s) in the SLC25A20 gene, encoding mitochondrial carnitine/acylcarnitine carrier protein. It is characterized by cardiomyopathy, skeletal muscle damage, and liver dysfunction that results from derangement of long-chain fatty acid oxidation.
C165258	Cellosaurus Disease Terminology	C125661	Carnosinemia	Carnosinemia	Carnosinase Deficiency	A rare autosomal recessive metabolic disorder caused by mutation in CNDP1 gene. It is characterized by deficiency of carnosinase and manifests with severe mental defects and myoclonic seizures.
C165258	Cellosaurus Disease Terminology	C125662	Carotid Artery Dissection	Carotid Artery Dissection		Spontaneous or traumatic separation of the layers of the carotid artery wall. It manifests with headache, neck pain, temporary vision loss, and/or ischemic stroke.
C165258	Cellosaurus Disease Terminology	C34466	Cartilage Development Disorder	Cartilage Development Disorder	Chondrodystrophy	Any dysfunction in the growth of cartilage.
C165258	Cellosaurus Disease Terminology	C61245	Cartilage Hair Hypoplasia	Cartilage Hair Hypoplasia		A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency.
C165258	Cellosaurus Disease Terminology	C123414	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1	Catecholaminergic Polymorphic Ventricular Tachycardia Type 1		Polymorphic ventricular tachycardia induced by adrenergic stress. It is inherited in an autosomal dominant pattern and is caused by mutations in the ryanodine receptor 2 (RYR2) gene.
C165258	Cellosaurus Disease Terminology	C148368	Catecholaminergic Polymorphic Ventricular Tachycardia Type 2	Catecholaminergic Polymorphic Ventricular Tachycardia Type 2		An autosomal recessive condition caused by mutation(s) in the CASQ2 gene, encoding calsequestrin-2. It is characterized by a relative resting bradycardia and a slight prolongation of the QTc interval. Polymorphic ventricular tachycardia may be induced with exercise stress testing or isoproterenol infusion.
C165258	Cellosaurus Disease Terminology	C189278	Catecholaminergic Polymorphic Ventricular Tachycardia Type 3	Catecholaminergic Polymorphic Ventricular Tachycardia Type 3		An autosomal recessive subtype of catecholaminergic polymorphic ventricular tachycardia caused by mutation(s) in the TECRL gene, encoding trans-2,3-enoyl-CoA reductase-like.
C165258	Cellosaurus Disease Terminology	C75477	Cat-Eye Syndrome	Cat-Eye Syndrome		A rare genetic syndrome caused by abnormalities of chromosome 22. It is characterized by anal atresia with fistula formation, coloboma of the iris, down slanting palpebral fissures, and heart and kidney malformations.
C165258	Cellosaurus Disease Terminology	C168591	CD70 Deficiency	CD70 Deficiency		A rare primary immunodeficiency caused by homozygous CD70 mutation. It is characterized by susceptibility to Epstein-Barr virus infection, hypogammaglobulinemia, and development of B-cell non-Hodgkin lymphomas and Hodgkin lymphomas.
C165258	Cellosaurus Disease Terminology	C5543	Cecum Adenocarcinoma	Cecum Adenocarcinoma	Adenocarcinoma of Cecum \|\| Adenocarcinoma of the Cecum \|\| Cecal Adenocarcinoma	An adenocarcinoma arising from the cecum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C26714	Celiac Disease	Celiac Disease	Celiac Sprue \|\| Gluten-Induced Enteropathy \|\| Non Tropical Sprue	An autoimmune genetic disorder with an unknown pattern of inheritance that primarily affects the digestive tract. It is caused by intolerance to dietary gluten. Consumption of gluten protein triggers an immune response which damages small intestinal villi and prevents adequate absorption of nutrients. Clinical signs include abdominal cramping, diarrhea or constipation and weight loss. If untreated, the clinical course may progress to malnutrition, anemia, osteoporosis and an increased risk of intestinal malignancies. However, the prognosis is favorable with successful avoidance of gluten in the diet.
C165258	Cellosaurus Disease Terminology	C83010	Central Core Disease	Central Core Disease	Central Core Myopathy	An autosomal dominant congenital disorder affecting the skeletal muscles. Microscopically, it is characterized by disorganized areas, which are called cores, seen usually in the center of the muscle fibers. Clinically it presents as mild to severe muscle weakness. It may be associated with skeletal abnormalities including scoliosis, joint deformities, and hip dislocation.
C165258	Cellosaurus Disease Terminology	C9301	Central Nervous System Lymphoma	Central Nervous System Lymphoma	CNS Lymphoma \|\| Malignant Lymphomas of CNS \|\| Malignant Lymphomas of the CNS \|\| Primary CNS Lymphoma \|\| Primary Central Nervous System Lymphoma	A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis.
C165258	Cellosaurus Disease Terminology	C126689	Centronuclear Myopathy 1	Centronuclear Myopathy 1	CNM1	A myopathy inherited in an autosomal dominant or recessive pattern, caused by mutations in the DNM2, BIN1, and TTN genes. Microscopically there is central displacement of the nucleus in muscle cells. It is characterized by muscle weakness and atrophy in the skeletal muscles.
C165258	Cellosaurus Disease Terminology	C202046	Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome	Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome		A rare autosomal recessive condition caused by mutation(s) in the RFC1 gene, encoding replication factor C subunit 1. It is characterized by cerebellar dysfunction, bilateral vestibulopathy, and axonal neuropathy.
C165258	Cellosaurus Disease Terminology	C5150	Cerebellar Glioblastoma	Cerebellar Glioblastoma	Glioblastoma of Cerebellum \|\| Glioblastoma of the Cerebellum	A glioblastoma that occurs in the cerebellum.
C165258	Cellosaurus Disease Terminology	C157147	Cerebral Amyloid Angiopathy, APP-Related	Cerebral Amyloid Angiopathy, APP-Related	Hereditary Cerebral Hemorrhage with Amyloidosis-Dutch Type	An autosomal dominant form of cerebral amyloid angiopathy caused by mutation(s) in the APP gene, encoding amyloid-beta A4 protein. The deposition of amyloid in cerebral blood vessels wall may lead to degenerative vascular changes that may result in cerebral hemorrhage. Mutation(s) in the APP gene may also cause autosomal dominant Alzheimer disease 1.
C165258	Cellosaurus Disease Terminology	C84626	Cerebral Cavernous Malformation	Cerebral Cavernous Malformation		A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2, KRIT1 and PDCD10 genes. The capillaries fill with blood and stretch, thereby creating cavernous spaces. Some patients experience headaches, seizures, or visual and hearing disturbances. Cerebral hemorrhage may also occur.
C165258	Cellosaurus Disease Terminology	C125665	Cerebral Creatine Deficiency Syndrome 1	Cerebral Creatine Deficiency Syndrome 1	X-Linked Creatine Transporter Deficiency	A rare X-linked inherited disorder. It is caused by mutations in the SLC6A8 gene resulting in the absence of a compound needed to transport creatine into cells. It manifests with intellectual disability, seizures, short stature, and midface hypoplasia.
C165258	Cellosaurus Disease Terminology	C173468	Cerebral Creatine Deficiency Syndrome 2	Cerebral Creatine Deficiency Syndrome 2	Guanidinoacetate Methyltransferase Deficiency	An autosomal recessive disorder of creatine synthesis caused by mutations(s) in the GAMT gene on chromosome 19p13, encoding guanidinoacetate N-methyltransferase. It is characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid (GAA) in brain and body fluids.
C165258	Cellosaurus Disease Terminology	C198575	Cerebral Creatine Deficiency Syndrome 3	Cerebral Creatine Deficiency Syndrome 3	GATM Deficiency	An autosomal recessive condition caused by mutation(s) in the GATM gene, encoding glycine amidinotransferase, mitochondrial. The resulting enzyme deficiency is characterized by developmental delay, intellectual disability, and severe impairment of speech.
C165258	Cellosaurus Disease Terminology	C50485	Cerebral Hemorrhage	Cerebral Hemorrhage	Intracerebral Hemorrhage \|\| Parenchymatous Hemorrhage	Bleeding within the cerebrum.
C165258	Cellosaurus Disease Terminology	C34460	Cerebral Palsy	Cerebral Palsy		A group of disorders affecting the development of movement and posture, often accompanied by disturbances of sensation, perception, cognition, and behavior. It results from damage to the fetal or infant brain.
C165258	Cellosaurus Disease Terminology	C180840	Cerebral Vascular Insufficiency	Cerebral Vascular Insufficiency	Cerebrovascular Insufficiency \|\| Cerebral Artery Insufficiency	A condition resulting in inadequate blood flow through the blood vessels supplying the brain, due to intrinsic disease of the vasculature.
C165258	Cellosaurus Disease Terminology	C3817	Cerebrooculofacioskeletal Syndrome	Cerebrooculofacioskeletal Syndrome	Cerebro-Oculo-Facio-Skeletal Syndrome	A rare degenerative genetic disorder with an autosomal recessive pattern of inheritance that primarily affects the central nervous system. It is caused in some cases by mutations in the Cockayne syndrome group B gene, CSB/ERCC6, or the xeroderma pigmentosum genes: XPD/ERCC2, XPG/ERCC5, XPF/ERCC1, which are all involved in the transcription-coupled nucleotide excision repair pathway of DNA repair. It is currently thought to be part of the spectrum of disorders within Cockayne syndrome. Clinical signs at birth include microcephaly, hypotonia, abnormal reflexes and involuntary eye movements. The clinical prognosis is fatal with survivability beyond 5 years unlikely.
C165258	Cellosaurus Disease Terminology	C173085	Cerebrooculofacioskeletal Syndrome 1	Cerebrooculofacioskeletal Syndrome 1		An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
C165258	Cellosaurus Disease Terminology	C173104	Cerebrooculofacioskeletal Syndrome 4	Cerebrooculofacioskeletal Syndrome 4		An autosomal recessive subtype of cerebrooculofacioskeletal syndrome caused by mutation(s) in the ERCC1 gene, encoding DNA excision repair protein ERCC-1.
C165258	Cellosaurus Disease Terminology	C84628	Cerebrotendinous Xanthomatosis	Cerebrotendinous Xanthomatosis		A rare inherited lipid-storage disorder caused by defects in the CYP27A1 gene. It is characterized by progressive neurologic dysfunction, premature atherosclerosis and development of cataracts.
C165258	Cellosaurus Disease Terminology	C3390	Cerebrovascular Accident	Stroke	Cerebrovascular Accident \|\| Stroke Syndrome	A sudden loss of neurological function secondary to hemorrhage or ischemia in the brain parenchyma due to a vascular event.
C165258	Cellosaurus Disease Terminology	C4029	Cervical Adenocarcinoma	Cervical Adenocarcinoma	Adenocarcinoma of Cervix \|\| Adenocarcinoma of Cervix Uteri \|\| Adenocarcinoma of Uterine Cervix \|\| Adenocarcinoma of the Cervix \|\| Adenocarcinoma of the Cervix Uteri \|\| Adenocarcinoma of the Uterine Cervix \|\| Carcinoma of Endocervix \|\| Carcinoma of the Endocervix \|\| Cervix Adenocarcinoma \|\| Cervix Uteri Adenocarcinoma \|\| Endocervical Adenocarcinoma \|\| Endocervical Carcinoma \|\| Uterine Cervix Adenocarcinoma	An adenocarcinoma arising from the endocervical glandular epithelium. It is classified as either human papillomavirus-related or human papillomavirus-independent adenocarcinoma. Histologic variants include usual-type, mucinous, mesonephric, serous, clear cell, and endometrioid adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C4519	Cervical Adenosquamous Carcinoma	Cervical Adenosquamous Carcinoma	Adenosquamous Cell Carcinoma of Cervix \|\| Adenosquamous Cell Carcinoma of Cervix Uteri \|\| Adenosquamous Cell Carcinoma of Uterine Cervix \|\| Adenosquamous Cell Carcinoma of the Cervix \|\| Adenosquamous Cell Carcinoma of the Cervix Uteri \|\| Adenosquamous Cell Carcinoma of the Uterine Cervix \|\| Cervical Adenosquamous Cell Carcinoma \|\| Cervix Adenosquamous Cell Carcinoma \|\| Cervix Uteri Adenosquamous Cell Carcinoma \|\| Uterine Cervix Adenosquamous Cell Carcinoma	An uncommon carcinoma arising from the cervix. It is composed of malignant glandular epithelial cells and malignant squamous epithelial cells.
C165258	Cellosaurus Disease Terminology	C40212	Cervical Adenosquamous Carcinoma, Glassy Cell Variant	Cervical Poorly Differentiated Adenosquamous Carcinoma	Cervical Adenosquamous Carcinoma, Glassy Cell Variant	A poorly differentiated variant of adenosquamous carcinoma that arises from the cervix. It is characterized by the presence of large malignant cells with ground glass cytoplasm and stromal eosinophilic infiltrates.
C165258	Cellosaurus Disease Terminology	C9039	Cervical Carcinoma	Cervical Carcinoma	Cancer of Cervix \|\| Cancer of Uterine Cervix \|\| Cancer of the Cervix \|\| Cancer of the Uterine Cervix \|\| Carcinoma of Cervix \|\| Carcinoma of Cervix Uteri \|\| Carcinoma of Uterine Cervix \|\| Carcinoma of the Cervix \|\| Carcinoma of the Cervix Uteri \|\| Carcinoma of the Uterine Cervix \|\| Cervical Cancer \|\| Cervix Cancer \|\| Cervix Carcinoma \|\| Cervix Uteri Carcinoma \|\| Uterine Cervix Cancer \|\| Uterine Cervix Carcinoma	A carcinoma arising from either the exocervical squamous epithelium or the endocervical glandular epithelium. The major histologic types of cervical carcinoma are squamous cell carcinoma and adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C6344	Cervical Clear Cell Adenocarcinoma	Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell-Type	Cervical Clear Cell Adenocarcinoma \|\| Cervical Clear Cell Carcinoma \|\| Cervix Clear Cell Adenocarcinoma \|\| Cervix Clear Cell Carcinoma \|\| Cervix Uteri Clear Cell Adenocarcinoma \|\| Cervix Uteri Clear Cell Carcinoma \|\| Clear Cell Adenocarcinoma of Cervix \|\| Clear Cell Adenocarcinoma of Cervix Uteri \|\| Clear Cell Adenocarcinoma of Uterine Cervix \|\| Clear Cell Adenocarcinoma of the Cervix \|\| Clear Cell Adenocarcinoma of the Cervix Uteri \|\| Clear Cell Adenocarcinoma of the Uterine Cervix \|\| Clear Cell Carcinoma of Cervix \|\| Clear Cell Carcinoma of Cervix Uteri \|\| Clear Cell Carcinoma of Uterine Cervix \|\| Clear Cell Carcinoma of the Cervix \|\| Clear Cell Carcinoma of the Cervix Uteri \|\| Clear Cell Carcinoma of the Uterine Cervix \|\| HPV- Independent Cervical Adenocarcinoma, Clear Cell Type \|\| HPV- Independent Cervical Adenocarcinoma, Clear Cell-Type \|\| Human Papillomavirus-Independent Cervical Adenocarcinoma, Clear Cell Type \|\| Uterine Cervix Clear Cell Adenocarcinoma \|\| Uterine Cervix Clear Cell Carcinoma	Cervical adenocarcinoma not associated with human papillomavirus infection and characterized by the presence of clear and hobnail cells. It is associated with in utero exposure to diethylstilbestrol (DES).
C165258	Cellosaurus Disease Terminology	C6343	Cervical Endometrioid Adenocarcinoma	Cervical Endometrioid Adenocarcinoma	Cervical Endometrioid Carcinoma \|\| Cervix Endometrioid Adenocarcinoma \|\| Cervix Endometrioid Carcinoma \|\| Cervix Uteri Endometrioid Adenocarcinoma \|\| Cervix Uteri Endometrioid Carcinoma \|\| Endometrioid Adenocarcinoma of Cervix \|\| Endometrioid Adenocarcinoma of Cervix Uteri \|\| Endometrioid Adenocarcinoma of Uterine Cervix \|\| Endometrioid Adenocarcinoma of the Cervix \|\| Endometrioid Adenocarcinoma of the Cervix Uteri \|\| Endometrioid Adenocarcinoma of the Uterine Cervix \|\| Endometrioid Carcinoma of Cervix \|\| Endometrioid Carcinoma of Cervix Uteri \|\| Endometrioid Carcinoma of Uterine Cervix \|\| Endometrioid Carcinoma of the Cervix \|\| Endometrioid Carcinoma of the Cervix Uteri \|\| Endometrioid Carcinoma of the Uterine Cervix \|\| Uterine Cervix Endometrioid Adenocarcinoma \|\| Uterine Cervix Endometrioid Carcinoma	A cervical adenocarcinoma with the histologic characteristics of the endometrioid adenocarcinoma of the endometrium. It is not associated with human papillomavirus infection.
C165258	Cellosaurus Disease Terminology	C3782	Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	Cervical Dysplasia \|\| Cervix Intraepithelial Neoplasia \|\| Cervix Uteri Intraepithelial Neoplasia \|\| Intraepithelial Neoplasia of Cervix \|\| Intraepithelial Neoplasia of Cervix Uteri \|\| Intraepithelial Neoplasia of Uterine Cervix \|\| Intraepithelial Neoplasia of the Cervix \|\| Intraepithelial Neoplasia of the Cervix Uteri \|\| Intraepithelial Neoplasia of the Uterine Cervix \|\| Uterine Cervix Intraepithelial Neoplasia	Squamous or glandular intraepithelial neoplasia that affects the cervical mucosal epithelium. There is no evidence of stromal invasion. According to the degree of cellular atypia and the associated architectural changes, it is classified as low or high grade.
C165258	Cellosaurus Disease Terminology	C40187	Cervical Keratinizing Squamous Cell Carcinoma	Cervical Keratinizing Squamous Cell Carcinoma		A variant of cervical squamous cell carcinoma characterized by the presence of keratin pearls. Intercellular bridges and cytoplasmic keratinization are usually present.
C165258	Cellosaurus Disease Terminology	C40239	Cervical Melanoma	Cervical Melanoma	Melanoma of the Cervix	An aggressive malignant tumor of melanocytic origin that arises from the cervix.
C165258	Cellosaurus Disease Terminology	C40206	Cervical Mucinous Adenocarcinoma, Minimal Deviation Type	Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type	Cervical Adenoma Malignum \|\| Cervical Mucinous Adenocarcinoma, Gastric Type \|\| Cervical Mucinous Adenocarcinoma, Minimal Deviation Type \|\| Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant \|\| HPV-Independent Cervical Adenocarcinoma, Gastric-Type \|\| Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric Type	Cervical adenocarcinoma characterized by the presence of gastric differentiation. It is not associated with human papillomavirus infection.
C165258	Cellosaurus Disease Terminology	C128045	Cervical Neuroendocrine Carcinoma	Cervical Neuroendocrine Carcinoma	Cervical High Grade Neuroendocrine Neoplasm	A malignant, high grade neuroendocrine neoplasm that arises from the cervix. This category includes small cell and large cell neuroendocrine carcinoma.
C165258	Cellosaurus Disease Terminology	C7982	Cervical Small Cell Carcinoma	Cervical Small Cell Neuroendocrine Carcinoma	Cervical Small Cell Carcinoma \|\| Cervix Small Cell Carcinoma \|\| Cervix Uteri Small Cell Carcinoma \|\| Small Cell Carcinoma of Cervix \|\| Small Cell Carcinoma of Cervix Uteri \|\| Small Cell Carcinoma of Uterine Cervix \|\| Small Cell Carcinoma of the Cervix \|\| Small Cell Carcinoma of the Cervix Uteri \|\| Small Cell Carcinoma of the Uterine Cervix \|\| Uterine Cervix Small Cell Carcinoma	A small cell neuroendocrine carcinoma arising from the cervix.
C165258	Cellosaurus Disease Terminology	C180839	Cervical Squamous Cell Carcinoma, Not Otherwise Specified	Cervical Squamous Cell Carcinoma, Not Otherwise Specified	Cervical Squamous Cell Carcinoma, NOS	Cervical squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available.
C165258	Cellosaurus Disease Terminology	C4392	Cervical Symmetrical Lipomatosis	Cervical Symmetrical Lipomatosis	Multiple Symmetrical Lipomatosis	A neoplastic process characterized by a symmetric poorly circumscribed overgrowth of adipose tissue in the neck. It predominantly affects middle age men of Mediterranean origin.
C165258	Cellosaurus Disease Terminology	C75467	Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	Hereditary Motor and Sensory Neuropathy \|\| Hereditary Sensorimotor Neuropathy	An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
C165258	Cellosaurus Disease Terminology	C75468	Charcot-Marie-Tooth Disease Type 1A	Charcot-Marie-Tooth Disease Type 1A		Charcot-Marie-Tooth disease caused by mutations in the PMP22 gene (mapped to chromosome 17), resulting in peripheral nerve demyelination.
C165258	Cellosaurus Disease Terminology	C118782	Charcot-Marie-Tooth Disease Type 1B	Charcot-Marie-Tooth Disease Type 1B		Charcot-Marie-Tooth disease caused by mutations in the MPZ gene (mapped to chromosome 1q23.3). It results in sensorineural peripheral neuropathy.
C165258	Cellosaurus Disease Terminology	C150646	Charcot-Marie-Tooth Disease Type 2A2A	Charcot-Marie-Tooth Disease Type 2A2A	Charcot-Marie-Tooth Disease Type 2A2
C165258	Cellosaurus Disease Terminology	C122659	Charcot-Marie-Tooth Disease Type 2D	Charcot-Marie-Tooth Disease Type 2D		Charcot-Marie-Tooth disease inherited in an autosomal dominant pattern. It is caused by mutations in the GARS gene. It results in axonal peripheral neuropathy.
C165258	Cellosaurus Disease Terminology	C134953	Charcot-Marie-Tooth Disease Type 2E	Charcot-Marie-Tooth Disease Type 2E		A form of Charcot-Marie-Tooth disease which is inherited in an autosomal dominant manner. It is caused by mutation(s) in the NEFL gene, encoding neurofilament light polypeptide. It results in peripheral axonal neuropathy.
C165258	Cellosaurus Disease Terminology	C133886	Charcot-Marie-Tooth Disease Type 2K	Charcot-Marie-Tooth Disease Type 2K
C165258	Cellosaurus Disease Terminology	C168974	Charcot-Marie-Tooth Disease Type 2Y	Charcot-Marie-Tooth Disease Type 2Y		An autosomal dominant form of Charcot-Marie-Tooth disease caused by mutations in the VCP gene, encoding transitional endoplasmic reticulum ATPase.
C165258	Cellosaurus Disease Terminology	C190871	Charcot-Marie-Tooth Disease Type 4B3	Charcot-Marie-Tooth Disease Type 4B3		An autosomal recessive form of Charcot-Marie-Tooth disease caused by mutations in the SBF1 gene, encoding myotubularin-related protein 5.
C165258	Cellosaurus Disease Terminology	C129864	Charcot-Marie-Tooth Disease Type 4C	Charcot-Marie-Tooth Disease Type 4C		An autosomal recessive form of demyelinating Charcot-Marie-Tooth disease caused by mutations in the SH3TC2 gene, encoding SH3 domain and tetratricopeptide repeat-containing protein 2.
C165258	Cellosaurus Disease Terminology	C134954	Charcot-Marie-Tooth Disease Type 4J	Charcot-Marie-Tooth Disease Type 4J		A form of Charcot-Marie-Tooth disease which is inherited in an autosomal recessive manner. It is caused by mutation(s) in the FIG4 gene, encoding polyphosphoinositide phosphatase. It results in peripheral demyelinating motor and sensory neuropathy.
C165258	Cellosaurus Disease Terminology	C129068	Charcot-Marie-Tooth Neuropathy X Type 1	Charcot-Marie-Tooth Neuropathy X Type 1		Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females.
C165258	Cellosaurus Disease Terminology	C75100	CHARGE Syndrome	CHARGE Syndrome		A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.
C165258	Cellosaurus Disease Terminology	C2941	Chediak-Higashi Syndrome	Chediak-Higashi Syndrome		A rare autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due to deficient platelet dense bodies; neutropenia; neutrophils with impaired chemotaxis and bactericidal activity; recurrent infection; and abnormal natural killer (NK) cell function. CHS may be associated with hepatosplenomegaly, lymphadenopathy, anemia, thrombocytopenia, roentgenologic changes in bones, lungs and heart, and skin and psychomotor abnormalities; it is often fatal in childhood as a result of infection or an accelerated lymphoma-like phase. CHS occurs in mink, cattle, and mice, as well as man.
C165258	Cellosaurus Disease Terminology	C176588	CHEK2-Associated Li-Fraumeni Syndrome	CHEK2-Associated Li-Fraumeni-Like Syndrome	Li-Fraumeni Syndrome 2 \|\| Li-Fraumeni Syndrome, CHEK2-Associated \|\| Li-Fraumeni-Like Syndrome	An autosomal dominant cancer predisposition syndrome caused by germline mutations of the CHEK2 gene. It is associated with breast carcinoma, gastric carcinoma, colorectal carcinoma, thyroid gland carcinoma, kidney carcinoma, prostate carcinoma, and non-Hodgkin lymphoma.
C165258	Cellosaurus Disease Terminology	C84630	Cherubism	Cherubism	Familial Fibrous Dysplasia of the Jaws \|\| Familial Multilocular Cystic Disease of the Jaws	A rare autosomal dominant inherited disorder usually caused by mutations in the SH3BP2 gene. It is characterized by a prominent lower part of the face due to bilateral replacement of the mandibular or maxillary bones by lesions. The lesions contain osteoclast-like cells admixed with spindle-shaped mononuclear stromal cells. With time, the lesions become more fibrotic and less osteoclast-rich.
C165258	Cellosaurus Disease Terminology	C134556	Chicken Bursal Lymphoma	Chicken Bursal Lymphoma		A malignant lymphoma that arises in the bursa of Fabricius in a chicken.
C165258	Cellosaurus Disease Terminology	C134557	Chicken Fibrosarcoma	Chicken Fibrosarcoma		Fibrosarcoma that occurs in a chicken.
C165258	Cellosaurus Disease Terminology	C134558	Chicken Hepatoma	Chicken Hepatoma		Hepatoma that occurs in a chicken.
C165258	Cellosaurus Disease Terminology	C135004	Chicken Lymphoma	Chicken Lymphoma		Lymphoma that occurs in a chicken.
C165258	Cellosaurus Disease Terminology	C134945	Chicken Monocytic Leukemia	Chicken Monocytic Leukemia		Monocytic leukemia that occurs in a chicken.
C165258	Cellosaurus Disease Terminology	C135005	Chicken Neoplasm	Chicken Neoplasm		A neoplasm that occurs in a chicken.
C165258	Cellosaurus Disease Terminology	C128189	Childhood Absence Epilepsy	Childhood Absence Epilepsy		A common generalized epilepsy syndrome occurring in children, characterized by absence seizures of short duration. The cause of the syndrome is presumed to be genetic. Genes which are associated with the condition include GABRB3, GABRG2, GABRA1, CACNA1H, and ECA1.
C165258	Cellosaurus Disease Terminology	C3168	Childhood Acute Lymphoblastic Leukemia	Childhood Acute Lymphoblastic Leukemia	Childhood ALL \|\| Childhood Precursor Lymphoblastic Leukemia \|\| Pediatric ALL \|\| Pediatric Acute Lymphoblastic Leukemia	An acute lymphoblastic leukemia occurring during childhood. The majority of cases are B-acute lymphoblastic leukemias. Approximately 15% of the cases are T-acute lymphoblastic leukemias.
C165258	Cellosaurus Disease Terminology	C7972	Childhood Acute Megakaryoblastic Leukemia	Childhood Acute Megakaryoblastic Leukemia	Childhood Acute M7 Leukemia \|\| Childhood Acute Megakaryocytic Leukemia \|\| Childhood Acute Megakaryocytic Leukemia (M7) \|\| M7 Childhood Acute Megakaryocytic Leukemia \|\| M7 Pediatric Acute Megakaryocytic Leukemia \|\| Pediatric Acute M7 Leukemia \|\| Pediatric Acute Megakaryoblastic Leukemia \|\| Pediatric Acute Megakaryocytic Leukemia	An acute megakaryoblastic leukemia that occurs in children.
C165258	Cellosaurus Disease Terminology	C9163	Childhood Acute Monocytic Leukemia	Childhood Acute Monocytic Leukemia	Childhood Acute Differentiated Monocytic Leukemia (M5b) \|\| Childhood Acute M5b Leukemia \|\| Childhood Acute Monocytic Leukemia with Differentiation \|\| M5b Childhood Acute Differentiated Monocytic Leukemia \|\| M5b Pediatric Acute Differentiated Monocytic Leukemia \|\| Pediatric Acute Differentiated Monocytic Leukemia \|\| Pediatric Acute M5b Leukemia \|\| Pediatric Acute Monocytic Leukemia with Differentiation	An acute monocytic leukemia that occurs in children.
C165258	Cellosaurus Disease Terminology	C9160	Childhood Acute Myeloid Leukemia	Childhood Acute Myeloid Leukemia	Childhood AML \|\| Childhood Acute Myeloblastic Leukemia \|\| Childhood Acute Myelogenous Leukemia \|\| Pediatric AML \|\| Pediatric Acute Myeloblastic Leukemia \|\| Pediatric Acute Myelogenous Leukemia \|\| Pediatric Acute Myeloid Leukemia	An acute myeloid leukemia that occurs in children.
C165258	Cellosaurus Disease Terminology	C9381	Childhood Acute Myeloid Leukemia with Maturation	Childhood Acute Myeloid Leukemia with Maturation	Childhood Acute M2 Leukemia \|\| Childhood Acute Myeloblastic Leukemia with Maturation \|\| Childhood Acute Myeloblastic Leukemia with Maturation (M2) \|\| Childhood Acute Myelogenous Leukemia with Maturation \|\| M2 Childhood Acute Myeloblastic Leukemia with Maturation \|\| M2 Childhood Acute Myelogenous Leukemia \|\| M2 Childhood Acute Myelogenous Leukemia with Maturation \|\| M2 Childhood Acute Myeloid Leukemia with Maturation \|\| M2 Pediatric AGL \|\| M2 Pediatric Acute Myeloblastic Leukemia with Maturation \|\| M2 Pediatric Acute Myelogenous Leukemia \|\| M2 Pediatric Acute Myelogenous Leukemia with Maturation \|\| M2 Pediatric Acute Myeloid Leukemia with Maturation \|\| Pediatric Acute M2 Leukemia \|\| Pediatric Acute Myeloblastic Leukemia with Maturation \|\| Pediatric Acute Myelogenous Leukemia with Maturation \|\| Pediatric Acute Myeloid Leukemia with Maturation	An acute myeloid leukemia with maturation that occurs in children.
C165258	Cellosaurus Disease Terminology	C9140	Childhood B Acute Lymphoblastic Leukemia	Childhood B Acute Lymphoblastic Leukemia	B Cell Childhood ALL \|\| B Cell Childhood Acute Lymphoblastic Leukemia \|\| B Cell Pediatric ALL \|\| B Cell Pediatric Acute Lymphoblastic Leukemia \|\| B-Cell Childhood ALL \|\| B-Cell Childhood Acute Lymphoblastic Leukemia \|\| B-Cell Pediatric ALL \|\| B-Cell Pediatric Acute Lymphoblastic Leukemia \|\| Childhood Precursor B-Lymphoblastic Leukemia	A B acute lymphoblastic leukemia that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C68659	Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 \|\| Childhood B Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 \|\| Childhood B-Cell Acute Lymphoblastic Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 \|\| Philadelphia Positive Childhood Acute Lymphoblastic Leukemia \|\| Philadelphia Positive Childhood Precursor Lymphoblastic Leukemia	A B acute lymphoblastic leukemia that occurs during childhood. It is characterized by the presence of lymphoblasts that carry a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. It has an unfavorable clinical outcome.
C165258	Cellosaurus Disease Terminology	C7320	Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Childhood Chronic Myeloid Leukemia, BCR-ABL1 Positive	Childhood CML \|\| Childhood Chronic Myelogenous Leukemia \|\| Childhood Chronic Myelogenous Leukemia, BCR-ABL1 Positive \|\| Childhood Chronic Myelogenous Leukemia, BCR::ABL1 Positive \|\| Childhood Chronic Myeloid Leukemia \|\| Childhood Chronic Myeloid Leukemia, BCR::ABL1 Positive	A chronic myeloid leukemia, BCR-ABL1 positive occurring during childhood.
C165258	Cellosaurus Disease Terminology	C27576	Childhood Dermatomyositis	Childhood Dermatomyositis	Juvenile Dermatomyositis	An inflammatory myopathy of childhood resulting in muscle weakness, and associated with a characteristic skin rash.
C165258	Cellosaurus Disease Terminology	C27372	Childhood Desmoplastic Small Round Cell Tumor	Childhood Desmoplastic Small Round Cell Tumor	Pediatric Desmoplastic Small Round Cell Tumor	A desmoplastic small round cell tumor occurring in children.
C165258	Cellosaurus Disease Terminology	C115203	Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered	Childhood Embryonal Tumor with Multilayered Rosettes, C19MC-Altered	Childhood Ependymoblastoma	An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C7955	Childhood Hepatocellular Carcinoma	Childhood Hepatocellular Carcinoma	Childhood Carcinoma of Liver Cell \|\| Childhood Carcinoma of the Liver Cell \|\| Childhood Hepatoma \|\| Childhood Liver Cell Carcinoma \|\| Pediatric Carcinoma of Liver Cell \|\| Pediatric Carcinoma of the Liver Cell \|\| Pediatric Hepatocellular Carcinoma \|\| Pediatric Hepatoma \|\| Pediatric Liver Cell Carcinoma	A hepatocellular carcinoma that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C114483	Childhood Langerhans Cell Histiocytosis	Childhood Langerhans Cell Histiocytosis		Langerhans cell histiocytosis that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C5165	Childhood Lymphoma	Childhood Lymphoma	Pediatric Lymphoma	A Hodgkin or non-Hodgkin lymphoma that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C114812	Childhood Pineoblastoma	Childhood Pineoblastoma		A pineoblastoma that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C7953	Childhood T Acute Lymphoblastic Leukemia	Childhood T Acute Lymphoblastic Leukemia	Childhood Precursor T-Lymphoblastic Leukemia \|\| Childhood T-Acute Lymphoblastic Leukemia \|\| Childhood T-Cell Acute Lymphoblastic Leukemia \|\| T-Cell Childhood ALL \|\| T-Cell Childhood Acute Lymphoblastic Leukemia \|\| T-Cell Pediatric ALL \|\| T-Cell Pediatric Acute Lymphoblastic Leukemia	An acute lymphoblastic leukemia of T-cell origin occurring in children.
C165258	Cellosaurus Disease Terminology	C7210	Childhood T Lymphoblastic Lymphoma	Childhood T Lymphoblastic Lymphoma	Childhood Precursor T-Lymphoblastic Lymphoma \|\| Childhood T-Lymphoblastic Lymphoma	A T lymphoblastic lymphoma that occurs during childhood.
C165258	Cellosaurus Disease Terminology	C146897	Chimpanzee Trisomy 22	Chimpanzee Trisomy 22	Chimpanzee Down Syndrome	A condition resulting from the presence of an extra copy of chromosome 22 in chimpanzees. The condition is in many respects similar to Trisomy 21 in humans.
C165258	Cellosaurus Disease Terminology	C4436	Cholangiocarcinoma	Cholangiocarcinoma		A carcinoma that arises from the intrahepatic bile ducts, the hepatic ducts, or the common bile duct distal to the insertion of the cystic duct. The vast majority of tumors are adenocarcinomas.
C165258	Cellosaurus Disease Terminology	C4021	Chondroblastic Osteosarcoma	Chondroblastic Osteosarcoma	Chondroblastic Osteogenic Sarcoma	An osteosarcoma characterised by the presence of atypical cartilage of variable cellularity. It may or may not be associated with the presence of myxoid areas or focal bone formation.
C165258	Cellosaurus Disease Terminology	C84632	Chondrodysplasia Punctata	Chondrodysplasia Punctata		A rare congenital developmental disorder characterized by the presence of stippled foci of calcification in the hyaline cartilage, joint contractions, mental retardation and ichthyosis.
C165258	Cellosaurus Disease Terminology	C2946	Chondrosarcoma	Chondrosarcoma		A malignant cartilaginous matrix-producing mesenchymal neoplasm arising from the bone and soft tissue. It usually affects middle-aged to elderly adults. The pelvic bones, ribs, shoulder girdle, and long bones are the most common sites of involvement. Most chondrosarcomas arise de novo, but some may develop in a preexisting benign cartilaginous lesion.
C165258	Cellosaurus Disease Terminology	C202546	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress	Brain-Lung-Thyroid Syndrome	An autosomal dominant condition caused by mutation(s) in the NKX2-1 gene, encoding homeobox protein Nkx-2.1. It is characterized by choreoathetosis, congenital hypothyroidism, and pulmonary dysfunction.
C165258	Cellosaurus Disease Terminology	C4715	Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	Cancer of Choroid Plexus \|\| Cancer of the Choroid Plexus \|\| Carcinoma of Choroid Plexus \|\| Carcinoma of the Choroid Plexus \|\| Choroid Plexus Cancer	A malignant neoplasm arising from the choroid plexus. It shows anaplastic features and usually invades neighboring brain structures. Cerebrospinal fluid metastases are frequent. (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C3698	Choroid Plexus Papilloma	Choroid Plexus Papilloma	Papilloma of Choroid Plexus \|\| Papilloma of the Choroid Plexus	A benign, slow growing tumor which may cause symptoms by blocking cerebrospinal fluid pathways. It is characterized by the presence of delicate fibrovascular connective tissue fronds covered by a single layer of epithelial cells. Mitotic activity is extremely low. Surgical resection is usually curative. (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C34469	Choroideremia	Choroideremia	Progressive Choroidal Atrophy	A rare, X-linked inherited disorder characterized by choroid atrophy and retinal degeneration. It leads to progressive loss of vision.
C165258	Cellosaurus Disease Terminology	C4146	Chromophobe Renal Cell Carcinoma	Chromophobe Renal Cell Carcinoma	Chromophobe Adenocarcinoma \|\| Chromophobe Carcinoma \|\| Chromophobe Carcinoma of Kidney \|\| Chromophobe Carcinoma of the Kidney \|\| Chromophobe Cell Carcinoma of Kidney \|\| Chromophobe Cell Carcinoma of the Kidney \|\| Chromophobe RCC \|\| Renal Cell Carcinoma, Chromophobe Type	A type of carcinoma that comprises a minority of renal cell carcinomas. It is characterized by loss of chromosomes 1 and Y. Based on the cytoplasmic characteristics of the neoplastic cells, this type of carcinoma is classified as classic (typical), eosinophilic, or oncocytic. It has a much better prognosis than other renal cell carcinomas.
C165258	Cellosaurus Disease Terminology	C126692	Chromosome 15q11-q13 Duplication Syndrome	Chromosome 15q11-q13 Duplication Syndrome		A syndrome caused by duplication of chromosome 15q11-q13. It is characterized by autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems.
C165258	Cellosaurus Disease Terminology	C120408	Chromosome 16p11.2 Deletion Syndrome	Chromosome 16p11.2 Deletion Syndrome		A microdeletion at 16p11.2, characterized by a predisposition to obesity, developmental delay and autism spectrum disorders.
C165258	Cellosaurus Disease Terminology	C129875	Chromosome 16p12.1 Deletion Syndrome	Chromosome 16p12.1 Deletion Syndrome	Chromosome 16p12.1 Deletion Syndrome, 520-KB	A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.
C165258	Cellosaurus Disease Terminology	C129021	Chromosome 2q37 Deletion Syndrome	Chromosome 2q37 Deletion Syndrome	Brachydactyly Mental Retardation Syndrome	A syndrome of high phenotypic variability caused by contiguous gene deletions in 2q37. The inheritance is autosomal dominant. The condition may be characterized by brachydactly type E; mental retardation; short stature; and other skeletal, cardiovascular, and neurologic manifestations.
C165258	Cellosaurus Disease Terminology	C13375	Chromosome Fragile Site	Chromosome Fragile Site	Fragile Site	Heritable sensitive regions of chromosomes which show up in vitro as non-staining bands. They are associated with chromosome breakage and other aberrations. No abnormal phenotype has been definitely identified with autosomal fragile sites, but some rare autosomal recessive disorders may be due to homozygosity for fragile sites. A fragile site on the X chromosome is associated with Fragile X Syndrome. Fragile sites are designated by the letters "fra" followed by the designation for the specific chromosome and locus.
C165258	Cellosaurus Disease Terminology	C126348	Chronic Active EBV Disease	Chronic Active EBV Disease	CAEBV Infection \|\| Chronic Active EBV Infection \|\| Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form \|\| Chronic Active Epstein-Barr Virus Disease \|\| Systemic CAEBV of T-and NK-Cell Type \|\| Systemic Chronic Active EBV Disease \|\| Systemic Chronic Active EBV Infection of T-Cell and NK-Cell Type	An EBV-positive T-cell/NK-cell lymphoproliferative disorder characterized by repeated infectious mononucleosis-like symptoms, a very high titer of anti-EBV antibodies, and high levels of Epstein-Barr virus nucleic acids. Patients often develop progressive cellular and humoral immunodeficiency with pancytopenia and hypogammaglobulinemia.
C165258	Cellosaurus Disease Terminology	C4563	Chronic Eosinophilic Leukemia, Not Otherwise Specified	Chronic Eosinophilic Leukemia, Not Otherwise Specified	Chronic Eosinophilic Leukemia \|\| Chronic Eosinophilic Leukemia, NOS \|\| Eosinophilic Leukemia	A rare myeloproliferative neoplasm characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. Since acute eosinophilic leukemia is at best exceedingly rare, the term eosinophilic leukemia is normally used as a synonym for chronic eosinophilic leukemia. In cases in which it is impossible to prove clonality and there is no increase in blast cells, the diagnosis of "idiopathic hypereosinophilic syndrome" is preferred. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C26788	Chronic Granulomatous Disease	Chronic Granulomatous Disease	CGD	A rare genetic disorder with a predominantly X-linked recessive pattern of inheritance resulting in impaired phagocytic clearance of bacteria and fungi. It is caused by a defect in the phagocytic NADPH oxidase (phox) complex. The phagocytes can engulf pathogens but are unable to produce the microbicidal precursors needed to destroy them. Clinical signs of severe disease present in childhood with milder forms later in life. They include recurrent infection especially pneumonia, cervical lymphadenopathy and hepatosplenomegaly. The clinical course includes the appearance of granulomata in the skin and gastrointestinal or genitourinary tracts. The clinical prognosis is dependent on effectively treating and preventing infection.
C165258	Cellosaurus Disease Terminology	C116380	Chronic Infantile Neurological Cutaneous and Articular Syndrome	Chronic Infantile Neurological Cutaneous and Articular Syndrome	CINCA Syndrome \|\| Neonatal-Onset Multisystem Inflammatory Disease	A congenital autoinflammatory disorder that presents within a few days of birth and is characterized by a clinical triad of skin rash, chronic meningitis, and joint pain with recurrent fever and inflammation.
C165258	Cellosaurus Disease Terminology	C84636	Chronic Inflammatory Demyelinating Polyneuropathy	Chronic Inflammatory Demyelinating Polyneuropathy	Chronic Inflammatory Demyelinating Polyneuritis \|\| Chronic Inflammatory Demyelinating Polyradiculoneuropathy	An immunologic inflammatory disorder characterized by loss of myelin in the peripheral nerves. Patients present with progressive weakness and loss of sensory function in the legs and arms.
C165258	Cellosaurus Disease Terminology	C192634	Chronic Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudo Obstruction	A clinical phenotype of severe gut motility disorder, with generally a poor prognosis. The molecular basis of chronic intestinal pseudo-obstruction is genetically heterogeneous.
C165258	Cellosaurus Disease Terminology	C80078	Chronic Kidney Disease	Chronic Kidney Disease	CKD - Chronic Kidney Disease \|\| Chronic Renal Disease	Impairment of the renal function secondary to chronic kidney damage persisting for three or more months.
C165258	Cellosaurus Disease Terminology	C26966	Chronic Lymphadenitis	Chronic Lymphadenitis		Inflammation of the lymph nodes that is chronic in nature.
C165258	Cellosaurus Disease Terminology	C3163	Chronic Lymphocytic Leukemia	Chronic Lymphocytic Leukemia	B Cell CLL \|\| B Cell Chronic Lymphocytic Leukemia \|\| B Cell Lymphocytic Leukemia \|\| B-Cell CLL \|\| B-Cell Chronic Lymphocytic Leukemia \|\| B-Cell Chronic Lymphoid Leukemia \|\| B-Cell Lymphocytic Leukemia \|\| Chronic B-Cell Lymphocytic Leukemia \|\| Hematopoeitic - Chronic Lymphocytic Leukemia (CLL)	The most common type of chronic lymphoid leukemia. It comprises 90% of chronic lymphoid leukemias in the United States. Morphologically, the neoplastic cells are small, round B-lymphocytes. This type of leukemia is not considered to be curable with available therapy. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C39591	Chronic Lymphoproliferative Disorder of NK-Cells	Chronic Lymphoproliferative Disorder of NK-Cells	Chronic NK-Cell Lymphocytosis \|\| Chronic NK-LGL Lymphoproliferative Disorder \|\| Chronic NK-Large Granular Lymphocyte Lymphoproliferative Disorder \|\| Indolent Large Granular NK-Cell Lymphoproliferative Disorder \|\| Indolent NK-Cell Lymphoproliferative Disorder \|\| NK Large Granular Lymphocytic Leukemia \|\| NK-Cell Large Granular Lymphocyte Lymphocytosis \|\| NK-Large Granular Lymphocytic Leukemia \|\| NK-Type Lymphoproliferative Disorder of Granular Lymphocytes	An Epstein-Barr virus negative disorder with a chronic clinical course affecting predominantly adults and characterized by the proliferation of large granular lymphocytes with natural killer cell immunophenotype. The T-cell receptor genes are not rearranged.
C165258	Cellosaurus Disease Terminology	C3174	Chronic Myelogenous Leukemia, BCR-ABL1 Positive	Chronic Myeloid Leukemia, BCR-ABL1 Positive	BCR-ABL Positive Chronic Myelogenous Leukemia \|\| CML - Chronic Myelogenous Leukemia \|\| Chronic Granulocytic Leukemia \|\| Chronic Myelocytic Leukemia \|\| Chronic Myelogenous Leukemia \|\| Chronic Myelogenous Leukemia, BCR-ABL1 Positive \|\| Chronic Myelogenous Leukemia, BCR::ABL1 Positive \|\| Chronic Myelogenous Leukemias \|\| Chronic Myeloid Leukemia \|\| Chronic Myeloid Leukemia, BCR::ABL1 Positive \|\| Hematopoeitic - Chronic Myelocytic Leukemia (CML)	A chronic myeloproliferative neoplasm characterized by the expression of the BCR-ABL1 fusion gene. It presents with neutrophilic leukocytosis. It can appear at any age, but it mostly affects middle aged and older individuals. Patients usually present with fatigue, weight loss, anemia, night sweats, and splenomegaly. If untreated, it follows a biphasic or triphasic natural course; an initial indolent chronic phase which is followed by an accelerated phase, a blast phase, or both. Allogeneic stem cell transplantation and tyrosine kinase inhibitors delay disease progression and prolong overall survival.
C165258	Cellosaurus Disease Terminology	C3178	Chronic Myelomonocytic Leukemia	Chronic Myelomonocytic Leukemia		A myelodysplastic/myeloproliferative neoplasm which is characterized by persistent monocytosis, absence of a Philadelphia chromosome and BCR/ABL fusion gene, fewer than 20 percent blasts in the bone marrow and blood, myelodysplasia, and absence of PDGFRA or PDGFRB rearrangement.
C165258	Cellosaurus Disease Terminology	C3179	Chronic Neutrophilic Leukemia	Chronic Neutrophilic Leukemia	Neutrophilic Leukemia	A rare chronic myeloproliferative neoplasm characterized by neutrophilic leukocytosis. There is no detectable Philadelphia chromosome or BCR/ABL fusion gene.
C165258	Cellosaurus Disease Terminology	C202129	Chronic Non-Specific Multiple Ulcers of the Small Intestine	Chronic Non-Specific Multiple Ulcers of the Small Intestine		A clinical condition characterized by persistent and occult gastrointestinal bleeding, multiple sharply demarcated lesions surrounded by normal mucosa in the small intestine, which do not affect the muscular layer. It shares many features with NSAID-induced enteropathy. The etiology is not fully elucidated but may include a genetic component.
C165258	Cellosaurus Disease Terminology	C3199	Chronic Obstructive Pulmonary Disease	Chronic Obstructive Pulmonary Disease	Chronic Obstructive Airways Disease \|\| Chronic Obstructive Lung Disease \|\| Chronic Obstructive Pulmonary Disease (COPD)	A chronic and progressive lung disorder characterized by the loss of elasticity of the bronchial tree and the air sacs, destruction of the air sacs wall, thickening of the bronchial wall, and mucous accumulation in the bronchial tree. The pathologic changes result in the disruption of the air flow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough, and chest tightness. The two main types of chronic obstructive pulmonary disease are chronic obstructive bronchitis and emphysema.
C165258	Cellosaurus Disease Terminology	C84637	Chronic Pancreatitis	Chronic Pancreatitis		A chronic inflammatory process causing damage and fibrosis of the pancreatic parenchyma. Signs and symptoms include abdominal pain, malabsorption and diabetes mellitus.
C165258	Cellosaurus Disease Terminology	C35151	Chronic Sinusitis	Chronic Sinusitis		Inflammation of the paranasal sinuses that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties.
C165258	Cellosaurus Disease Terminology	C165663	CIC-DUX4 Sarcoma	CIC-DUX4 Sarcoma	CIC::DUX4 Sarcoma	An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions.
C165258	Cellosaurus Disease Terminology	C84638	Ciliary Motility Defect	Ciliary Motility Defect	Ciliary Motility Disorders	Defective movements of the cilia. It includes abnormal movements of the cilia in the nose and paranasal sinuses, the respiratory tract and spermatozoa.
C165258	Cellosaurus Disease Terminology	C2951	Cirrhosis	Cirrhosis	Liver Cirrhosis	A disorder characterized by replacement of the liver parenchyma with fibrous tissue and regenerative nodules. It is usually caused by alcoholism, hepatitis B, and hepatitis C. Complications include the development of ascites, esophageal varices, bleeding, and hepatic encephalopathy.
C165258	Cellosaurus Disease Terminology	C150601	Citrullinemia Type I	Citrullinemia Type I	Argininosuccinate Synthetase Deficiency	An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the ASS1 gene, encoding argininosuccinate synthetase.
C165258	Cellosaurus Disease Terminology	C150603	Citrullinemia Type II	Citrullinemia Type II		An autosomal recessive sub-type of citrullinemia caused by mutation(s) in the SLC25A13 gene, encoding calcium-binding mitochondrial carrier protein Aralar2.
C165258	Cellosaurus Disease Terminology	C178882	Class 3 Obesity	Class 3 Obesity	Class III Obesity \|\| Extreme Obesity \|\| Severe Obesity	Body mass index (BMI) greater than 40.
C165258	Cellosaurus Disease Terminology	C54300	Clear Cell Odontogenic Carcinoma	Clear Cell Odontogenic Carcinoma	Clear Cell Ameloblastoma \|\| Clear Cell Odontogenic Tumor	A usually aggressive malignant neoplasm arising from tooth-forming tissues. It more often affects older females and more frequently occurs in the mandible. It is characterized by the presence of malignant epithelial cells with clear cytoplasm and a fibrotic stroma formation. It may recur and metastasize. Metastases may occur in the lymph nodes, lungs, and bones. Treatment of choice is resection with clean margins.
C165258	Cellosaurus Disease Terminology	C4033	Clear Cell Renal Cell Carcinoma	Clear Cell Renal Cell Carcinoma	Clear Cell Carcinoma of Kidney \|\| Clear Cell Carcinoma of the Kidney \|\| Clear Cell RCC \|\| Conventional (Clear Cell) Renal Cell Carcinoma \|\| Conventional Renal Cell Carcinoma \|\| Kidney Clear Cell Carcinoma \|\| Renal Clear Cell Carcinoma	A malignant epithelial neoplasm of the kidney characterized by the presence of lipid-containing clear cells within a vascular network. The tumor may metastasize to unusual sites and late metastasis is common.
C165258	Cellosaurus Disease Terminology	C3745	Clear Cell Sarcoma of Soft Tissue	Clear Cell Sarcoma of Soft Tissue	Clear Cell Sarcoma of Soft Parts \|\| Clear Cell Sarcoma of Tendons and Aponeuroses	A rare malignant neoplasm with melanocytic differentiation characterized by the presence of polygonal or spindle shaped clear cells. This sarcoma usually affects the tendons and aponeuroses and is associated with a poor prognosis due to recurrences and metastases.
C165258	Cellosaurus Disease Terminology	C122656	Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Cleft Lip/Palate-Ectodermal Dysplasia Syndrome		A very rare genetic disorder characterized by cleft lip and palate, sparse scalp hair, and partial syndactyly of the fingers and toes.
C165258	Cellosaurus Disease Terminology	C87069	Cleft Palate	Cleft Palate		A congenital abnormality consisting of a fissure in the midline of the hard and/or soft palate; it is the result of the failure of the two sides of the palate to fuse during embryonic development.
C165258	Cellosaurus Disease Terminology	C75020	Cleidocranial Dysplasia	Cleidocranial Dysplasia	Cleidocranial Dysostosis	A rare autosomal dominant disorder caused by mutations in the RUNX2 gene. It is characterized by developmental abnormalities in the bones and teeth, including the complete or partial absence of the clavicles, delayed closure of the fontanels, protruding mandible, hypertelorism, scoliosis, and short stature.
C165258	Cellosaurus Disease Terminology	C5412	Clivus Chordoma	Clivus Chordoma	Chordoma of Clivus \|\| Chordoma of the Clivus \|\| Clival Chordoma	A chordoma that arises from the clivus.
C165258	Cellosaurus Disease Terminology	C84641	Clubfoot	Clubfoot	Clubbed Foot	The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply.
C165258	Cellosaurus Disease Terminology	C188148	Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly	Clubfoot, Congenital, with or without Deficiency of Long Bones and/or Mirror-Image Polydactyly	Familial Clubfoot due to PITX1 Point Mutation	An autosomal dominant condition caused by mutation(s) in the PITX1 gene, encoding pituitary homeobox 1. It is characterized by clubfoot, and may have associated long bone deformity and/or polydactyly.
C165258	Cellosaurus Disease Terminology	C9460	Cockayne Syndrome	Cockayne Syndrome		An autosomal recessive syndrome caused by mutations in the ERCC8 and ERCC6 genes. It is characterized by growth and developmental delay, vision and hearing impairment, and impairment of the peripheral nervous system function.
C165258	Cellosaurus Disease Terminology	C135725	Cockayne Syndrome Type A	Cockayne Syndrome Type A		Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8.
C165258	Cellosaurus Disease Terminology	C135726	Cockayne Syndrome Type B	Cockayne Syndrome Type B		Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6.
C165258	Cellosaurus Disease Terminology	C126744	Codas Syndrome	Codas Syndrome		A rare syndrome caused by mutations in the LONP1 gene. It is characterized by developmental delay, cerebral, ocular, dental, auricular, and skeletal abnormalities.
C165258	Cellosaurus Disease Terminology	C142083	Coenzyme Q10 Deficiency	Coenzyme Q10 Deficiency		A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency.
C165258	Cellosaurus Disease Terminology	C84643	Coffin-Lowry Syndrome	Coffin-Lowry Syndrome		An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis.
C165258	Cellosaurus Disease Terminology	C35321	Coffin-Siris Syndrome	Coffin-Siris Syndrome		A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor skills and speech with associated moderate mental retardation.
C165258	Cellosaurus Disease Terminology	C6194	Collecting Duct Carcinoma	Collecting Duct Carcinoma	Carcinoma of Collecting Ducts of Bellini \|\| Carcinoma of Kidney Collecting Duct \|\| Carcinoma of Renal Collecting Duct \|\| Carcinoma of the Kidney Collecting Duct \|\| Carcinoma of the Renal Collecting Duct \|\| Kidney Collecting Duct Carcinoma \|\| Renal Collecting Duct Carcinoma	Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor.
C165258	Cellosaurus Disease Terminology	C4349	Colon Adenocarcinoma	Colon Adenocarcinoma	Adenocarcinoma of Colon \|\| Adenocarcinoma of the Colon \|\| Colonic Adenocarcinoma	An adenocarcinoma arising from the colon. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, colonic adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C4910	Colon Carcinoma	Colon Carcinoma	Carcinoma of Colon \|\| Carcinoma of the Colon \|\| Colon Cancer \|\| Colonic Carcinoma	A malignant epithelial neoplasm that arises from the colon and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.
C165258	Cellosaurus Disease Terminology	C7966	Colon Mucinous Adenocarcinoma	Colon Mucinous Adenocarcinoma	Colloid Adenocarcinoma of Colon \|\| Colloid Adenocarcinoma of the Colon \|\| Colloid Colon Adenocarcinoma \|\| Colloidal Adenocarcinoma of Colon \|\| Colloidal Adenocarcinoma of the Colon \|\| Colloidal Colon Adenocarcinoma \|\| Colon Colloid Adenocarcinoma \|\| Colon Colloidal Adenocarcinoma \|\| Colonic Colloid Adenocarcinoma \|\| Colonic Colloidal Adenocarcinoma \|\| Colonic Mucinous Adenocarcinoma \|\| Mucinous Adenocarcinoma of Colon \|\| Mucinous Adenocarcinoma of the Colon \|\| Mucinous Colon Adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
C165258	Cellosaurus Disease Terminology	C7967	Colon Signet Ring Cell Adenocarcinoma	Colon Signet Ring Cell Adenocarcinoma	Colon Signet-Ring Cell Adenocarcinoma \|\| Colonic Signet Ring Cell Adenocarcinoma \|\| Signet Ring Cell Adenocarcinoma of Colon \|\| Signet Ring Cell Adenocarcinoma of the Colon \|\| Signet Ring Cell Colon Adenocarcinoma	An invasive adenocarcinoma of the colon characterized by the presence of malignant glandular epithelial cells which contain prominent intracytoplasmic mucin (signet ring cells). The signet ring cells constitute more than 50% of the malignant cells.
C165258	Cellosaurus Disease Terminology	C6761	Colon Small Cell Neuroendocrine Carcinoma	Colon Small Cell Neuroendocrine Carcinoma	Colon Small Cell Carcinoma \|\| Colonic Small Cell Carcinoma \|\| Small Cell Carcinoma of Colon \|\| Small Cell Carcinoma of the Colon \|\| Small Cell Colon Carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon. It is characterized by the presence of malignant small cells.
C165258	Cellosaurus Disease Terminology	C5105	Colorectal Adenocarcinoma	Colorectal Adenocarcinoma	Adenocarcinoma of Large Bowel \|\| Adenocarcinoma of Large Intestine \|\| Adenocarcinoma of the Large Bowel \|\| Adenocarcinoma of the Large Intestine \|\| Large Bowel Adenocarcinoma \|\| Large Intestine Adenocarcinoma	The most common type of colorectal carcinoma. It is characterized by the presence of malignant glandular epithelial cells invading through the muscularis mucosa into the submucosa. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C5673	Colorectal Adenoma	Colorectal Adenoma	Adenoma of Large Bowel \|\| Adenoma of Large Intestine \|\| Adenoma of the Large Bowel \|\| Adenoma of the Large Intestine \|\| Large Bowel Adenoma \|\| Large Intestine Adenoma	An adenoma that arises from the colon or rectum. The group of colorectal adenomas includes tubular, villous, and tubulovillous adenomas, traditional serrated adenomas, sessile serrated adenomas/polyps, and familial adenomatous polyposis.
C165258	Cellosaurus Disease Terminology	C2955	Colorectal Carcinoma	Colorectal Carcinoma	Cancer of Large Bowel \|\| Cancer of Large Intestine \|\| Cancer of the Large Bowel \|\| Cancer of the Large Intestine \|\| Carcinoma of Large Bowel \|\| Carcinoma of Large Intestine \|\| Carcinoma of the Large Bowel \|\| Carcinoma of the Large Intestine \|\| Colorectal Cancer \|\| Large Bowel Cancer \|\| Large Bowel Carcinoma \|\| Large Intestine Cancer \|\| Large Intestine Carcinoma	A malignant epithelial neoplasm that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas.
C165258	Cellosaurus Disease Terminology	C96157	Colorectal Large Cell Neuroendocrine Carcinoma	Colorectal Large Cell Neuroendocrine Carcinoma	Large Intestinal Large Cell Neuroendocrine Carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. It is characterized by the presence of malignant large cells.
C165258	Cellosaurus Disease Terminology	C43585	Colorectal Mucinous Adenocarcinoma	Colorectal Mucinous Adenocarcinoma		An invasive colorectal adenocarcinoma characterized by the presence of extracellular mucin pools that contain malignant glandular epithelial structures. The extracellular mucin pools occupy more than 50% of the malignant lesion.
C165258	Cellosaurus Disease Terminology	C96156	Colorectal Neuroendocrine Carcinoma	Colorectal Neuroendocrine Carcinoma	Colorectal NEC \|\| Large Intestinal Neuroendocrine Carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the colon or rectum. The mitotic count is more than 20 per 10 HPF. It is classified as either small or large cell neuroendocrine carcinoma based on the size of the malignant cells, the prominence of the nucleoli, and the amount of cytoplasm.
C165258	Cellosaurus Disease Terminology	C3828	Combined Hepatocellular Carcinoma and Cholangiocarcinoma	Combined Hepatocellular Carcinoma and Cholangiocarcinoma	Carcinoma of Liver and Intrahepatic Biliary Tract \|\| Carcinoma of the Liver and Intrahepatic Biliary Tract \|\| Cholangiohepatoma \|\| Hepatocholangiocarcinoma \|\| Liver and Intrahepatic Biliary Tract Carcinoma \|\| Mixed Hepatocellular Cholangiocarcinoma	A rare tumor containing unequivocal elements of both hepatocellular and cholangiocarcinoma that are intimately admixed. This tumor should be distinguished from separate hepatocellular carcinoma and cholangiocarcinoma arising in the same liver. The prognosis of this tumor is poor.
C165258	Cellosaurus Disease Terminology	C126558	Combined Lipase Deficiency	Combined Lipase Deficiency		A rare disorder caused by mutation in the LMF1 gene resulting in combined lipase deficiency with concomitant hypertriglyceridemia and associated disorders.
C165258	Cellosaurus Disease Terminology	C125663	Combined Oxidative Phosphorylation Deficiency 1	Combined Oxidative Phosphorylation Deficiency 1	COXPD1	A progressive, fatal autosomal recessive disorder. It results from a defect in the mitochondrial oxidative phosphorylation system. It manifests with growth retardation, microcephaly, hypertonicity, axial hypotonia, encephalopathy, cardiomyopathy, and liver dysfunction.
C165258	Cellosaurus Disease Terminology	C187986	Combined Oxidative Phosphorylation Deficiency 23	Combined Oxidative Phosphorylation Deficiency 23		An autosomal recessive condition caused by mutation(s) in the GTPBP3 gene, encoding tRNA modification GTPase GTPBP3, mitochondrial. It is characterized by childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms.
C165258	Cellosaurus Disease Terminology	C185238	Combined Oxidative Phosphorylation Deficiency 27	Combined Oxidative Phosphorylation Deficiency 27		An autosomal recessive condition caused by mutation(s) in the CARS2 gene, encoding probable cysteine--tRNA ligase, mitochondrial, resulting in a defect in the mitochondrial oxidative phosphorylation system. It is characterized by epileptic encephalopathy, and phenotypically variable clinical findings.
C165258	Cellosaurus Disease Terminology	C174440	Combined Oxidative Phosphorylation Deficiency 33	Combined Oxidative Phosphorylation Deficiency 33		An autosomal recessive condition caused by mutation(s) in the C1QBP gene, encoding complement component 1 Q subcomponent-binding protein, mitochondrial. The phenotype is highly variable.
C165258	Cellosaurus Disease Terminology	C180851	Combined Oxidative Phosphorylation Deficiency 8	Combined Oxidative Phosphorylation Deficiency 8	Combined Oxidative Phosphorylation Defect Type 8	An autosomal recessive condition caused by mutation(s) in the AARS2 gene, encoding alanine--tRNA ligase, mitochondrial. It is characterized by lethal infantile hypertrophic cardiomyopathy. Skeletal and brain involvement may be apparent.
C165258	Cellosaurus Disease Terminology	C26725	Common Variable Immunodeficiency	Common Variable Immunodeficiency	Acquired Agammaglobulinemia \|\| Secondary Hypogammaglobulinemia	A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.
C165258	Cellosaurus Disease Terminology	C120191	Complete androgen insensitivity syndrome	Complete Androgen Insensitivity Syndrome		A genetic disorder associate with a mutation in the AR gene, resulting in the complete resistance to androgenic hormones.
C165258	Cellosaurus Disease Terminology	C189285	Complex Cortical Dysplasia with other Brain Malformations 5	Complex Cortical Dysplasia with other Brain Malformations 5	TUBB2A Tubulinopathy	An autosomal dominant condition caused by mutation(s) in the TUBB2A gene, encoding tubulin beta-2A chain. It is characterized by cortical dysplasia and is associated with impaired intellectual development, hypotonia, global developmental delay, cortical dysplasia, and dysmorphic corpus callosum.
C165258	Cellosaurus Disease Terminology	C162399	Cone-Rod Dystrophy 2	Cone-Rod Dystrophy 2		An inherited condition caused by mutations in the CRX gene, encoding cone-rod homeobox protein. It is characterized by loss of visual acuity in early childhood or late adolescence, impaired color vision, loss of peripheral vision, and nyctalopia. The severity of symptoms may vary.
C165258	Cellosaurus Disease Terminology	C35261	Congenital Adrenal Gland Hypoplasia	Congenital Adrenal Gland Hypoplasia	Congenital Adrenal Hypoplasia	A rare genetic disorder that affects the adrenal gland. It usually presents in infancy with signs and symptoms of adrenal insufficiency. If it is not recognized and treated promptly, it may be lethal.
C165258	Cellosaurus Disease Terminology	C174439	Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency	Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency	Disordered Steroidogenesis due to Cytochrome P450 Oxidoreductase Deficiency	A genetic condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is characterized by glucocorticoid deficiency, sexual ambiguity in both boys and girls, and skeletal malformations.
C165258	Cellosaurus Disease Terminology	C129303	Congenital Bilateral Aplasia of the Vas Deferens	Congenital Bilateral Aplasia of the Vas Deferens		An autosomal recessive disorder that is associated with mutation(s) in the CFTR gene, encoding cystic fibrosis transmembrane conductance regulator. Mutation(s) in the same gene are associated with cystic fibrosis.
C165258	Cellosaurus Disease Terminology	C103172	Congenital Bleeding Disorder	Congenital Bleeding Disorder		A bleeding disorder that is diagnosed during childhood, with the presenting symptom of excessive bleeding.
C165258	Cellosaurus Disease Terminology	C98888	Congenital Cataract	Congenital Cataract		Cataract that is present at birth.
C165258	Cellosaurus Disease Terminology	C98889	Congenital Central Hypoventilation	Congenital Central Hypoventilation	Congenital Central Hypoventilation Syndrome	A disorder characterized by hypoventilation and hypoxemia. It appears early in life and is not associated with cardiopulmonary or neuromuscular abnormalities.
C165258	Cellosaurus Disease Terminology	C98890	Congenital Cerebellar Hypoplasia	Congenital Cerebellar Hypoplasia		Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
C165258	Cellosaurus Disease Terminology	C129865	Congenital Contractural Arachnodactyly	Congenital Contractural Arachnodactyly	Arthrogryposis, Distal, Type 9 \|\| Beals Syndrome	An autosomal dominant connective tissue disorder caused by mutation(s) in the FBN2 gene, encoding fibrillin-2. It is characterized by contractures, arachnodactyly, scoliosis, micrognathia, and crumpled ears.
C165258	Cellosaurus Disease Terminology	C3724	Congenital Cystic Hygroma	Cystic Hygroma	Congenital Cystic Hygroma \|\| Cystic Lymphatic Malformation	A congenital lymphatic malformation that usually arises from the neck and is characterized by cystic dilation of the lymphatic vessels.
C165258	Cellosaurus Disease Terminology	C126746	Congenital Disorder of Deglycosylation	Congenital Disorder of Deglycosylation		A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
C165258	Cellosaurus Disease Terminology	C126868	Congenital Disorder of Glycosylation Type Ia	Congenital Disorder of Glycosylation Type Ia		A congenital disorder of glycosylation subtype caused by mutation(s) in the PMM2 gene, encoding phosphomannomutase 2.
C165258	Cellosaurus Disease Terminology	C206519	Congenital Disorder of Glycosylation Type Ib	Congenital Disorder of Glycosylation Type Ib		An autosomal recessive congenital disorder of glycosylation subtype caused by mutation(s) in the MPI gene, encoding mannose-6-phosphate isomerase.
C165258	Cellosaurus Disease Terminology	C126869	Congenital Disorder of Glycosylation Type Ic	Congenital Disorder of Glycosylation Type Ic		A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG6 gene, encoding dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase.
C165258	Cellosaurus Disease Terminology	C126870	Congenital Disorder of Glycosylation Type Id	Congenital Disorder of Glycosylation Type Id		A congenital disorder of glycosylation subtype caused by mutation(s) in the ALG3 gene, encoding dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase.
C165258	Cellosaurus Disease Terminology	C126871	Congenital Disorder of Glycosylation Type Ie	Congenital Disorder of Glycosylation Type Ie		A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPM1 gene, encoding dolichol-phosphate mannosyltransferase subunit 1.
C165258	Cellosaurus Disease Terminology	C126872	Congenital Disorder of Glycosylation Type If	Congenital Disorder of Glycosylation Type If		A congenital disorder of glycosylation sub-type caused by mutation(s) in the MPDU1 gene, encoding mannose-P-dolichol utilization defect 1 protein.
C165258	Cellosaurus Disease Terminology	C126873	Congenital Disorder of Glycosylation Type Ig	Congenital Disorder of Glycosylation Type Ig		A congenital disorder of glycosylation sub-type caused by mutation(s) in the ALG12 gene, dol-P-Man:Man(7)GlcNAc(2)-PP-Dol alpha-1,6-mannosyltransferase.
C165258	Cellosaurus Disease Terminology	C206097	Congenital Disorder of Glycosylation Type Ih	Congenital Disorder of Glycosylation Type Ih	ALG8-CDG	An autosomal recessive congenital disorder of glycosylation subtype caused by mutation(s) in the ALG8 gene, encoding probable dolichyl pyrophosphate Glc1Man9GlcNAc2 alpha-1,3-glucosyltransferase.
C165258	Cellosaurus Disease Terminology	C126874	Congenital Disorder of Glycosylation Type Ij	Congenital Disorder of Glycosylation Type Ij		A congenital disorder of glycosylation sub-type caused by mutation(s) in the DPAGT1 gene, encoding UDP-N-acetylglucosamine--dolichyl-phosphate N-acetylglucosaminephosphotransferase.
C165258	Cellosaurus Disease Terminology	C175991	Congenital Dyserythropoietic Anemia Type II	Congenital Dyserythropoietic Anemia Type II	Hereditary Erythroblastic Multinuclearity with Positive Acidified-Serum Test \|\| SEC23B-CDG	An autosomal recessive subtype of congenital dyserythropoietic anemia caused by mutation(s) in the SEC23B gene, encoding protein transport protein Sec23B.
C165258	Cellosaurus Disease Terminology	C157148	Congenital Dyserythropoietic Anemia Type IV	Congenital Dyserythropoietic Anemia Type IV		An autosomal dominant sub-type of congenital dyserythropoietic anemia caused by mutation(s) in the KLF1 gene, encoding Krueppel-like factor 1.
C165258	Cellosaurus Disease Terminology	C27049	Congenital Eyelid Ptosis	Congenital Eyelid Ptosis		The drooping of the upper or lower eyelid that is present at the time of birth.
C165258	Cellosaurus Disease Terminology	C120046	Congenital Fiber-Type Disproportion	Congenital Fiber-Type Disproportion	Congenital Fiber-Type Disproportion Myopathy	A rare genetic disorder caused by mutations in the TPM3, ACTA1, RYR1 and SEPN1 genes. It is inherited in an autosomal dominant or recessive pattern and rarely in an X-linked pattern. It manifests with myopathy throughout the body, particularly in the muscles of the shoulders, upper arms, hips, and thighs. Affected individuals may have contractures, lordosis, or scoliosis. In a minority of cases mild to severe breathing problems may occur.
C165258	Cellosaurus Disease Terminology	C95834	Congenital Heart Disease	Congenital Heart Disease		A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale.
C165258	Cellosaurus Disease Terminology	C97071	Congenital Hepatic Fibrosis	Congenital Hepatic Fibrosis		A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts.
C165258	Cellosaurus Disease Terminology	C98876	Congenital Hydrocephalus	Congenital Hydrocephalus		Hydrocephalus that is present at birth.
C165258	Cellosaurus Disease Terminology	C102979	Congenital Hydronephrosis	Congenital Hydronephrosis		Collection of urine in the renal pelvis that results in dilatation of the renal pelvis and calyces that is present at birth.
C165258	Cellosaurus Disease Terminology	C131425	Congenital Hyperinsulinism	Congenital Hyperinsulinism		An etiologically heterogenous condition resulting in dysregulated insulin secretion whose cause is present from birth. It is the most common cause of persistent hypoglycemia in neonates, infants and children.
C165258	Cellosaurus Disease Terminology	C3944	Congenital Melanocytic Nevus	Congenital Melanocytic Nevus	Congenital Melanocytic Nevus of Skin \|\| Congenital Melanocytic Nevus of the Skin \|\| Congenital Nevus of Skin \|\| Congenital Nevus of the Skin \|\| Congenital Pigmented Nevus of Skin \|\| Congenital Pigmented Nevus of the Skin \|\| Congenital Pigmented Skin Nevus \|\| Congenital Skin Nevus	A melanocytic nevus that is present at birth. It may present as a small macular, papular, or plaque-like lesion or as a large brown to black hairy skin lesion.
C165258	Cellosaurus Disease Terminology	C6569	Congenital Mesoblastic Nephroma	Congenital Mesoblastic Nephroma	Mesoblastic Nephroma	A low grade childhood congenital malignant neoplasm arising from the kidney. It is characterized by the presence of fibroblastic cells. The majority of cases occur in the first year of life. Complete excision is usually associated with an excellent prognosis.
C165258	Cellosaurus Disease Terminology	C180842	Congenital Microtia	Congenital Microtia		A condition in which the external ear is underdeveloped or malformed.
C165258	Cellosaurus Disease Terminology	C126690	Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2	Congenital Muscular Dystrophy-Dystroglycanopathy with Mental Retardation Type B2	MDDGB2	An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.
C165258	Cellosaurus Disease Terminology	C84647	Congenital Myasthenic Syndrome	Congenital Myasthenic Syndrome		A group of rare genetic neuromuscular disorders characterized by neuromuscular junction defects. The defects are classified as presynaptic, synaptic, or postsynaptic. Signs and symptoms include muscle weakness, easy fatigability, feeding and respiratory difficulties, and scoliosis.
C165258	Cellosaurus Disease Terminology	C168997	Congenital Myasthenic Syndrome 12	Congenital Myasthenic Syndrome 12	CMS12	An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the GFPT1 gene, encoding glutamine--fructose-6-phosphate aminotransferase 1.
C165258	Cellosaurus Disease Terminology	C129304	Congenital Myasthenic Syndrome 5	Congenital Myasthenic Syndrome 5	Endplate Acetylcholinesterase Deficiency	Congenital myasthenic syndrome caused by mutation(s) in the COLQ gene, encoding acetylcholinesterase collagenic tail peptide. It is inherited in an autosomal recessive manner.
C165258	Cellosaurus Disease Terminology	C174216	Congenital Myasthenic Syndrome-4C	Congenital Myasthenic Syndrome-4C	Myasthenic Syndrome, Congenital, 4C, Associated with Acetylcholine Receptor Deficiency	An autosomal recessive form of congenital myasthenic syndrome caused by mutation(s) in the CHRNE gene, encoding acetylcholine receptor subunit epsilon.
C165258	Cellosaurus Disease Terminology	C35337	Congenital Nephrotic Syndrome	Congenital Nephrotic Syndrome		A rare autosomal recessive inherited nephrotic syndrome that is present in the first week of life. It manifests with edema and proteinuria and usually has a poor prognosis.
C165258	Cellosaurus Disease Terminology	C131427	Congenital Ovarian Failure	Congenital Ovarian Failure		Ovarian failure, the cause of which is present at birth.
C165258	Cellosaurus Disease Terminology	C61236	Congenital Pure Red Cell Aplasia	Diamond-Blackfan Anemia	Congenital Pure Red Cell Aplasia \|\| Diamond Blackfan Anemia \|\| Diamond-Blackfan Anemia	An inherited condition characterized by aplasia of the erythroid series only. The white cells and platelets are not affected. Patients develop anemia usually in infancy.
C165258	Cellosaurus Disease Terminology	C128190	Congenital Sucrase-Isomaltase Deficiency	Congenital Sucrase-Isomaltase Deficiency	Disaccharide Intolerance 1	An autosomal recessive genetic disorder caused by mutations in the SI gene, encoding sucrase-isomaltase, intestinal. The condition is characterized by malabsorption and osmotic diarrhea.
C165258	Cellosaurus Disease Terminology	C3080	Congestive Heart Failure	Congestive Heart Failure	Cardiac Failure Congestive	Failure of the heart to pump a sufficient amount of blood to meet the needs of the body tissues, resulting in tissue congestion and edema. Signs and symptoms include shortness of breath, pitting edema, enlarged tender liver, engorged neck veins, and pulmonary rales.
C165258	Cellosaurus Disease Terminology	C4550	Conjunctival Melanoma	Conjunctival Melanoma	Conjunctiva Melanoma \|\| Malignant Conjunctiva Melanoma \|\| Malignant Conjunctival Melanoma \|\| Malignant Melanoma of Conjunctiva \|\| Malignant Melanoma of the Conjunctiva \|\| Melanoma of Conjunctiva \|\| Melanoma of the Conjunctiva	A melanoma that arises from the conjunctiva.
C165258	Cellosaurus Disease Terminology	C4549	Conjunctival Squamous Cell Carcinoma	Conjunctival Squamous Cell Carcinoma	Conjunctiva Epidermoid Carcinoma \|\| Conjunctiva Squamous Cell Carcinoma \|\| Conjunctival Epidermoid Carcinoma \|\| Epidermoid Carcinoma of Conjunctiva \|\| Epidermoid Carcinoma of the Conjunctiva \|\| Squamous Cell Carcinoma of Conjunctiva \|\| Squamous Cell Carcinoma of the Conjunctiva	A low-grade squamous cell carcinoma that arises from the conjunctiva. It is the most common primary malignant tumor that arises from the conjunctiva. It usually affects older white males. Excessive exposure to sunlight is a risk factor. Patients may present with a mass, red eye, or pain.
C165258	Cellosaurus Disease Terminology	C75016	Cornelia De Lange Syndrome	Cornelia De Lange Syndrome		A rare syndrome characterized by low birth weight, delayed growth, mental retardation, behavioral problems, and a distinctive facial appearance (thin, arched eyebrows, low set ears, small teeth, and small nose). The majority of cases are caused by mutations in the NIPBL gene. Less severe forms of the syndrome are caused by mutations in the SMC1A and SMC3 genes.
C165258	Cellosaurus Disease Terminology	C26732	Coronary Artery Disease	Coronary Artery Disease	Coronary Disease	Narrowing of the coronary arteries due to fatty deposits inside the arterial walls. The diagnostic criteria may include documented history of any of the following: documented coronary artery stenosis greater than or equal to 50% (by cardiac catheterization or other modality of direct imaging of the coronary arteries); previous coronary artery bypass surgery (CABG); previous percutaneous coronary intervention (PCI); previous myocardial infarction. (ACC)
C165258	Cellosaurus Disease Terminology	C165530	Coronary Slow Flow Phenomenon	Coronary Slow Flow Phenomenon		An angiographic finding characterized by delayed progression of contrast medium into distal epicardial vessels in the absence of significant coronary artery disease.
C165258	Cellosaurus Disease Terminology	C133743	Cortical Dysplasia-Focal Epilepsy Syndrome	Cortical Dysplasia-Focal Epilepsy Syndrome	CDFE Syndrome	An autosomal recessive condition caused by mutation(s) in the CNTNAP2 gene, encoding contactin-associated protein-like 2. It is characterized by normal development until the onset of intractable focal seizures at age 1-9. After the onset of seizures, language regression, intellectual disability, hyperactivity, and impulsive behaviors begin to occur. The majority of children eventually fulfill the criteria for autism spectrum disorder.
C165258	Cellosaurus Disease Terminology	C129069	Corticobasal Degeneration	Corticobasal Degeneration	Cortical Basal Ganglionic Degeneration	A progressive neurodegenerative condition affecting the cerebral cortex and basal ganglia. The disorder is characterized by varying degrees of cognitive and motor impairment.
C165258	Cellosaurus Disease Terminology	C84652	Costello Syndrome	Costello Syndrome		A genetic syndrome caused by mutations in the HRAS gene. It is characterized by developmental delay, mental retardation, loose skin folds, cardiomyopathy, tachycardia, and structural heart defects. Patients are at an increased risk of developing benign or malignant neoplasms.
C165258	Cellosaurus Disease Terminology	C3076	Cowden Syndrome	Cowden Syndrome	Cowden Disease \|\| Cowden's Disease \|\| Ruvalcaba-Myhre-Smith Syndrome	An autosomal dominant hereditary syndrome characterized by a variety of hamartomas and neoplasms including verrucous skin lesions, fibromas of the oral cavity, facial trichilemmomas, hamartomatous colonic polyps, thyroid neoplasms, breast cancer, and dysplastic gangliocytomas of the cerebellum.
C165258	Cellosaurus Disease Terminology	C129305	Cranioectodermal Dysplasia	Cranioectodermal Dysplasia	Sensenbrenner Syndrome	An autosomal recessive disorder associated with mutation(s) in at least one of four genes (WDR35, IFT122, WDR19, or IFT43). It is characterized by distinctive abnormalities of the face and skull, in association with developmental abnormalities of the structures derived from ectodermal tissues.
C165258	Cellosaurus Disease Terminology	C84655	Craniosynostosis	Craniosynostosis		A congenital disorder characterized by earlier than normal closure of some or all sutures of the infant skull.
C165258	Cellosaurus Disease Terminology	C26802	Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	CJD \|\| Creutzfeldt-Jacob Disease	A rare transmittable degenerative disorder of the brain caused by prions. Morphologically it is characterized by spongiform degeneration of the cerebral and cerebellar cortex. Signs and symptoms include sleep disturbances, personality changes, aphasia, ataxia, muscle atrophy and weakness, visual loss, and myoclonus. It usually leads to death within a year from the onset of the disease.
C165258	Cellosaurus Disease Terminology	C34518	Cri du Chat Syndrome	Cri du Chat Syndrome	5p Deletion Syndrome \|\| Cat-Cry Syndrome	A genetic syndrome resulting from a partial deletion on the short arm of chromosome 5. It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure.
C165258	Cellosaurus Disease Terminology	C84656	Crigler-Najjar Syndrome	Crigler-Najjar Syndrome		A rare autosomal recessive inherited syndrome characterized by abnormalities in the metabolism of bilirubin. It results in the development of jaundice. It may cause brain damage in infancy.
C165258	Cellosaurus Disease Terminology	C173147	Crisponi/Cold-Induced Sweating Syndrome-1	Crisponi/Cold-Induced Sweating Syndrome-1	Cold-Induced Sweating Syndrome 1 \|\| Crisponi Syndrome \|\| Sohar-Crisponi Syndrome	An autosomal recessive condition caused by mutation(s) in the CRLF1 gene, encoding cytokine receptor-like factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy.
C165258	Cellosaurus Disease Terminology	C173148	Crisponi/Cold-Induced Sweating Syndrome-2	Crisponi/Cold-Induced Sweating Syndrome-2		An autosomal recessive condition caused by mutation(s) in the CLCF1 gene, encoding cardiotrophin-like cytokine factor 1. It is characterized by cold-induced sweating syndrome, dysmorphic features, poor sucking reflex, and temperature spikes presenting at infancy. It is clinically indistinguishable from Crisponi/cold-induced sweating syndrome-1.
C165258	Cellosaurus Disease Terminology	C2965	Crohn Disease	Crohn Disease	Crohn's Disease \|\| Regional Enteritis	A gastrointestinal disorder characterized by chronic inflammation involving all layers of the intestinal wall, noncaseating granulomas affecting the intestinal wall and regional lymph nodes, and transmural fibrosis. Crohn disease most commonly involves the terminal ileum; the colon is the second most common site of involvement.
C165258	Cellosaurus Disease Terminology	C7137	Cutaneous Mastocytosis	Cutaneous Mastocytosis		Mastocytosis characterized by infiltration of the skin by mast cells.
C165258	Cellosaurus Disease Terminology	C3510	Cutaneous Melanoma	Cutaneous Melanoma	Malignant Cutaneous Melanoma \|\| Malignant Melanoma (of Skin), Stage Unspecified \|\| Malignant Melanoma of Skin \|\| Malignant Melanoma of Skin Stage Unspecified \|\| Melanoma of Skin \|\| Melanoma of the Skin \|\| Skin Melanoma \|\| Skin, Melanoma	A primary melanoma arising from atypical melanocytes in the skin. Precursor lesions include acquired and congenital melanocytic nevi, and dysplastic nevi. Several histologic variants have been recognized, including superficial spreading melanoma, acral lentiginous melanoma, nodular melanoma, and lentigo maligna melanoma.
C165258	Cellosaurus Disease Terminology	C128451	Cutaneous Neurofibroma	Skin Neurofibroma	Cutaneous Neurofibroma \|\| Dermal Neurofibroma	A neurofibroma that grows along small branches of nerves in the dermis in patients with neurofibromatosis. It presents as a solid cutaneous tumor.
C165258	Cellosaurus Disease Terminology	C84663	Cutis Laxa	Cutis Laxa	Elastolysis	A congenital or acquired disorder affecting the elastic fibers of the skin. It is characterized by loss of elasticity resulting in loosening and folding of the skin.
C165258	Cellosaurus Disease Terminology	C3820	Cyclic Neutropenia	Cyclic Neutropenia	Cyclic Agranulocytosis \|\| Cyclic Hematopoiesis \|\| Dysplasia, Myelocytic Periodic \|\| Periodic Neutropenia	A hematologic disorder caused by a mutation in the ELANE (ELA2) gene; clinical manifestations include recurrent neutropenia with resultant susceptibility to infection leading to fever.
C165258	Cellosaurus Disease Terminology	C129070	Cystathioninuria	Cystathioninuria		An autosomal recessive disorder caused by mutations in the CTH gene, encoding cystathionine gamma-lyase. The condition is characterized by increased concentrations of cystathionine in the plasma and urine.
C165258	Cellosaurus Disease Terminology	C2975	Cystic Fibrosis	Cystic Fibrosis		A congenital, autosomal, metabolic disorder affecting the exocrine glands. The secretions of exocrine glands are abnormal, resulting in excessively viscid mucus production that causes obstruction of passageways, including pancreatic and bile ducts, intestines, and bronchi. Symptoms usually appear in childhood, and include meconium ileus, poor growth despite good appetite, malabsorption and foul bulky stools, chronic bronchitis with cough, recurrent pneumonia, bronchiectasis, emphysema, clubbing of the fingers, and salt depletion in hot weather secondary to increased sodium and chloride concentration in sweat.
C165258	Cellosaurus Disease Terminology	C2976	Cystinosis	Cystinosis		An autosomal recessive hereditary disorder characterized by defective transportation of cystine across the lysosomal membranes and systemic deposition of cystine crystals in the body. It is associated with slight increase of the plasma cystine, cystinuria, aminoaciduria, glycosuria, polyuria, hypophosphatemia, rickets, and renal tubular dysfunction.
C165258	Cellosaurus Disease Terminology	C84664	Cystinuria	Cystinuria		An autosomal recessive inherited metabolic disorder caused by mutations in the SLC3A1 and SLC7A9 genes. It is characterized by deficient re-absorption of cystine in the proximal tubules of the kidney. It results in the formation of stones in the kidney, ureter, and urinary bladder.
C165258	Cellosaurus Disease Terminology	C98910	Cytochrome-C Oxidase Deficiency	Cytochrome-C Oxidase Deficiency	Complex IV Deficiency \|\| Cytochrome C Oxidase Deficiency \|\| Mitochondrial Complex IV Deficiency	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
C165258	Cellosaurus Disease Terminology	C186308	Dactylomegaly	Dactylomegaly		A condition in which the fingers or toes are abnormally enlarged.
C165258	Cellosaurus Disease Terminology	C75012	Dandy-Walker Malformation	Dandy-Walker Malformation	Dandy-Walker Syndrome	A rare congenital brain malformation disorder characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa.
C165258	Cellosaurus Disease Terminology	C84665	Darier Disease	Darier Disease	Keratosis Follicularis	An autosomal dominant inherited chronic skin disorder caused by mutations in the ATP2A2 gene. It is characterized by the development of yellow-brown keratotic skin papules in the neck, ears, forehead, chest, back and groin. It is associated with fragility of the free margins of the nails.
C165258	Cellosaurus Disease Terminology	C119676	D-Bifunctional Protein Deficiency	D-Bifunctional Protein Deficiency	D-Bifunctional Enzyme Deficiency \|\| Multifunctional Enzyme Deficiency \|\| Peroxisomal Multifunctional Enzyme (MFE2) Deficiency \|\| Peroxisomal Multifunctional Enzyme Deficiency \|\| Pseudo-Zellweger Syndrome	A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.
C165258	Cellosaurus Disease Terminology	C84666	De Sanctis-Cacchione Syndrome	De Sanctis-Cacchione Syndrome		A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
C165258	Cellosaurus Disease Terminology	C27644	Deafness	Deafness		An inherited or acquired condition characterized by the inability to hear in one or both ears.
C165258	Cellosaurus Disease Terminology	C174444	Deafness, Autosomal Dominant 36	Deafness, Autosomal Dominant 36		An autosomal dominant condition caused by mutations in the TMC1 gene, encoding transmembrane channel-like protein 1. It is characterized by bilateral progressive hearing loss.
C165258	Cellosaurus Disease Terminology	C175700	Deafness, Autosomal Dominant 41	Deafness, Autosomal Dominant 41		An autosomal dominant condition caused by mutation(s) in the P2RX2 gene, encoding P2X purinoceptor 2. It is characterized by progressive sensorineural hearing loss, usually in the second decade of life.
C165258	Cellosaurus Disease Terminology	C201585	Deafness, Autosomal Dominant 58	Deafness, Autosomal Dominant 58		A genetic condition inherited in an autosomal dominant fashion linked to chromosome 2p21-p12, characterized by bilateral hearing loss.
C165258	Cellosaurus Disease Terminology	C201586	Deafness, Autosomal Recessive 12	Deafness, Autosomal Recessive 12		A genetic condition inherited in an autosomal recessive caused by mutation(s) in the CDH23 gene, encoding cadherin-23, characterized by progressive sensorineural hearing loss. Mutation(s) in the CDH23 gene may also cause Usher syndrome 1D.
C165258	Cellosaurus Disease Terminology	C129022	Deafness, Autosomal Recessive 1A	Deafness, Autosomal Recessive 1A		An autosomal recessive disorder caused by mutations in the GJB2 gene, encoding gap junction beta-2 protein. The condition is characterized by profound sensorineural hearing loss and may be associated with vestibular dysfunction.
C165258	Cellosaurus Disease Terminology	C129023	Deafness, Autosomal Recessive 28	Deafness, Autosomal Recessive 28		An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss.
C165258	Cellosaurus Disease Terminology	C129874	Deafness, Autosomal Recessive 39	Deafness, Autosomal Recessive 39		An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor. It is characterized by profound deafness.
C165258	Cellosaurus Disease Terminology	C158787	Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct	Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct	DFNB4	An autosomal recessive condition caused by mutation(s) in one of several genes, most often SLC26A4 encoding pendrin. It is characterized by hearing loss and enlargement of the vestibular aqueduct. Mutation(s) in the SLC26A4 gene also cause Pendred syndrome.
C165258	Cellosaurus Disease Terminology	C129024	Deafness, Autosomal Recessive 49	Deafness, Autosomal Recessive 49		An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness.
C165258	Cellosaurus Disease Terminology	C6476	Dedifferentiated Chondrosarcoma	Dedifferentiated Chondrosarcoma		An aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. Due to the aggressive nature of the disease, its prognosis is poor.
C165258	Cellosaurus Disease Terminology	C3704	Dedifferentiated Liposarcoma	Dedifferentiated Liposarcoma		An atypical lipomatous tumor/well differentiated liposarcoma that shows progression to a usually non-lipomatous, high grade sarcoma. The non-lipomatous sarcoma component may be present in the primary lesion or at the site of recurrence.
C165258	Cellosaurus Disease Terminology	C49343	Deep Vein Thrombosis	Deep Vein Thrombosis		A blood clot in a deep vein, predominantly in the lower extremity, but may include the pelvis or upper extremity.
C165258	Cellosaurus Disease Terminology	C133087	Dejerine-Sottas Neuropathy	Dejerine-Sottas Neuropathy	Charcot-Marie-Tooth Disease, Type 3 \|\| Hereditary Motor and Sensory Neuropathy Type III \|\| Hypertrophic Neuropathy of Dejerine-Sottas	A demyelinating peripheral neuropathy characterized by delayed motor development.
C165258	Cellosaurus Disease Terminology	C84521	Deletion 18p Syndrome	Deletion 18p Syndrome	18P Syndrome	A rare genetic syndrome characterized by the deletion of the short arm of chromosome 18. It is associated with mental and growth retardation, prominent ears and ptosis.
C165258	Cellosaurus Disease Terminology	C84522	Deletion 18q Syndrome	Deletion 18q Syndrome	18Q Syndrome \|\| Chromosome 18q Deletion Syndrome	A condition in which some or all of the cells of the body contain extra genetic material from chromosome 18. Clinical features of this condition may include the following: spina bifida, hearing loss, cleft lip, cleft palate, undescended testes, rocker bottom feet, micrognathia, low set ears, cardiac anomalies (ventricular septal defect, atrial septal defect, patent ductus arteriosus, tetralogy of Fallot), intellectual disability, holoprosencephaly, pituitary dysplasia, seizures, autoimmune disorders, hip dysplasia, and/or congenital cataracts.
C165258	Cellosaurus Disease Terminology	C123260	Dent Disease	Dent Disease	X-Linked Recessive Hypophosphatemic Rickets	An X-linked, recessive disorder of the proximal renal tubules that presents during childhood, and is characterized by low-molecular weight proteinuria, hypercalciuria, hypophosphatemia rickets, nephrocalcinosis, nephrolithiasis, and progressive kidney failure.
C165258	Cellosaurus Disease Terminology	C122653	Dentatorubral-Pallidoluysian Atrophy	Dentatorubral-Pallidoluysian Atrophy	Dentatorubropallidoluysian Atrophy	A rare, autosomal dominant inherited progressive neurodegenerative disorder. It is caused by a mutation in the ATN1 gene, resulting in a combined degeneration of the dentatorubral and pallidoluysian systems. It can appear at any age, but it usually affects individuals between 20 and 30 years and leads to death within 10-15 years. The clinical presentation depends on the age of the affected individual; juvenile patients develop severe progressive myoclonus epilepsy and cognitive decline, whereas adult patients develop ataxia, choreoathetosis and dementia.
C165258	Cellosaurus Disease Terminology	C84668	Denys-Drash Syndrome	Denys-Drash Syndrome	Denys Drash Syndrome	A rare congenital syndrome caused by mutations in the WT1 gene. It is characterized by the presence of congenital nephropathy (diffuse mesangial sclerosis), Wilms tumor, and intersex disorders.
C165258	Cellosaurus Disease Terminology	C2982	Depression	Depression		A melancholy feeling of sadness and despair.
C165258	Cellosaurus Disease Terminology	C2983	Dermatitis	Dermatitis	Inflammation of Skin \|\| Inflammation of the Skin \|\| Skin Inflammation	An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis.
C165258	Cellosaurus Disease Terminology	C4683	Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma Protuberans	Dermatofibrosarcoma	A low grade fibroblastic neoplasm presenting as a nodular cutaneous mass, most often on the trunk and the proximal extremities. The tumor diffusely infiltrates the dermis and the subcutaneous tissues. It is considered a locally aggressive neoplasm, which often recurs but rarely metastasizes.
C165258	Cellosaurus Disease Terminology	C26744	Dermatomyositis	Dermatomyositis		Inflammation of the skin and muscle.
C165258	Cellosaurus Disease Terminology	C4956	Desmoplastic/Nodular Medulloblastoma	Desmoplastic/Nodular Medulloblastoma	Desmoplastic Medulloblastoma \|\| Desmoplastic Nodular Medulloblastoma	A medulloblastoma characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network.
C165258	Cellosaurus Disease Terminology	C122814	Developmental and Epileptic Encephalopathy	Developmental and Epileptic Encephalopathy	Early Infantile Epileptic Encephalopathy	A neurological disorder characterized by recurring seizures presenting within the first three months of life and progressive cerebral dysfunction.
C165258	Cellosaurus Disease Terminology	C179866	Developmental and Epileptic Encephalopathy 1	Developmental and Epileptic Encephalopathy 1	Early Infantile Epileptic Encephalopathy 1	An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ARX gene, encoding homeobox protein ARX.
C165258	Cellosaurus Disease Terminology	C190869	Developmental and Epileptic Encephalopathy 107	Developmental and Epileptic Encephalopathy 107		An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the NAPB gene, encoding beta-soluble NSF attachment protein.
C165258	Cellosaurus Disease Terminology	C172096	Developmental and Epileptic Encephalopathy 11	Developmental and Epileptic Encephalopathy 11	Early Infantile Epileptic Encephalopathy 11	An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the SCN2A gene, encoding sodium channel protein type 2 subunit alpha.
C165258	Cellosaurus Disease Terminology	C188139	Developmental and Epileptic Encephalopathy 13	Developmental and Epileptic Encephalopathy 13	Encephalopathy, Early Infantile, 13	An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SCN8A gene, encoding sodium channel protein type 8 subunit alpha.
C165258	Cellosaurus Disease Terminology	C188141	Developmental and Epileptic Encephalopathy 14	Developmental and Epileptic Encephalopathy 14	Epileptic Encephalopathy, Early Infantile, 14	An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding potassium channel subfamily T member 1.
C165258	Cellosaurus Disease Terminology	C206098	Developmental and Epileptic Encephalopathy 18	Developmental and Epileptic Encephalopathy 18	EIEE18 \|\| Early Infantile Epileptic Encephalopathy 18	An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the KCNT1 gene, encoding SZT2 subunit of KICSTOR complex.
C165258	Cellosaurus Disease Terminology	C142802	Developmental and Epileptic Encephalopathy 19	Developmental and Epileptic Encephalopathy 19	Early Infantile Epileptic Encephalopathy 19	An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the GABRA1 gene, encoding gamma-aminobutyric acid receptor subunit alpha-1.
C165258	Cellosaurus Disease Terminology	C147070	Developmental and Epileptic Encephalopathy 2	Developmental and Epileptic Encephalopathy 2	CDKL5 Deficiency Disorder \|\| Cyclin-Dependent Kinase-Like 5 Deficiency Disorder \|\| Early Infantile Epileptic Encephalopathy 2	An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the CDKL5 gene, encoding cyclin-dependent kinase-like 5.
C165258	Cellosaurus Disease Terminology	C168597	Developmental and Epileptic Encephalopathy 25	Developmental and Epileptic Encephalopathy 25	Early Infantile Epileptic Encephalopathy 25 \|\| SLC13A5 Deficiency	An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the SLC13A5 gene, encoding solute carrier family 13 member 5.
C165258	Cellosaurus Disease Terminology	C175047	Developmental and Epileptic Encephalopathy 26	Developmental and Epileptic Encephalopathy 26	Early Infantile Epileptic Encephalopathy 26	An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNB1 gene, encoding potassium voltage-gated channel subfamily B member 1.
C165258	Cellosaurus Disease Terminology	C189273	Developmental and Epileptic Encephalopathy 28	Developmental and Epileptic Encephalopathy 28	Early Infantile Epileptic Encephalopathy 28	An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the WWOX gene, encoding WW domain-containing oxidoreductase.
C165258	Cellosaurus Disease Terminology	C185237	Developmental and Epileptic Encephalopathy 31	Developmental and Epileptic Encephalopathy 31	Early Infantile Epileptic Encephalopathy 31	An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the DNM1 gene, encoding dynamin-1.
C165258	Cellosaurus Disease Terminology	C155998	Developmental and Epileptic Encephalopathy 32	Developmental and Epileptic Encephalopathy 32	Early Infantile Epileptic Encephalopathy 32	An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the KCNA2 gene, encoding potassium voltage-gated channel subfamily A member 2.
C165258	Cellosaurus Disease Terminology	C142803	Developmental and Epileptic Encephalopathy 36	Developmental and Epileptic Encephalopathy 36	Early Infantile Epileptic Encephalopathy 36	An X-linked dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the ALG13 gene, encoding putative bifunctional UDP-N-acetylglucosamine transferase and deubiquitinase ALG13.
C165258	Cellosaurus Disease Terminology	C162472	Developmental and Epileptic Encephalopathy 4	Developmental and Epileptic Encephalopathy 4	Early Infantile Epileptic Encephalopathy 4	An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the STXBP1 gene, encoding syntaxin-binding protein 1.
C165258	Cellosaurus Disease Terminology	C188142	Developmental and Epileptic Encephalopathy 42	Developmental and Epileptic Encephalopathy 42	Epileptic Encephalopathy, Early Infantile, 42	An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.
C165258	Cellosaurus Disease Terminology	C202547	Developmental and Epileptic Encephalopathy 44	Developmental and Epileptic Encephalopathy 44	Early Infantile Epileptic Encephalopathy 44	An autosomal recessive subtype of developmental and epileptic encephalopathy caused by mutation(s) in the UBA5 gene, encoding ubiquitin-like modifier-activating enzyme 5.
C165258	Cellosaurus Disease Terminology	C177545	Developmental and Epileptic Encephalopathy 46	Developmental and Epileptic Encephalopathy 46	Early Infantile Epileptic Encephalopathy 46	An autosomal dominant condition caused by mutation(s) in the GRIN2D gene, encoding glutamate receptor ionotropic, NMDA 2D. It is characterized by developmental delay and intractable seizures.
C165258	Cellosaurus Disease Terminology	C201514	Developmental and Epileptic Encephalopathy 47	Developmental and Epileptic Encephalopathy 47	Epileptic Encephalopathy, Early Infantile, 47	An autosomal dominant subtype of developmental and epileptic encephalopathy, caused by mutation(s) in the FGF12 gene, encoding fibroblast growth factor 12.
C165258	Cellosaurus Disease Terminology	C190868	Developmental and Epileptic Encephalopathy 50	Developmental and Epileptic Encephalopathy 50	Congenital Disorder of Glycosylation Type Iz \|\| Early Infantile Epileptic Encephalopathy 50	An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the CAD gene, encoding CAD protein.
C165258	Cellosaurus Disease Terminology	C201518	Developmental and Epileptic Encephalopathy 65	Developmental and Epileptic Encephalopathy 65	Epileptic Encephalopathy, Early Infantile, 65	An autosomal dominant form of developmental and epileptic encephalopathy, caused by mutation(s) in the CYFIP2 gene, encoding cytoplasmic FMR1-interacting protein 2.
C165258	Cellosaurus Disease Terminology	C198576	Developmental And Epileptic Encephalopathy 66	Developmental And Epileptic Encephalopathy 66	Early Infantile Epileptic Encephalopathy 66	An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the PACS2 gene, encoding phosphofurin acidic cluster sorting protein 2.
C165258	Cellosaurus Disease Terminology	C147071	Developmental and Epileptic Encephalopathy 6A	Developmental and Epileptic Encephalopathy 6A	Dravet Syndrome \|\| Early Infantile Epileptic Encephalopathy 6	An autosomal dominant form of early infantile epileptic encephalopathy, caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha.
C165258	Cellosaurus Disease Terminology	C192087	Developmental and Epileptic Encephalopathy 7	Developmental and Epileptic Encephalopathy 7	Epileptic Encephalopathy, Early Infantile, 7	An autosomal dominant form of early infantile epileptic encephalopathy caused by mutation(s) in the KCNQ2 gene, encoding potassium voltage-gated channel subfamily KQT member 2.
C165258	Cellosaurus Disease Terminology	C179296	Developmental and Epileptic Encephalopathy 76	Developmental and Epileptic Encephalopathy 76	Early Infantile Epileptic Encephalopathy 76	An autosomal recessive form of early infantile epileptic encephalopathy, caused by mutation(s) in the ACTL6B gene, encoding actin-like protein 6B.
C165258	Cellosaurus Disease Terminology	C202548	Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects	Developmental and Epileptic Encephalopathy 85 with or without Midline Brain Defects	Early Infantile Epileptic Encephalopathy 85 with or without Midline Brain Defects	An X-linked dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the SMC1A gene, encoding structural maintenance of chromosomes protein 1A.
C165258	Cellosaurus Disease Terminology	C201590	Developmental and Epileptic Encephalopathy 9	Developmental and Epileptic Encephalopathy 9	Epileptic Encephalopathy, Early Infantile, 9	An X-linked subtype of developmental and epileptic encephalopathy caused by mutation(s) in the PCDH19 gene, encoding protocadherin-19.
C165258	Cellosaurus Disease Terminology	C172100	Developmental and Epileptic Encephalopathy 94	Developmental and Epileptic Encephalopathy 94	Childhood-Onset Epileptic Encephalopathy	An autosomal dominant condition caused by mutation(s) in the CHD2 gene, encoding chromodomain-helicase-DNA-binding protein 2. It is characterized by childhood-onset severe seizures and is associated with a poor prognosis.
C165258	Cellosaurus Disease Terminology	C206520	Developmental and Epileptic Encephalopathy 97	Developmental and Epileptic Encephalopathy 97		An autosomal dominant subtype of developmental and epileptic encephalopathy caused by mutation(s) in the CELF2 gene, encoding CUGBP Elav-like family member 2.
C165258	Cellosaurus Disease Terminology	C116942	Developmental Delay	Developmental Delay		Failure to meet, or late achievement of developmental milestones.
C165258	Cellosaurus Disease Terminology	C176223	Devil Facial Tumor Disease 1	Devil Facial Tumor Disease 1	Devil Facial Tumor 1	A subtype of devil facial tumor disease characterized by the absence of identifiable copies of chromosome 2 or any sex chromosomes, and the presence of only one copy of chromosome 6 and four atypical marker chromosomes with complex rearrangements. DFTD1 tumors also have a characteristic MHC profile.
C165258	Cellosaurus Disease Terminology	C176224	Devil Facial Tumor Disease 2	Devil Facial Tumor Disease 2	Devil Facial Tumor 2	A subtype of devil facial tumor that has karyotypic changes that differ from devil facial tumor disease 1 in that it does not have chromosomal losses nor the four atypical marker chromosomes displaying complex rearrangements. DFTD2 tumors have a different MHC class I genotype.
C165258	Cellosaurus Disease Terminology	C128804	D-Glyceric Aciduria	D-Glyceric Aciduria		An autosomal recessive genetic disorder caused by mutations in the GLYCTK gene, encoding glycerate kinase. The condition is characterized by excretion of D-glyceric acid in the urine. The phenotype varies from mild to severe, and may result in encephalopathy, mental retardation, microcephaly and early death.
C165258	Cellosaurus Disease Terminology	C2985	Diabetes Mellitus	Diabetes Mellitus	Diabetes	A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.
C165258	Cellosaurus Disease Terminology	C84417	Diabetic Nephropathy	Diabetic Nephropathy	Diabetic Kidney Disease	Progressive kidney disorder caused by vascular damage to the glomerular capillaries, in patients with diabetes mellitus. It is usually manifested with nephritic syndrome and glomerulosclerosis.
C165258	Cellosaurus Disease Terminology	C34538	Diabetic Retinopathy	Diabetic Retinopathy		A chronic, pathological complication associated with diabetes mellitus, where retinal damages are incurred due to microaneurysms in the vasculature of the retina, progressively leading to abnormal blood vessel growth, and swelling and leaking of fluid from blood vessels, resulting in vision loss or blindness.
C165258	Cellosaurus Disease Terminology	C183530	Diarrhea 5, with Tufting Enteropathy, Congenital	Diarrhea 5, with Tufting Enteropathy, Congenital	Diarrhea-5 with Congenital Tufting Enteropathy	A rare autosomal recessive condition caused by mutation(s) in the EPCAM gene, encoding epithelial cell adhesion molecule. It is characterized by intractable diarrhea in infancy, with intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum.
C165258	Cellosaurus Disease Terminology	C156311	Diastrophic Dysplasia	Diastrophic Dysplasia		An autosomal recessive condition caused by mutation(s) in the SLC26A2 gene, encoding sulfate transporter. It is characterized by cartilaginous and bony abnormalities, in particular very short arms and legs and the "hitchhiker" thumb, resulting from deformity of the first metacarpal.
C165258	Cellosaurus Disease Terminology	C129274	Diffuse Astrocytoma, IDH-Wildtype	Diffuse Astrocytoma, IDH-Wildtype		Diffuse astrocytoma lacking mutations in IDH1 or IDH2 genes.
C165258	Cellosaurus Disease Terminology	C94764	Diffuse Intrinsic Pontine Glioma	Diffuse Intrinsic Pontine Glioma		A glioma that grows diffusely in the pons. It usually affects children and has a poor prognosis.
C165258	Cellosaurus Disease Terminology	C8851	Diffuse Large B-Cell Lymphoma	Diffuse Large B-Cell Lymphoma		A non-Hodgkin lymphoma characterized by a diffuse proliferation of predominantly large neoplastic B lymphocytes. It is the most frequently seen type of non-Hodgkin lymphoma, representing 30%-40% of the cases. Morphologic variants include centroblastic lymphoma, immunoblastic lymphoma, and anaplastic lymphoma. Subtypes/entities include T-cell/histiocyte rich large B-cell lymphoma, primary diffuse large B-cell lymphoma of the central nervous system, plasmablastic lymphoma, primary cutaneous diffuse large B-cell lymphoma, leg type, and ALK-positive large B-cell lymphoma.
C165258	Cellosaurus Disease Terminology	C36081	Diffuse Large B-Cell Lymphoma Activated B-Cell Type	Diffuse Large B-Cell Lymphoma Activated B-Cell Type	Activated B-Cell-Like Diffuse Large B-Cell Lymphoma \|\| DLBCL Activated B-Cell Type \|\| Diffuse Large B-Cell Lymphoma Non-GC/ABC \|\| Diffuse Large B-Cell Lymphoma Non-Germinal Center/Activated B-Cell Type \|\| Diffuse Large B-Cell Lymphoma with an Activated B-Cell Expression Profile \|\| Non-GC/ABC DLBCL	A biologic subset of diffuse large B-cell lymphomas with a unique molecular signature or expression profile. It represents approximately 30% of diffuse large B-cell lymphomas, and is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. Morphologically, these lymphomas are either centroblastic or immunoblastic (ratio 2:1). Patients with this type of diffuse large B-cell lymphoma are reported to have a less favorable outcome compared to those with a germinal center B-cell expression profile, with a 5-year survival rate of 35% and a median survival of 2 years.
C165258	Cellosaurus Disease Terminology	C36080	Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type	Diffuse Large B-Cell Lymphoma Germinal Center B-Cell Type	DLBCL Germinal Center B-Cell Type \|\| Diffuse Large B-Cell Lymphoma with a Germinal Center B-Cell Expression Profile \|\| Germinal Center B-Cell-Like Diffuse Large B-Cell Lymphoma	A biologic subset of diffuse large B-cell lymphomas with a unique molecular signature or expression profile. It represents approximately 50% of diffuse large B-cell lymphomas, and is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. Morphologically, the vast majority of these lymphomas are centroblastic and a small minority are immunoblastic (ratio20:1). Patients with this type of diffuse large B-cell lymphoma have a more favorable outcome, with a 5-year survival rate of 60% and a median survival of 10 years.
C165258	Cellosaurus Disease Terminology	C202116	Diffuse Panbronchiolitis	Diffuse Panbronchiolitis		A clinico-pathologic syndrome primarily affecting the respiratory bronchioles with evidence of inflammation in all layers of the bronchiole. Sinusitis is often an accompanying feature.
C165258	Cellosaurus Disease Terminology	C3052	Digestive System Neoplasm	Digestive System Neoplasm	Digestive Neoplasm \|\| Digestive System Tumor \|\| Digestive Tumor \|\| GI Neoplasm \|\| GI System Neoplasm \|\| GI System Tumor \|\| GI Tumor \|\| Gastrointestinal Neoplasm \|\| Gastrointestinal System Neoplasm \|\| Gastrointestinal System Tumor \|\| Gastrointestinal Tumor \|\| Neoplasm of Digestive System \|\| Neoplasm of GI System \|\| Neoplasm of Gastrointestinal System \|\| Neoplasm of the Digestive System \|\| Neoplasm of the GI System \|\| Neoplasm of the Gastrointestinal System \|\| Tumor of Digestive System \|\| Tumor of GI System \|\| Tumor of Gastrointestinal System \|\| Tumor of the Digestive System \|\| Tumor of the GI System \|\| Tumor of the Gastrointestinal System	A benign or malignant neoplasm involving any part of the digestive system.
C165258	Cellosaurus Disease Terminology	C84673	Dilated Cardiomyopathy	Dilated Cardiomyopathy		Cardiomyopathy which is characterized by dilation and contractile dysfunction of the left and right ventricles. It may be idiopathic, or it may result from a myocardial infarction, myocardial infection, or alcohol abuse. It is a cause of congestive heart failure.
C165258	Cellosaurus Disease Terminology	C165596	Dilated Cardiomyopathy-1A	Dilated Cardiomyopathy-1A	CMD1A	An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the LMNA gene, encoding lamin-A and lamin C.
C165258	Cellosaurus Disease Terminology	C198599	Dilated Cardiomyopathy-1D	Dilated Cardiomyopathy-1D		An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the TNNT2 gene, encoding troponin T, cardiac muscle.
C165258	Cellosaurus Disease Terminology	C174435	Dilated Cardiomyopathy-1DD	Dilated Cardiomyopathy-1DD		An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the RBM20 gene, encoding RNA-binding protein 20.
C165258	Cellosaurus Disease Terminology	C182078	Dilated Cardiomyopathy-1G	Dilated Cardiomyopathy-1G		A subtype of dilated cardiomyopathy caused by mutation(s) in the TTN gene, encoding titin.
C165258	Cellosaurus Disease Terminology	C192082	Dilated Cardiomyopathy-1HH	Dilated Cardiomyopathy-1HH		An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the BAG3 gene, encoding BAG family molecular chaperone regulator 3.
C165258	Cellosaurus Disease Terminology	C206099	Dilated Cardiomyopathy-1II	Dilated Cardiomyopathy-1II		An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the CRYAB gene, encoding alpha-crystallin B chain.
C165258	Cellosaurus Disease Terminology	C173625	Dilated Cardiomyopathy-1P	Dilated Cardiomyopathy-1P		An autosomal dominant subtype of dilated cardiomyopathy caused by mutation(s) in the PLN gene, encoding cardiac phospholamban.
C165258	Cellosaurus Disease Terminology	C187983	Dilated Cardiomyopathy-1W	Dilated Cardiomyopathy-1W		An genetic condition that is a subtype of dilated cardiomyopathy caused by mutation(s) in the VCL gene, encoding vinculin.
C165258	Cellosaurus Disease Terminology	C186785	Dilated Cardiomyopathy-2C	Dilated Cardiomyopathy-2C		An autosomal recessive subtype of dilated cardiomyopathy caused by mutation(s) in the PPCS gene, encoding phosphopantothenate--cysteine ligase.
C165258	Cellosaurus Disease Terminology	C174217	Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Malouf Syndrome \|\| Najjar Syndrome	An autosomal dominant condition caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. It is characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism.
C165258	Cellosaurus Disease Terminology	C132826	Distal Hereditary Motor Neuronopathy Type I	Distal Hereditary Motor Neuronopathy Type I	Charcot-Marie-Tooth Disease, Spinal, I \|\| DHMN1 \|\| Distal HMN I \|\| HMN1 \|\| Spinal CMT I	An autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration.
C165258	Cellosaurus Disease Terminology	C206521	Distal Myopathy-5	Distal Myopathy-5		An autosomal dominant condition caused by mutation(s) in the ADSS1 gene, encoding adenylosuccinate synthetase isozyme 1. It is characterized by adolescent onset of distal muscular weakness primarily affecting the lower limbs.
C165258	Cellosaurus Disease Terminology	C185241	Distal Trisomy 2p	Distal Trisomy 2p		A chromosomal anomaly characterized by the partial duplication of the short arm of chromosome 2. The phenotype is highly variable but principally characterized by growth failure, global developmental delay, facial dysmorphism and ocular anomalies.
C165258	Cellosaurus Disease Terminology	C122658	DNA Ligase I Deficiency	DNA Ligase I Deficiency		A very rare genetic syndrome characterized by reduced replicative DNA ligase I. It results in immunodeficiency and cellular hypersensitivity to DNA-damaging agents.
C165258	Cellosaurus Disease Terminology	C84676	Donohue Syndrome	Donohue Syndrome	Leprechaunism	A rare autosomal recessive genetic disorder caused by mutations in the insulin receptor gene. Signs and symptoms include a characteristic facial appearance (protuberant and low-set ears, thick lips, and flaring nostrils), intrauterine growth retardation, insulin resistance, and enlarged genitalia.
C165258	Cellosaurus Disease Terminology	C129866	Dopamine Transporter Deficiency Syndrome	Dopamine Transporter Deficiency Syndrome	Parkinsonism-Dystonia, Infantile	An autosomal recessive condition caused by mutation(s) in the SLC6A3 gene, encoding sodium-dependent dopamine transporter. It is characterized by Parkinsonian features and has an onset in early infancy.
C165258	Cellosaurus Disease Terminology	C116719	Dopa-Responsive Dystonia	Dopa-Responsive Dystonia	Autosomal Dominant Dopa-Responsive Dystonia \|\| Autosomal Dominant Segawa Syndrome \|\| DYT5 Dystonia \|\| Dopa-Responsive Dystonia, Autosomal Dominant \|\| Segawa's Disease	A genetic disorder in females that presents in early childhood and is responsive to dopamine. It is characterized by clubfeet and Parkinsonian symptoms that may progress from lower to upper extremities witha diurnal pattern, and involuntary muscle contractions and other uncontrolled movements in the lower limbs that worsen with excercise and improve with rest.
C165258	Cellosaurus Disease Terminology	C2993	Down Syndrome	Down Syndrome	Trisomy 21 (Down Syndrome) \|\| Trisomy 21 Syndrome	A chromosomal dysgenesis syndrome resulting from a triplication or translocation of chromosome 21. Down syndrome occurs in approximately 1:700 live births. Abnormalities are variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set ears with prominent antihelix, fissured and thickened tongue, laxness of joint ligaments, pelvic dysplasia, broad hands and feet, stubby fingers, transverse palmar crease, lenticular opacities and heart disease. Patients with Down syndrome have an estimated 10 to 30-fold increased risk for leukemia; most have symptoms of Alzheimer's disease by age 40. Also known as trisomy 21 syndrome.
C165258	Cellosaurus Disease Terminology	C116573	Dravet Syndrome	Dravet Syndrome	Severe Myoclonic Epilepsy of Infancy	A severe form of epilepsy that presents in early childhood and is characterized by frequent, prolonged febrile or myoclonic seizures that may progress to status epilepticus and poor development of language, motor, and socialization skills.
C165258	Cellosaurus Disease Terminology	C121946	Drug- and Toxin-Induced Pulmonary Arterial Hypertension	Drug- and Toxin-Induced Pulmonary Arterial Hypertension		A rare, progressive disorder characterized by abnormally high blood pressure in the pulmonary artery caused by obstruction and obliteration of the small pulmonary arteries due to drugs or toxins. The stimulant appetite suppressant aminorex fumarate and other stimulant anorectics such as the serotonin reuptake inhibitor dexfenfluramine, as well as other agents, including illegal substances have been reported as causative agents.
C165258	Cellosaurus Disease Terminology	C84427	Drug Induced Liver Injury	Drug Induced Liver Injury		Damage to the liver tissue due to drug overdose.
C165258	Cellosaurus Disease Terminology	C125591	Dubowitz Syndrome	Dubowitz Syndrome		A rare, autosomal recessive inherited syndrome characterized by microcephaly, growth retardation, and a small, round, triangular shaped face with a pointed, receding chin, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids.
C165258	Cellosaurus Disease Terminology	C75482	Duchenne Muscular Dystrophy	Duchenne Muscular Dystrophy		An X-linked inherited disorder caused by mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy.
C165258	Cellosaurus Disease Terminology	C134769	Duck Neoplasm	Duck Neoplasm		A neoplasm that occurs in a duck.
C165258	Cellosaurus Disease Terminology	C7889	Duodenal Adenocarcinoma	Duodenal Adenocarcinoma	Adenocarcinoma of Duodenum \|\| Adenocarcinoma of the Duodenum	An adenocarcinoma that arises from the duodenum. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.
C165258	Cellosaurus Disease Terminology	C135080	Duodenal Neuroendocrine Tumor	Duodenal Neuroendocrine Tumor	Duodenal Well Differentiated Neuroendocrine Neoplasm \|\| Duodenal Well-Differentiated Neuroendocrine Neoplasm	A well-differentiated, low-, intermediate-, or high-grade neoplasm with neuroendocrine differentiation that arises from the duodenum.
C165258	Cellosaurus Disease Terminology	C124844	Dyggve-Melchior-Clausen Syndrome	Dyggve-Melchior-Clausen Syndrome	DMC \|\| Dyggve-Melchior-Clausen Disease	A rare, autosomal recessive inherited syndrome caused by mutations in the DYM gene. It is characterized by abnormal skeletal development, microcephaly, and intellectual disability.
C165258	Cellosaurus Disease Terminology	C118435	Dyschromatosis Symmetrica Hereditaria	Dyschromatosis Symmetrica Hereditaria	DSH1 \|\| Dyschromatosis Symmetrica Hereditaria 1 \|\| RAD \|\| Reticulate Acropigmentation of Dohi \|\| Symmetric Dyschromatosis of the Extremities	A rare, autosomal dominant inherited disorder caused by heterozygous mutation in the DSRAD gene. Most cases have been reported from countries in East Asia. It is characterized by the presence of hyperpigmented and hypopigmented macules on the dorsal aspect of the extremities and face.
C165258	Cellosaurus Disease Terminology	C173131	Dyschromatosis Universalis Hereditaria	Dyschromatosis Universalis Hereditaria		A genetically heterogenous condition, usually inherited in an autosomal dominant fashion, characterized by hypopigmented and hyperpigmented macules involving the entire body surface.
C165258	Cellosaurus Disease Terminology	C111802	Dyskeratosis Congenita	Dyskeratosis Congenita	Zinsser-Engman-Cole Syndrome	A rare genetic disorder characterized by nail dystrophy, reticulated skin pigmentation especially on the neck and chest, and oral leukoplakia. In about half the cases mutations in the TERT, TERC, DKC1, or TINF2 genes are identified. Patients are at an increased risk of developing bone marrow failure, myelodysplastic syndrome, leukemia, or cancer, especially in the head and neck region.
C165258	Cellosaurus Disease Terminology	C202047	Dyskinesia with Orofacial Involvement	Dyskinesia with Orofacial Involvement		A genetic condition associated with mutation(s) in the ADCY5 gene, encoding adenylate cyclase 5. It is characterized by abnormal involuntary movements with orofacial involvement.
C165258	Cellosaurus Disease Terminology	C34563	Dystonia	Dystonia		A movement disorder characterized by sustained or intermittent muscle contractions, resulting in abnormal movements and/or postures.
C165258	Cellosaurus Disease Terminology	C201596	Dystonia 11, Myoclonic	Dystonia 11, Myoclonic	Myoclonic Dystonia 11 \|\| Myoclonus-Dystonia Syndrome	An autosomal dominant condition caused by mutation(s) in the SGCE gene, encoding epsilon-sarcoglycan. It is characterized by myoclonus of the proximal muscles and dystonia.
C165258	Cellosaurus Disease Terminology	C157577	Dystonia 12	Dystonia 12	Rapid-Onset Dystonia-Parkinsonism	An autosomal dominant condition caused by mutation(s) in the ATP1A3 gene, encoding sodium/potassium-transporting ATPase subunit alpha-3. It is characterized by abrupt onset of dystonia and parkinsonism in young adulthood, often triggered by physical or psychological stress.
C165258	Cellosaurus Disease Terminology	C168729	Dystonia 16	Dystonia 16		An extremely rare autosomal recessive dystonia-parkinsonism condition caused by mutation(s) in the PRKRA gene encoding interferon-inducible double-stranded RNA-dependent protein kinase activator A.
C165258	Cellosaurus Disease Terminology	C84679	Dystrophia Myotonica 1	Dystrophia Myotonica 1		A rare autosomal dominant disorder caused by mutations in the DMPK gene. It is characterized by myotonia, muscular dystrophy, hypogonadism, heart conduction defects and cataracts.
C165258	Cellosaurus Disease Terminology	C84680	Dystrophia Myotonica 2	Dystrophia Myotonica 2	Proximal Myotonic Myopathy	A rare autosomal dominant disorder caused by mutations in the CNBP gene. It is characterized by muscle pain, fatigue, and weakness of the proximal muscles of the lower extremities.
C165258	Cellosaurus Disease Terminology	C130043	Early T Acute Lymphoblastic Leukemia	Early T Precursor Acute Lymphoblastic Leukemia	Early T Acute Lymphoblastic Leukemia \|\| Early T-Acute Lymphoblastic Leukemia \|\| Early T-Cell Precursor Acute Lymphoblastic Leukemia \|\| Early T-Cell Precursor Lymphoblastic Leukemia \|\| Early T-Precursor Acute Lymphoblastic Leukemia	T acute lymphoblastic leukemia in which the blasts have unique immunophenotypic and genetic characteristics suggesting only limited early T-cell differentiation.
C165258	Cellosaurus Disease Terminology	C202602	Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum	Early-Onset Progressive Encephalopathy with Brain Atrophy and Thin Corpus Callosum	Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	An autosomal recessive condition caused by mutation(s) in the TBCD gene, encoding tubulin-specific chaperone D. It is characterized by encephalopathy, cerebellar and cerebral atrophy, and a thin corpus callosum.
C165258	Cellosaurus Disease Terminology	C206115	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2	NAD(P)HX Dehydratase Deficiency	An autosomal recessive condition caused by mutation(s) in the NAXD gene, encoding ATP-dependent (S)-NAD(P)H-hydrate dehydratase.
C165258	Cellosaurus Disease Terminology	C84681	Ebstein Anomaly	Ebstein Anomaly	Ebstein's Anomaly	A rare congenital heart malformation characterized by apical displacement of the opening of the tricuspid valve. The defect involves both the right ventricle and the tricuspid valve, and can lead to cardiomyopathy and tachyarrhythmias.
C165258	Cellosaurus Disease Terminology	C27694	EBV-Related Burkitt Lymphoma	EBV-Related Burkitt Lymphoma	EBV Related Burkitt's Lymphoma \|\| EBV-Associated Burkitt Lymphoma \|\| EBV-Related Burkitt's Lymphoma \|\| Epstein-Barr Virus-Related Burkitt Lymphoma \|\| Epstein-Barr Virus-Related Burkitt's Lymphoma	Burkitt lymphoma that is caused by Epstein-Barr virus infection.
C165258	Cellosaurus Disease Terminology	C27696	EBV-Related Post-Transplant Lymphoproliferative Disorder	EBV-Related Post-Transplant Lymphoproliferative Disorder	EBV-Associated Post-Transplant Lymphoproliferative Disorder \|\| EBV-Related PTLD \|\| Epstein-Barr Virus-Associated Post-Transplant Lymphoproliferative Disorder \|\| Epstein-Barr Virus-Related Post-Transplant Lymphoproliferative Disorder	A lymphoproliferative disorder that develops following organ transplantation and is associated with Epstein-Barr virus infection.
C165258	Cellosaurus Disease Terminology	C118844	Ectodermal Dysplasia and Immunodeficiency	Ectodermal Dysplasia and Immunodeficiency	Anhidrotic Ectodermal Dysplasia with Immune Deficiency \|\| Hypohidrotic Ectodermal Dysplasia with Immune Deficiency	A rare disorder caused by mutations either in the IKBKG gene resulting in an X-linked recessive inheritance pattern or in the NFKBIA gene resulting in an autosomal dominant inheritance pattern. It is characterized by abnormal development of ectodermal tissues including the skin, hair, teeth, and sweat glands and immune system deficiency. It results in dry and wrinkled skin, sparse scalp and body hair, missing teeth, and reduced ability to sweat. Patients have abnormally low levels of antibodies causing inability to fight infections.
C165258	Cellosaurus Disease Terminology	C125484	Ectopia Lentis	Ectopia Lentis		Partial or complete displacement of the crystalline lens from its normal position in the eye.
C165258	Cellosaurus Disease Terminology	C148261	Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome	Ectrodactyly-Ectodermal Dysplasia-Cleft Syndrome	EEC Syndrome	A rare form of ectodermal dysplasia, inherited in an autosomal dominant fashion, manifesting with varying degrees of severity, ectrodactyly and cleft lip/palate.
C165258	Cellosaurus Disease Terminology	C3001	Eczema	Eczema	Atopic Dermatitis \|\| Eczematous Dermatitis	A form of dermatitis characterized by red, itchy, scaly, or crusty patches that can be chronic or intermittent.
C165258	Cellosaurus Disease Terminology	C34568	Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome		An inherited connective tissue disorder characterized by loose and fragile skin and joint hypermobility.
C165258	Cellosaurus Disease Terminology	C168975	Ehlers-Danlos Syndrome, Musculocontractural Type 1	Ehlers-Danlos Syndrome, Musculocontractural Type 1		An autosomal recessive form of Ehlers-Danlos syndrome caused by mutation(s) in the CHST14 gene, encoding carbohydrate sulfotransferase 14.
C165258	Cellosaurus Disease Terminology	C125696	Ehlers-Danlos Syndrome, Type I	Ehlers-Danlos Syndrome, Type I		A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A1 gene, encoding collagen alpha-1(V) chain.
C165258	Cellosaurus Disease Terminology	C125697	Ehlers-Danlos Syndrome, Type II	Ehlers-Danlos Syndrome, Type II		A classic type of Ehlers-Danlos syndrome resulting from autosomal dominant mutation(s) in the COL5A2 gene, encoding collagen alpha-2(V) chain.
C165258	Cellosaurus Disease Terminology	C125698	Ehlers-Danlos Syndrome, Type III	Ehlers-Danlos Syndrome, Type III		Ehlers-Danlos syndrome, type III is the hypermobility type Ehlers-Danlos syndrome. In most cases, the cause is unknown. Mutations in the TNXB gene have been found in a very small percentage of cases.
C165258	Cellosaurus Disease Terminology	C125699	Ehlers-Danlos Syndrome, Type IV	Ehlers-Danlos Syndrome, Type IV		Ehlers-Danlos syndrome, type IV is the vascular type Ehlers-Danlos syndrome. It results from mutations in the COL3A1 gene.
C165258	Cellosaurus Disease Terminology	C141423	Ehlers-Danlos Syndrome, Type V	Ehlers-Danlos Syndrome, Type V		An X-linked condition characterized by joint hyperextensibility, mild skin hyperelastisity, and abnormal scarring. The molecular basis for this condition has not been fully elucidated.
C165258	Cellosaurus Disease Terminology	C125700	Ehlers-Danlos Syndrome, Type VI	Ehlers-Danlos Syndrome, Type VI	Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Ehlers-Danlos syndrome, type VI is the kyphoscoliosis type Ehlers-Danlos syndrome. It results from mutations in the PLOD1 gene.
C165258	Cellosaurus Disease Terminology	C125701	Ehlers-Danlos Syndrome, Type VII	Ehlers-Danlos Syndrome, Type VII		Ehlers-Danlos syndrome, type VII includes the arthrochalasia type (types VIIA and VIIB) Ehlers-Danlos syndrome, and the dermatosparaxis type (type VIIC) Ehlers-Danlos syndrome. The arthrochalasia type Ehlers-Danlos syndrome is caused by mutations in the COL1A1 gene or the COL1A2 gene. The dermatosparaxis type Ehlers-Danlos syndrome is caused by mutations in the ADAMTS2 gene.
C165258	Cellosaurus Disease Terminology	C84390	Eisenmenger Syndrome	Eisenmenger Syndrome	Eisenmenger's Syndrome	A syndrome characterized by the reversal of a septal defect-associated left-to-right shunt due to the resulting secondary pulmonary hypertension. The presence of the pulmonary hypertension causes increased pressure in the right heart chambers resulting in the reversal of the shunt into a right-to-left shunt. Signs and symptoms include cyanosis, pulmonary hypertension, heart failure, and high red blood cell count.
C165258	Cellosaurus Disease Terminology	C84684	Ellis-Van Creveld Syndrome	Ellis-Van Creveld Syndrome	Chondroectodermal Dysplasia	A rare autosomal recessive syndrome caused by mutations in the EVC gene. It is characterized by dwarfism, small chest, ectodermal dysplasia, and postaxial polydactyly. There is an increased frequency of congenital heart malformations.
C165258	Cellosaurus Disease Terminology	C3752	Embryonal Carcinoma	Embryonal Carcinoma		A non-seminomatous malignant germ cell tumor characterized by the presence of large germ cells with abundant cytoplasm resembling epithelial cells, geographic necrosis, high mitotic activity, and pseudoglandular and pseudopapillary structures formation. It can arise from the testis, ovary, and extragonadal sites (central nervous system and mediastinum).
C165258	Cellosaurus Disease Terminology	C8971	Embryonal Rhabdomyosarcoma	Embryonal Rhabdomyosarcoma		A poorly circumscribed morphologic variant of rhabdomyosarcoma. It is characterized by the presence of primitive skeletal muscle differentiation in any stage of myogenesis.
C165258	Cellosaurus Disease Terminology	C84685	Emery-Dreifuss Muscular Dystrophy	Emery-Dreifuss Muscular Dystrophy	EDMD	An X-linked or autosomal dominant inherited muscular dystrophy. It is characterized by slowly progressive muscle weakness, atrial conduction defects, cardiomyopathy, and early contractures of the elbow, ankle and neck.
C165258	Cellosaurus Disease Terminology	C168730	Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Emery-Dreifuss Muscular Dystrophy 1, X-Linked	EDMD1	Emery-Dreifuss muscular dystrophy inherited in an X-linked recessive pattern and caused by mutations in the EMD gene, encoding emerin.
C165258	Cellosaurus Disease Terminology	C126745	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant		Emery-Dreifuss muscular dystrophy inherited in an autosomal dominant pattern and caused by mutations in the LMNA gene.
C165258	Cellosaurus Disease Terminology	C3008	Enchondromatosis	Enchondromatosis	Dyschondroplasia \|\| Ollier Disease \|\| Ollier's Disease	A rare benign disorder characterized by lack of normal endochondral ossification, and the growth of multiple enchondromas. It primarily affects the bones of the hand, in children and young adults. Extent of the disease varies; in some cases, neoplastic involvement may be widespread causing considerable deformity.
C165258	Cellosaurus Disease Terminology	C35874	Endemic African Kaposi Sarcoma	Endemic African Kaposi Sarcoma	Endemic African Kaposi's Sarcoma	A Kaposi sarcoma that occurs in adults and children in Equatorial Africa.
C165258	Cellosaurus Disease Terminology	C7359	Endometrial Adenocarcinoma	Endometrial Adenocarcinoma	Adenocarcinoma of Endometrium \|\| Adenocarcinoma of the Endometrium \|\| Endometrial Adenocarcinoma, Not Otherwise Specified	An adenocarcinoma arising from the uterine body cavity. This is the most frequent malignant tumor affecting the uterine body, and is linked to estrogen therapy. Most patients present with uterine bleeding and are over age 40 at the time of diagnosis. The prognosis depends on the stage of the tumor, the depth of the uterine wall invasion, and the histologic subtype. Endometrioid adenocarcinoma is the most frequently seen morphologic variant of endometrial adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C114656	Endometrial Adenosquamous Carcinoma	Endometrial Adenosquamous Carcinoma		A rare endometrial carcinoma characterized by the presence of both malignant glandular and malignant squamous cellular components.
C165258	Cellosaurus Disease Terminology	C7558	Endometrial Carcinoma	Endometrial Carcinoma	Carcinoma of Endometrium \|\| Carcinoma of the Endometrium	A malignant tumor arising from the epithelium that lines the cavity of the uterine body. The vast majority of endometrial carcinomas are adenocarcinomas; squamous cell and adenosquamous carcinomas represent a minority of the cases. Endometrioid adenocarcinoma is the most frequently seen variant of endometrial adenocarcinoma. Uterine bleeding is an initial clinical sign. The prognosis depends on the stage of the tumor, the depth of myometrial wall invasion, and the degree of differentiation.
C165258	Cellosaurus Disease Terminology	C8028	Endometrial Clear Cell Adenocarcinoma	Endometrial Clear Cell Adenocarcinoma	Clear Cell Carcinoma of Endometrium \|\| Clear Cell Carcinoma of the Endometrium	A high-grade endometrial adenocarcinoma characterized by the presence of large neoplastic cells that display at least focal cytoplasmic clearing. The neoplastic cells form papillary, glandular, or sheet-like structures.
C165258	Cellosaurus Disease Terminology	C6290	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation	Adenocanthoma of Endometrium \|\| Endometrial Endometrioid Adenocarcinoma with Squamous Differentiation	An endometrioid adenocarcinoma of the endometrium showing squamous differentiation.
C165258	Cellosaurus Disease Terminology	C27838	Endometrial Serous Adenocarcinoma	Endometrial Serous Adenocarcinoma	Uterine Corpus Serous Adenocarcinoma \|\| Uterine Papillary Serous Carcinoma \|\| Uterine Serous Adenocarcinoma \|\| Uterine Serous Carcinoma \|\| Uterine Serous Papillary Adenocarcinoma	A high-grade, aggressive adenocarcinoma arising from the endometrium. It is characterized by the presence of complex papillary patterns with cellular budding. Atypical mitoses, necrosis, and psammoma bodies may be present. It is classified as type II endometrial carcinoma and it is not associated with endometrial hyperplasia. It tends to invade deeply into the myometrium and spreads into the lymphatic vessels. Patients frequently present with spread of the tumor beyond the uterus at the time of diagnosis. The prognosis is usually poor.
C165258	Cellosaurus Disease Terminology	C40156	Endometrial Undifferentiated Carcinoma	Endometrial Undifferentiated Carcinoma	Undifferentiated Endometrial Carcinoma	A primary carcinoma of the endometrium characterized by the presence of malignant cells that lack evidence of differentiation.
C165258	Cellosaurus Disease Terminology	C8973	Endometrioid Stromal Sarcoma	Endometrioid Stromal Sarcoma	Endometrial Stromal Sarcoma	A malignant mesenchymal neoplasm that affects the uterine corpus, and rarely, the ovaries, cervix, and vagina. In the uterine corpus it is classified as low grade or high grade endometrial stromal sarcoma. In the remainder of the anatomic sites it is classified as low grade endometrioid stromal sarcoma.
C165258	Cellosaurus Disease Terminology	C3014	Endometriosis	Endometriosis		The growth of functional endometrial tissue in anatomic sites outside the uterine body. It most often occurs in the pelvic organs.
C165258	Cellosaurus Disease Terminology	C112116	Eosinophilic Fasciitis	Eosinophilic Fasciitis		Inflammation and induration of the fascia related to an accumulation of white blood cells, including eosinophils.
C165258	Cellosaurus Disease Terminology	C35330	Eosinophilic Gastroenteritis	Eosinophilic Gastroenteritis		Gastroenteritis that is characterized by eosinophilic infiltration.
C165258	Cellosaurus Disease Terminology	C3016	Eosinophilic Granuloma	Eosinophilic Granuloma	Eosinophilic Xanthomatous Granuloma	A clinical variant of Langerhans cell histiocytosis characterized by unifocal involvement of a bone (most often), skin, or lung. Patients are usually older children or adults usually presenting with a lytic bone lesion. The etiology is unknown. Morphologically, eosinophilic granuloma is characterized by the presence of Langerhans cells in a characteristic milieu which includes histiocytes, eosinophils, neutrophils, and small, mature lymphocytes.
C165258	Cellosaurus Disease Terminology	C34481	Eosinophilic Granulomatosis with Polyangiitis	Eosinophilic Granulomatosis with Polyangiitis	Allergic Granulomatosis \|\| Allergic Granulomatous Angiitis \|\| Churg-Strauss Syndrome	An autoimmune necrotizing vasculitis with the formation of granulomas. It is a pulmonary and systemic vasculitis associated with eosinophilia.
C165258	Cellosaurus Disease Terminology	C3017	Ependymoma	Ependymoma	WHO Grade 2 Ependymal Neoplasm \|\| WHO Grade 2 Ependymal Tumor \|\| WHO Grade II Ependymal Neoplasm \|\| WHO Grade II Ependymal Tumor	A WHO grade 2, slow growing tumor of children and young adults, usually located intraventricularly. It is the most common ependymal neoplasm. It often causes clinical symptoms by blocking cerebrospinal fluid pathways. Key histological features include perivascular pseudorosettes and ependymal rosettes. (WHO)
C165258	Cellosaurus Disease Terminology	C126877	Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	Lewandowsky-Lutz Dysplasia	An extremely rare skin disorder usually inherited in an autosomal recessive pattern and caused by mutation(s) in the TMC6 or TMC8 gene, encoding transmembrane channel-like protein 6 and transmembrane channel-like protein 8, respectively. It is characterized by chronic human papillomavirus infection. Patients develop papillomatous wart-like lesions and pigmented plaques on the skin. It predisposes to cutaneous carcinomas, especially in situ and invasive squamous cell carcinomas.
C165258	Cellosaurus Disease Terminology	C67383	Epidermolysis Bullosa	Epidermolysis Bullosa		An autosomal recessive inherited skin disorder caused by mutations in the genes encoding keratins 5 and 14, collagen VII or laminin 5. It is characterized by skin fragility and the formation of blisters. The blisters may become large and ulcerated, resulting in skin infections and loss of body fluids.
C165258	Cellosaurus Disease Terminology	C84691	Epidermolysis Bullosa Dystrophica	Epidermolysis Bullosa Dystrophica		A genetic skin disorder caused by mutations in the type VII collagen gene (COL7A1). It is characterized by the formation of blisters and scarring in the skin and mucous membranes.
C165258	Cellosaurus Disease Terminology	C205633	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	Epidermolysis Bullosa Dystrophica, Autosomal Dominant	Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa	An autosomal dominant allelic variant of epidermolysis bullosa dystrophica caused by heterozygous mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.
C165258	Cellosaurus Disease Terminology	C156446	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa	An autosomal recessive allelic variant of epidermolysis bullosa dystrophica caused by mutation(s) in the COL7A1 gene, encoding collagen alpha-1(VII) chain.
C165258	Cellosaurus Disease Terminology	C84692	Epidermolysis Bullosa Simplex	Epidermolysis Bullosa Simplex		A genetic skin disorder caused by mutations in the KRT5 and KRT14 genes. It is characterized by the formation of blisters and increased fragility of the skin.
C165258	Cellosaurus Disease Terminology	C162474	Epidermolysis Bullosa, Junctional, with Pyloric Atresia	Epidermolysis Bullosa, Junctional, with Pyloric Atresia	Carmi Syndrome	An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia.
C165258	Cellosaurus Disease Terminology	C62569	Epidermolytic Ichthyosis	Epidermolytic Ichthyosis	Bullous Congenital Ichthyosiform Erythroderma \|\| Epidermolytic Hyperkeratosis	An autosomal dominant inherited skin disorder caused by mutations in the KRT1 and KRT10 genes. It is manifested at birth and is characterized by generalized erythema, skin blisters and skin fragility.
C165258	Cellosaurus Disease Terminology	C168598	Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation	Epilepsy, Focal, with Speech Disorder and with or without Mental Retardation	Aphasia, Acquired, with Epilepsy \|\| FESD with or without Mental Retardation	An autosomal dominant condition caused by mutation(s) in the GRIN2A gene, encoding glutamate receptor ionotropic NMDA 2A. It is characterized by childhood-onset seizures affecting the temporal lobe or rolandic area of the brain, with a variable phenotype. It often affects speech and language.
C165258	Cellosaurus Disease Terminology	C142804	Epilepsy, Progressive Myoclonic 7	Epilepsy, Progressive Myoclonic 7	EPM7	An autosomal dominant form of early progressive myoclonic epilepsy, caused by mutation(s) in the KCNC1 gene, encoding potassium voltage-gated channel subfamily C member 1.
C165258	Cellosaurus Disease Terminology	C202603	Episodic Ataxia Type 2	Episodic Ataxia Type 2		An autosomal dominant condition caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is characterized by paroxysms of vertigo, visual disturbance, dysarthria, and ataxia.
C165258	Cellosaurus Disease Terminology	C178413	Episodic Kinesigenic Dyskinesia-1	Episodic Kinesigenic Dyskinesia-1	Dystonia 10 \|\| PKD Dystonia \|\| Paroxysmal Kinesigenic Dyskinesia	An autosomal dominant condition caused by mutation(s) in the PRRT2 gene, encoding proline-rich transmembrane protein 2. It is characterized by dyskinesia triggered by sudden movement. It shares features with infantile convulsions and paroxysmal choreoathetosis, familial. It is an allelic disorder.
C165258	Cellosaurus Disease Terminology	C3800	Epithelioid Hemangioendothelioma	Epithelioid Hemangioendothelioma	Epithelioid Angioendothelioma \|\| Epithelioid Angiosarcoma	A low-grade malignant blood vessel neoplasm. It is characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma.
C165258	Cellosaurus Disease Terminology	C3714	Epithelioid Sarcoma	Epithelioid Sarcoma	Epithelioid Cell Sarcoma	An aggressive malignant neoplasm of uncertain differentiation, characterized by the presence of epithelioid cells forming nodular patterns. The nodules often undergo central necrosis, resulting in a pseudogranulomatous growth pattern. It usually occurs in young adults. The most common sites of involvement are the extremities (distal-type epithelioid sarcoma), and less frequently the pelvis, perineum, and genital organs (proximal-type epithelioid sarcoma).
C165258	Cellosaurus Disease Terminology	C7152	Erythroleukemia	Erythroleukemia	Erythroleukemia (Erythroid/Myeloid) \|\| Erythroleukemia, Erythroid/Myeloid	Acute erythroid leukemia characterised by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow.
C165258	Cellosaurus Disease Terminology	C34593	Erythromelalgia	Erythromelalgia		A rare disorder characterized by periodic inflammation and blockage of the vessels of the extremities, resulting in skin redness, swelling, and burning pain in the affected sites. It may manifest as a primary disorder caused by mutations of the SCN9A gene or as a secondary disorder due to hematologic disorders or medication side effects.
C165258	Cellosaurus Disease Terminology	C84697	Erythropoietic Porphyria	Erythropoietic Porphyria		A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme uroporphyrinogen III cosynthetase. It results in cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas.
C165258	Cellosaurus Disease Terminology	C84698	Erythropoietic Protoporphyria	Erythropoietic Protoporphyria	Protoporphyria, Erythropoietic	A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly.
C165258	Cellosaurus Disease Terminology	C4025	Esophageal Adenocarcinoma	Esophageal Adenocarcinoma	Adenocarcinoma of Esophagus \|\| Adenocarcinoma of the Esophagus \|\| Esophagus Adenocarcinoma	A malignant tumor with glandular differentiation arising predominantly from Barrett mucosa in the lower third of the esophagus. Rare examples of esophageal adenocarcinoma deriving from ectopic gastric mucosa in the upper esophagus have also been reported. Grossly, esophageal adenocarcinomas are similar to esophageal squamous cell carcinomas. Microscopically, adenocarcinomas arising in the setting of Barrett esophagus are typically papillary and/or tubular. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C187703	Esophageal Atresia/Tracheoesophageal Fistula Type C	Esophageal Atresia/Tracheoesophageal Fistula Type C	EA/TEF Type C \|\| Type C Esophageal Atresia	A type of esophageal atresia (EA) / tracheoesophageal fistula (TEF) in which the upper segment of the esophagus ends in a blind pouch and the lower segment is connected to the trachea via a TEF. This is the most common type of EA/TEF, which accounts for approximately 85 percent of cases.
C165258	Cellosaurus Disease Terminology	C3513	Esophageal Carcinoma	Esophageal Carcinoma	Cancer of Esophagus \|\| Cancer of the Esophagus \|\| Carcinoma of Esophagus \|\| Carcinoma of the Esophagus \|\| Esophageal Cancer \|\| Esophagus Carcinoma	A malignant epithelial tumor arising from the esophageal mucosa. Two major histologic types of esophageal carcinoma have been described: squamous cell carcinoma and adenocarcinoma. This type of cancer is associated with excessive ethanol and cigarette usage.
C165258	Cellosaurus Disease Terminology	C6762	Esophageal Small Cell Carcinoma	Esophageal Small Cell Neuroendocrine Carcinoma	Esophageal Small Cell Carcinoma \|\| Esophageal Small Cell NEC \|\| Esophagus Small Cell Carcinoma \|\| Small Cell Carcinoma of Esophagus \|\| Small Cell Carcinoma of the Esophagus \|\| Small Cell Carcinoma, Esophagus	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the esophagus. It is characterized by the presence of malignant small cells.
C165258	Cellosaurus Disease Terminology	C4024	Esophageal Squamous Cell Carcinoma	Esophageal Squamous Cell Carcinoma	Esophageal Epidermoid Carcinoma \|\| Esophageal SCC \|\| Esophageal Squamous Cell Carcinoma, NOS \|\| Esophageal Squamous Cell Carcinoma, Not Otherwise Specified \|\| Esophagus SCC \|\| Esophagus Squamous Cell Carcinoma \|\| SCC of Esophagus \|\| SCC of the Esophagus \|\| Squamous Cell Carcinoma of Esophagus \|\| Squamous Cell Carcinoma of the Esophagus	A squamous cell carcinoma arising from the esophagus. It is associated with a long history of tobacco and alcohol abuse and is exceedingly rare before the age of 30. The median age is around 65 in both males and females. It is located mostly in the middle and lower third of the esophagus. Grossly, polypoid, ulcerated, plaque-like and occult lesions have been described. The microscopic features are the same as in other squamous cell carcinomas. Any degree of differentiation may occur, and variation within a single tumor is common. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C3407	Essential Thrombocythemia	Essential Thrombocythemia	Essential Thrombocytemia \|\| Essential Thrombocytosis \|\| Idiopathic Thrombocythemia \|\| Primary Thrombocythemia \|\| Primary Thrombocytosis	A chronic myeloproliferative neoplasm that involves primarily the megakaryocytic lineage. It is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage. (WHO, 2008)
C165258	Cellosaurus Disease Terminology	C4817	Ewing Sarcoma	Ewing Sarcoma	ES \|\| Ewing's Sarcoma \|\| Ewing's Tumor	A small round cell tumor that lacks morphologic, immunohistochemical, and electron microscopic evidence of neuroectodermal differentiation. It represents one of the two ends of the spectrum called Ewing sarcoma/peripheral neuroectodermal tumor. It affects mostly males under age 20, and it can occur in soft tissue or bone. Pain and the presence of a mass are the most common clinical symptoms.
C165258	Cellosaurus Disease Terminology	C27291	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor	Ewing Family of Tumors \|\| Ewing's Family of Tumors \|\| Ewing's Family of Tumours \|\| Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor \|\| Tumors of Ewing's Family \|\| Tumors of the Ewing's Family	A spectrum of malignant tumors, affecting mostly males under age 20, characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. These tumors may occur in the soft tissues or the bones. Pain and the presence of a mass are the most common clinical symptoms.
C165258	Cellosaurus Disease Terminology	C35871	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone	Ewing Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone	Ewing's Sarcoma/Peripheral Primitive Neuroectodermal Tumor of Bone	A spectrum of malignant tumors arising from the bone and characterized morphologically by the presence of small round cells. Ewing sarcoma and peripheral primitive neuroectodermal tumor represent the ends of a spectrum, with Ewing sarcoma lacking evidence of neural differentiation and the markers that characterize the peripheral primitive neuroectodermal tumor. Ewing sarcoma and peripheral primitive neuroectodermal tumor may share cytogenetic abnormalities, proto-oncogene expression, cell culture and immunohistochemical abnormalities. Pain and the presence of a mass are the most common clinical symptoms.
C165258	Cellosaurus Disease Terminology	C129025	Exfoliation Syndrome	Exfoliation Syndrome	Exfoliation Glaucoma	An autosomal dominant disorder caused by mutations in the LOXL1 gene, encoding lysyl oxidase homolog 1. The condition is characterized by abnormal fibrillar extracellular material in anterior segment tissues, and may lead to glaucoma.
C165258	Cellosaurus Disease Terminology	C92562	Expressive Language Disorder	Expressive Language Disorder		A disorder characterized by an impairment in the development of an individual's expressive language which is in contrast to his/her nonverbal intellect and receptive language development. The impairment may be acquired (i.e., due to a brain lesion or head trauma) or developmental (i.e., no known neurological insult).
C165258	Cellosaurus Disease Terminology	C202594	External Auditory Canal Squamous Cell Carcinoma	External Auditory Canal Squamous Cell Carcinoma	Squamous Cell Carcinoma of the External Auditory Canal	A squamous cell carcinoma that arises from the keratinizing squamous epithelium that lines the external auditory canal.
C165258	Cellosaurus Disease Terminology	C5328	Extra-Adrenal Retroperitoneal Paraganglioma	Extra-Adrenal Retroperitoneal Paraganglioma	Paraganglioma of Extra-Adrenal Retroperitoneal Area \|\| Paraganglioma of the Extra-Adrenal Retroperitoneal Area	A sympathetic paraganglioma arising from the retroperitoneum, outside the adrenal gland.
C165258	Cellosaurus Disease Terminology	C3302	Extramammary Paget Disease	Extramammary Paget Disease	Cutaneous Paget's Disease \|\| Extramammary Paget's Disease \|\| Paget Disease Extramammary \|\| Paget Disease, Extramammary \|\| Paget's Disease of Skin \|\| Paget's Disease of the Skin \|\| Paget's Skin Disease	A malignant neoplasm in which there is infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli (Paget cells). It may affect the anus, penis, scrotum, and vulva.
C165258	Cellosaurus Disease Terminology	C3898	Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue	Extranodal Marginal Zone Lymphoma of Mucosa-Associated Lymphoid Tissue	Extranodal Marginal Zone B-Cell Lymphoma of Mucosa-Associated Lymphoid Tissue \|\| MALT Lymphoma \|\| MALToma \|\| Mucosa-Associated Lymphoid Tissue Lymphoma	An indolent, extranodal type of non-Hodgkin lymphoma composed of small B-lymphocytes (centrocyte-like cells). The gastrointestinal tract is the most common site of involvement. Other common sites of involvement include lung, head and neck, ocular adnexae, skin, thyroid, and breast. Gastric involvement is associated with the presence of H. pylori infection. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C6586	Extrarenal Rhabdoid Tumor	Extrarenal Rhabdoid Tumor	Malignant Extrarenal Rhabdoid Neoplasm \|\| Rhabdoid Tumor of Soft Tissue	A rhabdoid tumor which arises in the soft tissues. It occurs in infants and children and may be associated with loss of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm.
C165258	Cellosaurus Disease Terminology	C96847	Extrarenal Rhabdoid Tumor of the Liver	Extrarenal Rhabdoid Tumor of the Liver	Extrarenal Malignant Rhabdoid Tumor of the Liver	A rare, aggressive primary malignant tumor of the liver that occurs in childhood. It is characterized by the presence of a diffuse infiltrate of undifferentiated cells with rhabdoid features.
C165258	Cellosaurus Disease Terminology	C7135	Extraskeletal Ewing Sarcoma	Extraskeletal Ewing Sarcoma	Extra-Osseous Ewing's Sarcoma \|\| Extraosseous Ewing Sarcoma \|\| Extraosseous Ewing's Sarcoma \|\| Extraosseous Ewing's Tumor \|\| Extraskeletal Ewing's Sarcoma	A rare malignant neoplasm of the soft tissues. It is typically a disease of children and young adults. Most commonly occurs in the paravertebral region, chest wall, pelvis and lower extremities. Treatment includes local excision with consideration for post-operative chemotherapy and/or radiotherapy.
C165258	Cellosaurus Disease Terminology	C27502	Extraskeletal Myxoid Chondrosarcoma \|\| Myxoid Chondrosarcoma	Extraskeletal Myxoid Chondrosarcoma	Extraosseous Chondrosarcoma \|\| Extraskeletal Chondrosarcoma \|\| Myxoid Chondrosarcoma \|\| Myxoid Extraosseous Chondrosarcoma \|\| Myxoid Extraskeletal Chondrosarcoma \|\| NR4A3-Rearranged Myxoid Sarcoma	A rare malignant soft tissue neoplasm of uncertain differentiation, characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. The most common sites of involvement are the deep soft tissues of the extremities, particularly the thigh. It usually presents as an enlarging soft tissue mass. Patients may have long survivals, but local recurrences and metastases occur in approximately half of the cases. The most common site of metastasis is the lungs.
C165258	Cellosaurus Disease Terminology	C8810	Extraskeletal Osteosarcoma	Extraskeletal Osteosarcoma	Extraosseous Osteosarcoma \|\| Extraskeletal Osteogenic Sarcoma \|\| Soft Tissue Osteosarcoma	An osteosarcoma arising from the soft tissue.
C165258	Cellosaurus Disease Terminology	C175048	Exudative Vitreoretinopathy 1	Exudative Vitreoretinopathy 1		An autosomal dominant condition caused by mutation(s) in the FZD4 gene, encoding frizzled-4. It is characterized by a variable phenotype resulting from incomplete development of the retinal vasculature. Mutation(s) in the FZD4 gene, also cause a form of retinopathy of prematurity.
C165258	Cellosaurus Disease Terminology	C43340	Eye Sebaceous Carcinoma	Eye Sebaceous Carcinoma	Ocular Sebaceous Carcinoma	A carcinoma that arises from the sebaceous glands of the ocular adnexa and sebaceous glands of the eyelid and caruncle.
C165258	Cellosaurus Disease Terminology	C84701	Fabry Disease	Fabry Disease	Alpha-Galactosidase A Deficiency	A rare X-linked inherited lysosomal storage disorder characterized by deficiency of the enzyme alpha-galactosidase A. It results in the accumulation of glycolipids in the blood vessels and tissues. Signs and symptoms include hypertension, cardiomyopathy, angiokeratomas, neuropathy, hypohidrosis, keratopathy, proteinuria, and renal failure.
C165258	Cellosaurus Disease Terminology	C84704	Facioscapulohumeral Muscular Dystrophy	Facioscapulohumeral Muscular Dystrophy		An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well.
C165258	Cellosaurus Disease Terminology	C172704	Facioscapulohumeral Muscular Dystrophy 1	Facioscapulohumeral Muscular Dystrophy 1		An autosomal dominant form of facioscapulohumeral muscular dystrophy associated with contraction of the D4Z4 macrosatellite repeat.
C165258	Cellosaurus Disease Terminology	C172705	Facioscapulohumeral Muscular Dystrophy 2	Facioscapulohumeral Muscular Dystrophy 2		A form of facioscapulohumeral muscular dystrophy with digenic inheritance, caused by a combination of heterozygous mutation in the SMCHD1 gene and the presence of a haplotype that is permissive for DUX4.
C165258	Cellosaurus Disease Terminology	C3867	Fallopian Tube Carcinoma	Fallopian Tube Carcinoma	Cancer of Fallopian Tube \|\| Cancer of the Fallopian Tube \|\| Carcinoma of Fallopian Tube \|\| Carcinoma of the Fallopian Tube \|\| Fallopian Tube Cancer	A carcinoma arising from the fallopian tube. Most patients are postmenopausal, and postmenopausal bleeding is the most frequently seen symptom. Morphologically, the majority of fallopian tube carcinomas are serous or endometrioid adenocarcinomas.
C165258	Cellosaurus Disease Terminology	C3339	Familial Adenomatous Polyposis	Familial Adenomatous Polyposis	APC - Adenomatous Polyposis Coli \|\| Adenomatous Polyposis Coli \|\| Familial Adenomatous Polyposis 1 \|\| Familial Adenomatous Polyposis Coli \|\| Familial Adenomatous Polyposis Syndrome \|\| Hereditary Adenomatous Polyposis Coli \|\| Polyposis Coli	An autosomal dominant disorder, characterized by the presence of multiple adenomas in the colon and rectum. It is caused by a germline mutation in the adenomatous polyposis coli (APC) gene which is located on the long arm of chromosome 5. The adenomas are most often tubular, and they have the tendency to progress to adenocarcinoma. They can occur throughout the colon, but they tend to concentrate in the rectum and sigmoid colon. The colorectal adenomas are detected during endoscopic examination between the age of 10 and 20 years. The adenomas increase in size and numbers with age, and there is usually progression of one or more adenomas to adenocarcinoma. The mean age of development of adenocarcinoma is about 40 years. Signs include rectal bleeding and mucousy diarrhea.
C165258	Cellosaurus Disease Terminology	C206111	Familial Adult Myoclonic Epilepsy 1	Familial Adult Myoclonic Epilepsy 1	Familial Cortical Myoclonic Tremor Associated with Epilepsy-1	An autosomal dominant condition caused by mutation(s) in the SAMD12 gene, encoding sterile alpha motif domain-containing protein 12. It is characterized by adult onset cortical myoclonic tremor and epilepsy.
C165258	Cellosaurus Disease Terminology	C84554	Familial Amyloid Neuropathy	Familial Amyloid Neuropathy	Amyloid Neuropathies, Familial \|\| Familial Amyloid Polyneuropathy	A rare inherited neuropathy characterized by deposition of amyloid in the peripheral nerves.
C165258	Cellosaurus Disease Terminology	C84555	Familial Amyloidosis	Hereditary Amyloidosis	Amyloidosis, Familial \|\| Familial Amyloidosis	An autosomal dominant inherited form of amyloidosis.
C165258	Cellosaurus Disease Terminology	C177248	Familial Arrhythmogenic Right Ventricular Dysplasia 10	Familial Arrhythmogenic Right Ventricular Dysplasia 10		An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the DSG2 gene, encoding desmoglein-2.
C165258	Cellosaurus Disease Terminology	C176008	Familial Arrhythmogenic Right Ventricular Dysplasia 13	Familial Arrhythmogenic Right Ventricular Dysplasia 13		An autosomal dominant subtype of arrhythmogenic right ventricular dysplasia caused by mutation(s) in the CTNNA3 gene, encoding catenin alpha-3.
C165258	Cellosaurus Disease Terminology	C173470	Familial Arrhythmogenic Right Ventricular Dysplasia 5	Familial Arrhythmogenic Right Ventricular Dysplasia 5	ARVC5 \|\| Arrhythmogenic Right Ventricular Cardiomyopathy 5	An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the TMEM43 gene on chromosome 3p25, encoding transmembrane protein 43. It is characterized by ventricular ectopy, left ventricular dilation, heart failure, and early death.
C165258	Cellosaurus Disease Terminology	C173471	Familial Arrhythmogenic Right Ventricular Dysplasia 9	Familial Arrhythmogenic Right Ventricular Dysplasia 9		An autosomal dominant arrhythmogenic cardiomyopathy caused by mutations(s) in the PKP2 gene on chromosome 12p11, encoding plakophilin 2. It is characterized by right ventricular structural abnormalities and arrhythmias, electrocardiographic depolarization/repolarization changes, and sudden death.
C165258	Cellosaurus Disease Terminology	C185245	Familial Catecholamine-Induced QT Prolongation	Familial Catecholamine-Induced QT Prolongation		A familial phenotype characterized by a normal QT interval at rest, but major QT lengthening during catecholergic stimulation.
C165258	Cellosaurus Disease Terminology	C175208	Familial Digital Arthropathy-Brachydactyly	Familial Digital Arthropathy-Brachydactyly		An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by interphalangeal, metacarpophalangeal, and metatarsophalangeal joint deformity and painful osteoarthritis becoming apparent during the first decade of life.
C165258	Cellosaurus Disease Terminology	C84706	Familial Dysautonomia	Familial Dysautonomia	Hereditary Sensory and Autonomic Neuropathy Type III \|\| Neuropathy, Hereditary Sensory and Autonomic, Type III \|\| Riley-Day Syndrome	A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system.
C165258	Cellosaurus Disease Terminology	C161005	Familial Focal Epilepsy with Variable Foci 1	Familial Focal Epilepsy with Variable Foci 1		An autosomal dominant familial form of epilepsy caused by mutation(s) in the DEPDC5 gene, encoding GATOR complex protein DEPDC5. It is characterized by focal seizures usually arising from the frontal or temporal lobe. The onset of seizures may occur from infancy to adulthood.
C165258	Cellosaurus Disease Terminology	C206114	Familial Focal Epilepsy with Variable Foci 2	Familial Focal Epilepsy with Variable Foci 2		An autosomal dominant familial form of epilepsy caused by mutation(s) in the NPRL2 gene, encoding GATOR1 complex protein NPRL2.
C165258	Cellosaurus Disease Terminology	C189277	Familial Hemiplegic Migraine-1	Familial Hemiplegic Migraine-1		An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A.
C165258	Cellosaurus Disease Terminology	C205634	Familial Hemiplegic Migraine-3	Familial Hemiplegic Migraine-3		An autosomal dominant subtype of familial hemiplegic migraine caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha.
C165258	Cellosaurus Disease Terminology	C61276	Familial Hemophagocytic Lymphohistiocytosis	Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytic Syndrome \|\| Primary Hemophagocytic Lymphohistiocytosis	A rare, life-threatening disorder usually appearing during the first few months of life. It is caused by abnormalities in the PRF1, UNC13D, and STX11 genes. It is characterized by histiocytic proliferation and phagocytosis. Patients present with fever, lymphadenopathy, and hepatosplenomegaly.
C165258	Cellosaurus Disease Terminology	C172092	Familial Hypertrophic Cardiomyopathy Type 1	Familial Hypertrophic Cardiomyopathy Type 1	Asymmetric Septal Hypertrophy \|\| Hereditary Ventricular Hypertrophy \|\| Idiopathic Hypertrophic Subaortic Stenosis	An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the CAV3 gene, MYH7 gene, or MYLK2 gene encoding caveolin-3, myosin heavy chain 7, and myosin light chain kinase 2, skeletal/cardiac muscle respectively.
C165258	Cellosaurus Disease Terminology	C188990	Familial Hypertrophic Cardiomyopathy Type 11	Familial Hypertrophic Cardiomyopathy Type 11		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ACTC1 gene, encoding actin, alpha cardiac muscle 1.
C165258	Cellosaurus Disease Terminology	C176899	Familial Hypertrophic Cardiomyopathy Type 14	Familial Hypertrophic Cardiomyopathy Type 14		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the MYH6 gene, encoding myosin-6.
C165258	Cellosaurus Disease Terminology	C172093	Familial Hypertrophic Cardiomyopathy Type 17	Familial Hypertrophic Cardiomyopathy Type 17		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the JPH2 gene, encoding junctophilin-2.
C165258	Cellosaurus Disease Terminology	C142892	Familial Hypertrophic Cardiomyopathy Type 2	Familial Hypertrophic Cardiomyopathy Type 2		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNT2 gene, encoding troponin T, cardiac muscle.
C165258	Cellosaurus Disease Terminology	C179295	Familial Hypertrophic Cardiomyopathy Type 26	Familial Hypertrophic Cardiomyopathy Type 26		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the FLNC gene, encoding filamin-C.
C165258	Cellosaurus Disease Terminology	C179054	Familial Hypertrophic Cardiomyopathy Type 27	Familial Hypertrophic Cardiomyopathy Type 27		An autosomal recessive subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the ALPK3 gene, encoding alpha-protein kinase 3.
C165258	Cellosaurus Disease Terminology	C182076	Familial Hypertrophic Cardiomyopathy Type 3	Familial Hypertrophic Cardiomyopathy Type 3		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TPM1 gene, encoding tropomyosin alpha-1 chain.
C165258	Cellosaurus Disease Terminology	C133725	Familial Hypertrophic Cardiomyopathy Type 4	Familial Hypertrophic Cardiomyopathy Type 4		An autosomal dominant condition caused by mutation(s) in the MYBPC3 gene, encoding MYBPC3 protein. It is characterized by severe neonatal hypertrophic cardiomyopathy.
C165258	Cellosaurus Disease Terminology	C177249	Familial Hypertrophic Cardiomyopathy Type 6	Familial Hypertrophic Cardiomyopathy Type 6		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the PRKAG2 gene, encoding 5'-AMP-activated protein kinase subunit gamma-2.
C165258	Cellosaurus Disease Terminology	C184989	Familial Hypertrophic Cardiomyopathy Type 7	Familial Hypertrophic Cardiomyopathy Type 7		An autosomal dominant subtype of familial hypertrophic cardiomyopathy caused by mutation(s) in the TNNI3 gene, encoding troponin I, cardiac muscle.
C165258	Cellosaurus Disease Terminology	C84707	Familial Mediterranean Fever	Familial Mediterranean Fever		A usually autosomal recessive inherited inflammatory disorder caused by mutations in the MEFV gene. It is characterized by recurrent painful inflammatory attacks in the abdomen, joints, and chest. The inflammatory attacks are associated with fever.
C165258	Cellosaurus Disease Terminology	C165527	Familial Partial Lipodystrophy Type 2	Familial Partial Lipodystrophy Type 2		An autosomal dominant sub-type of familial partial lipodystrophy caused by mutation(s) in the LMNA gene encoding prelamin-A/C.
C165258	Cellosaurus Disease Terminology	C162696	Familial Platelet Disorder with Associated Myeloid Malignancy	Familial Platelet Disorder with Associated Myeloid Malignancy		An autosomal dominant condition caused by mutation(s) in the RUNX1 gene, encoding runt-related transcription factor 1. It is characterized by thrombocytopenia, abnormal platelet function, and a propensity to develop acute myeloid leukemia.
C165258	Cellosaurus Disease Terminology	C189282	Familial Primary Localized Cutaneous Amyloidosis-1	Hereditary Primary Localized Cutaneous Amyloidosis-1	Familial Primary Localized Cutaneous Amyloidosis-1	An autosomal dominant condition caused by mutation(s) in the OSMR gene, encoding oncostatin-M-specific receptor subunit beta. It is characterized by localized cutaneous amyloidosis.
C165258	Cellosaurus Disease Terminology	C183309	Familial Restrictive Cardiomyopathy 5	Familial Restrictive Cardiomyopathy 5		An autosomal dominant condition caused by mutation(s) in the FLNC gene, encoding filamin-C. It is characterized by restrictive cardiomyopathy in the context of normal contractility, left ventricular wall thickness and systolic function.
C165258	Cellosaurus Disease Terminology	C62505	Fanconi Anemia	Fanconi Anemia	Fanconi's Anemia \|\| Pancytopenia, Congenital \|\| Panmyelopathy, Fanconi \|\| Primary Erythroid Hypoplasia	An autosomal recessive genetic disorder characterized by bone marrow failure, skeletal abnormalities, and an increased incidence of the development of neoplasias.
C165258	Cellosaurus Disease Terminology	C125702	Fanconi Anemia, Complementation Group A	Fanconi Anemia, Complementation Group A		Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations are the most common cause of Fanconi anemia. This gene provides instructions for making a protein that is involved in the Fanconi anemia (FA) pathway.
C165258	Cellosaurus Disease Terminology	C125703	Fanconi Anemia, Complementation Group B	Fanconi Anemia, Complementation Group B		Fanconi anemia caused by mutations of the FANCB gene. This gene encodes the protein for complementation group B.
C165258	Cellosaurus Disease Terminology	C125704	Fanconi Anemia, Complementation Group C	Fanconi Anemia, Complementation Group C		Fanconi anemia caused by mutations of the FANCC gene. This gene provides instructions for making a protein that delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA.
C165258	Cellosaurus Disease Terminology	C125705	Fanconi Anemia, Complementation Group D1	Fanconi Anemia, Complementation Group D1		Fanconi anemia caused by mutations of the BRCA2 gene.
C165258	Cellosaurus Disease Terminology	C125706	Fanconi Anemia, Complementation Group D2	Fanconi Anemia, Complementation Group D2		Fanconi anemia caused by mutations of the FANCD2 gene. This gene is involved in the repair of DNA double-strand breaks, both by homologous recombination and single-strand annealing.
C165258	Cellosaurus Disease Terminology	C125709	Fanconi Anemia, Complementation Group E	Fanconi Anemia, Complementation Group E		Fanconi anemia caused by mutations of the FANCE gene. This is a protein coding gene. It is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2.
C165258	Cellosaurus Disease Terminology	C125707	Fanconi Anemia, Complementation Group F	Fanconi Anemia, Complementation Group F		Fanconi anemia caused by mutations of the FANCF gene. This gene encodes a polypeptide with homology to the prokaryotic RNA-binding protein ROM.
C165258	Cellosaurus Disease Terminology	C125708	Fanconi Anemia, Complementation Group G	Fanconi Anemia, Complementation Group G		Fanconi anemia caused by mutations of the FANCG gene.
C165258	Cellosaurus Disease Terminology	C129026	Fanconi Anemia, Complementation Group I	Fanconi Anemia, Complementation Group I		Fanconi anemia caused by mutations in the FANCI gene, encoding Fanconi anemia group I protein.
C165258	Cellosaurus Disease Terminology	C129027	Fanconi Anemia, Complementation Group J	Fanconi Anemia, Complementation Group J		Fanconi anemia caused by mutations in the BRIP1 gene, encoding Fanconi anemia group J protein.
C165258	Cellosaurus Disease Terminology	C164677	Fanconi Anemia, Complementation Group L	Fanconi Anemia, Complementation Group L		Fanconi anemia caused by mutations in the FANCL gene, encoding E3 ubiquitin-protein ligase FANCL.
C165258	Cellosaurus Disease Terminology	C176894	Fanconi Anemia, Complementation Group N	Fanconi Anemia, Complementation Group N		Fanconi anemia caused by mutation(s) in the PALB2 gene, encoding partner and localizer of BRCA2.
C165258	Cellosaurus Disease Terminology	C84710	Farber Lipogranulomatosis	Farber Lipogranulomatosis		A very rare autosomal recessive metabolic disorder affecting lipid metabolism. It is caused by mutations in the ASAH1 gene and is characterized by fatty accumulation in the body tissues. Patients develop lipogranulomas in the skin and internal organs, edema and pain in the joints and a hoarse voice. It may be associated with intellectual disability.
C165258	Cellosaurus Disease Terminology	C176016	Febrile Seizures, Familial, 3A	Febrile Seizures, Familial, 3A		An autosomal dominant condition caused by mutation(s) in the SCN1A gene, encoding sodium channel protein type 1 subunit alpha. It is characterized by isolated febrile seizures, typically with onset between 3 months to 5 years, with spontaneous remission by 6 years of age. Mutation(s) in the SCN1A gene are also responsible for generalized epilepsy with febrile seizures plus, type 2; and Dravet syndrome.
C165258	Cellosaurus Disease Terminology	C134559	Feline Bronchioloalveolar Lung Carcinoma	Feline Bronchioloalveolar Lung Carcinoma		Bronchioloalveolar lung carcinoma that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C134770	Feline Erythroleukemia	Feline Erythroleukemia		Erythroleukemia that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C134560	Feline Fibrosarcoma	Feline Fibrosarcoma		Fibrosarcoma that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C157503	Feline Histiocytic Sarcoma	Feline Histiocytic Sarcoma		Histiocytic sarcoma occurring in a cat.
C165258	Cellosaurus Disease Terminology	C135724	Feline Large Granular Lymphocyte Lymphoma	Feline Large Granular Lymphocyte Lymphoma		A T-cell leukemia in which there is a persistent increase in the number of large granular lymphocytes in the peripheral blood and occurring in a cat.
C165258	Cellosaurus Disease Terminology	C132193	Feline Lymphoma	Feline Lymphoma		A lymphoma that occurs in cats. It is associated with exposure to feline leukemia virus and feline immunodeficiency virus.
C165258	Cellosaurus Disease Terminology	C132274	Feline Mammary Carcinoma	Feline Mammary Carcinoma		Mammary carcinoma occurring in a cat.
C165258	Cellosaurus Disease Terminology	C156362	Feline Melanoma	Feline Melanoma		A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C132824	Feline Oral Squamous Cell Carcinoma	Feline Oral Squamous Cell Carcinoma		Oral squamous cell carcinoma that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C132825	Feline Osteosarcoma	Feline Osteosarcoma		Osteosarcoma that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C176702	Feline Progressive Histiocytosis	Feline Progressive Histiocytosis		A condition occurring in cats characterized by solitary or multiple cutaneous nodules and papules, which may metastasize late in the course of the disease. Lesions consist of poorly circumscribed histiocytic infiltrates of the superficial and deep dermis, with variable extension into the subcutis.
C165258	Cellosaurus Disease Terminology	C135008	Feline Reticulum Cell Sarcoma	Feline Reticulum Cell Sarcoma		Reticulum cell sarcoma that occurs in a cat.
C165258	Cellosaurus Disease Terminology	C181658	Feline Synovial Cell Sarcoma	Feline Synovial Cell Sarcoma		Synovial cell sarcoma occurring in a cat.
C165258	Cellosaurus Disease Terminology	C198578	Female-Restricted Wieacker-Wolff Syndrome	Female-Restricted Wieacker-Wolff Syndrome		An X-linked dominant condition caused by mutation(s) in the ZC4H2 gene, encoding zinc finger C4H2 domain-containing protein. It is characterized by neurogenic arthrogryposis resulting from decreased fetal movements. Additional features may include global developmental delay, peripheral neuropathy, and characteristic facies.
C165258	Cellosaurus Disease Terminology	C129071	Fetal Akinesia Deformation Sequence	Fetal Akinesia Deformation Sequence	Pena-Shokeir syndrome, Type 1	A condition characterized by fetal akinesia and intrauterine growth restriction, that may be associated with mutation(s) in the RAPSN or DOK7 genes, encoding 43 kDa receptor-associated protein of the synapse and protein Dok-7, respectively.
C165258	Cellosaurus Disease Terminology	C171270	FG Syndrome Type 1	FG Syndrome Type 1	Opitz-Kaveggia Syndrome	An X-linked recessive mental retardation syndrome caused by mutation(s) in the MED12 gene, encoding mediator of RNA polymerase II transcription subunit 12.
C165258	Cellosaurus Disease Terminology	C4322	Fibrillary Astrocytoma	Fibrillary Astrocytoma		The most frequent histological variant of diffuse astrocytoma. It is predominantly composed of fibrillary neoplastic astrocytes. Nuclear atypia is a diagnostic criterion but mitotic activity, necrosis and microvascular proliferation are absent. The occasional or regional occurrence of gemistocytic neoplastic cells is compatible with the diagnosis of fibrillary astrocytoma. (WHO)
C165258	Cellosaurus Disease Terminology	C7075	Fibroblastic Neoplasm	Fibroblastic Neoplasm	Fibroblastic Tumor \|\| Fibrocytic Neoplasm \|\| Fibrocytic Tumor \|\| Fibrogenic Neoplasm \|\| FibrogenicTumor \|\| Fibrous Neoplasm \|\| Fibrous Tumor	A benign, intermediate, or malignant mesenchymal neoplasm characterized by the presence of neoplastic fibroblasts.
C165258	Cellosaurus Disease Terminology	C3040	Fibrodysplasia Ossificans Progressiva	Fibrodysplasia Ossificans Progressiva	Myositis Ossificans Progressiva	A condition in which there is progressive heterotopic bone formation of the tendons and muscles.
C165258	Cellosaurus Disease Terminology	C84714	Fibromuscular Dysplasia	Fibromuscular Dysplasia		A disorder characterized by fibrous thickening of the arterial wall resulting in narrowing of the arterial lumen. It most often affects the renal artery and less often the carotid artery and abdominal arteries. It can cause hypertension and aneurysm formation.
C165258	Cellosaurus Disease Terminology	C3043	Fibrosarcoma	Fibrosarcoma		A malignant mesenchymal fibroblastic neoplasm affecting the soft tissue and bone.
C165258	Cellosaurus Disease Terminology	C186787	Fibrotic Hypersensitivity Pneumonitis	Fibrotic Hypersensitivity Pneumonitis		Interstitial lung fibrosis resulting from chronic hypersensitivity pneumonitis.
C165258	Cellosaurus Disease Terminology	C34609	Fibrous Dysplasia	Fibrous Dysplasia	Fibrous Dysplasia of Bone	A benign medullary neoplasm characterized by the presence of poorly organized and inadequately mineralized bone and intervening fibrous tissue, in varying proportions. It can be monostotic or polyostotic. The skull, femur, tibia, and humerus are the most frequently affected bones. It manifests with pain, deformities, and fractures. GNAS activating mutations are detected in the majority of cases.
C165258	Cellosaurus Disease Terminology	C135006	Fish Melanoma	Fish Melanoma		Melanoma that occurs in a fish.
C165258	Cellosaurus Disease Terminology	C175241	Floating-Harbor Syndrome	Floating-Harbor Syndrome		An autosomal dominant condition caused by mutation(s) in the SRCAP gene, encoding helicase SRCAP. It is characterized by proportionate short stature, delayed bone age, delayed speech development, and typical facial features.
C165258	Cellosaurus Disease Terminology	C129873	Floor of Mouth Basaloid Squamous Cell Carcinoma	Floor of Mouth Basaloid Squamous Cell Carcinoma	Floor of Mouth BSCC	An aggressive variant of squamous cell carcinoma that arises from the floor of the mouth. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading.
C165258	Cellosaurus Disease Terminology	C4041	Floor of Mouth Squamous Cell Carcinoma	Floor of Mouth Squamous Cell Carcinoma	Floor of Mouth SCC \|\| SCC of Floor of Mouth \|\| SCC of the Floor of Mouth \|\| Squamous Cell Carcinoma of Floor of Mouth \|\| Squamous Cell Carcinoma of the Floor of Mouth	A squamous cell carcinoma of the oral cavity that arises from the floor of the mouth.
C165258	Cellosaurus Disease Terminology	C201592	Focal Cortical Dysplasia	Focal Cortical Dysplasia		A congenital cortical developmental abnormality characterized by focal architectural distortion of the cortical brain layers. It is associated with the presence of cytologic abnormalities including hypertrophic and dysmorphic neurons. It is caused by genetic or acquired factors and is often associated with epilepsy.
C165258	Cellosaurus Disease Terminology	C201593	Focal Cortical Dysplasia Type 2	Focal Cortical Dysplasia Type 2	Focal Cortical Dysplasia Type II	Focal cortical dysplasia characterized by disrupted cortical lamination and specific cytological abnormalities. It includes type IIa with dysmorphic neurons and type IIb with dysmorphic neurons and balloon cells.
C165258	Cellosaurus Disease Terminology	C37308	Focal Segmental Glomerulosclerosis	Focal Segmental Glomerulosclerosis	FSGS - Focal Segmental Glomerulosclerosis	A renal disorder characterized by sclerotic lesions in the glomeruli. Causes include drugs, viruses, and malignancies (lymphomas), or it may be idiopathic. It presents with asymptomatic proteinuria or nephritic syndrome and it may lead to renal failure.
C165258	Cellosaurus Disease Terminology	C205635	Focal Segmental Glomerulosclerosis 2	Focal Segmental Glomerulosclerosis 2		An autosomal dominant type of focal segmental glomerulosclerosis caused by mutation(s) in the TRPC6 gene, encoding short transient receptor potential channel 6.
C165258	Cellosaurus Disease Terminology	C202604	Focal Segmental Glomerulosclerosis 7	Focal Segmental Glomerulosclerosis 7		An autosomal dominant type of focal segmental glomerulosclerosis caused by mutation(s) in the PAX2 gene, encoding which paired box protein Pax-2.
C165258	Cellosaurus Disease Terminology	C3209	Follicular Lymphoma	Follicular Lymphoma	Follicle Center Lymphoma \|\| Follicular Non-Hodgkin Lymphoma \|\| Follicular Non-Hodgkin's Lymphoma	A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).
C165258	Cellosaurus Disease Terminology	C84717	Fragile X Syndrome	Fragile X Syndrome		A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.
C165258	Cellosaurus Disease Terminology	C126566	Fragile X Tremor/Ataxia Syndrome	Fragile X Tremor/Ataxia Syndrome	FXTAS	An X-linked dominant inherited syndrome caused by mutations in the FMR1 gene. It is a late onset disorder, usually occurring after age 50. It affects males more frequently than females. It is characterized by abnormalities in the cerebellum and white matter. It manifests with intention tremor, ataxia, and cognitive disabilities. The symptoms worsen with age.
C165258	Cellosaurus Disease Terminology	C118436	Fraser Syndrome	Fraser Syndrome	Cryptophthalmos-Syndactyly Syndrome	A rare, autosomal recessive inherited disorder caused by mutations in the FRAS1, FREM2, or GRIP1 genes. It is characterized by the presence of cryptophthalmos, cutaneous syndactyly, and genitourinary abnormalities.
C165258	Cellosaurus Disease Terminology	C122805	Frasier Syndrome	Frasier Syndrome		A condition, which typically presents during adolescence, that is caused by WT-1 mutation, and is characterized by a developmental sex disorder, FSGS, and may be associated with gonadoblastoma.
C165258	Cellosaurus Disease Terminology	C84718	Friedreich Ataxia	Friedreich Ataxia	Friedreich's Ataxia	An autosomal recessive inherited disorder caused by mutations in the FXN gene. It is characterized by progressive degeneration of the nerve tissues of the spinal cord. The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.
C165258	Cellosaurus Disease Terminology	C134771	Frog Pronephric Kidney Tumor	Frog Pronephric Kidney Tumor		A kidney neoplasm of the pronephric cell type that occurs in a frog.
C165258	Cellosaurus Disease Terminology	C129028	Frontonasal Dysplasia	Frontonasal Dysplasia	Frontonasal Dysplasia 1	Frontonasal dysplasia caused by mutations in the ALX3 gene, encoding homeobox protein aristaless-like 3. It is inherited in an autosomal recessive fashion.
C165258	Cellosaurus Disease Terminology	C84719	Frontotemporal Dementia	Frontotemporal Dementia		A syndrome caused by progressive degeneration of the frontal or temporal lobes of the brain. It is manifested with personality changes and deterioration of the language skills.
C165258	Cellosaurus Disease Terminology	C168756	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1	Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1		An autosomal dominant condition caused by heterozygous hexanucleotide repeat expansion in a noncoding region of the C9ORF72 gene , encoding guanine nucleotide exchange C9orf72. It is characterized by amyotrophic lateral sclerosis with frontotemporal dementia.
C165258	Cellosaurus Disease Terminology	C128119	Fructose-1,6-Bisphosphatase Deficiency	Fructose-1,6-Bisphosphatase Deficiency
C165258	Cellosaurus Disease Terminology	C98932	Fryns Syndrome	Fryns Syndrome		A rare syndrome inherited in an autosomal recessive pattern. It is characterized by the presence of diaphragmatic defects, distinctive facial features (hypertelorism, low-set ears, flat nasal bridge, and micrognathia), distal digital hypoplasia, lung hypoplasia, and brain, gastrointestinal, and cardiovascular malformations.
C165258	Cellosaurus Disease Terminology	C84721	Fuchs Endothelial Dystrophy	Fuchs Endothelial Dystrophy	Fuchs' Endothelial Dystrophy	An autosomal dominant, bilateral, slowly progressive degeneration of corneal endothelial cells with thickening of Descemet's membrane and accumulation of excrescences. It results in corneal edema and loss of vision.
C165258	Cellosaurus Disease Terminology	C61274	Fucosidosis	Fucosidosis		An autosomal recessive lysosomal storage disease characterized by a defective alpha-L-fucosidase. It results in accumulation of fucose in the tissues. Signs and symptoms include psychomotor retardation, dysostosis multiplex, and neural disturbances.
C165258	Cellosaurus Disease Terminology	C165531	Gabriele-de Vries Syndrome	Gabriele-de Vries Syndrome		An autosomal dominant condition caused by mutation(s) in the YY1 gene, encoding transcriptional repressor protein YY1. It is a neurodevelopmental disorder characterized by intellectual disability, developmental delay, and variable functional and morphological abnormalities.
C165258	Cellosaurus Disease Terminology	C36455	Gain of Chromosome 8	Gain of Chromosome 8		A cytogenetic abnormality that refers to the allelic gain of all or part of chromosome 8.
C165258	Cellosaurus Disease Terminology	C114767	Galactokinase Deficiency	Galactokinase Deficiency	GALK Deficiency \|\| Galactosemia Type 2	An autosomal recessive disorder caused by mutations in the GALK1 gene. The disorder is characterized by an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. Its major clinical symptom is the development of cataracts during the first weeks or months of life.
C165258	Cellosaurus Disease Terminology	C84723	Galactosemia	Galactosemia		An autosomal recessive inherited metabolic disorder caused by mutations in the GALE, GALK1, and GALT genes. It is characterized by deficiency of the enzymes responsible for the metabolism of galactose. Signs and symptoms include intellectual disability, hepatomegaly, hepatic failure, and renal failure.
C165258	Cellosaurus Disease Terminology	C129928	Galactosialidosis	Galactosialidosis	Goldberg Syndrome \|\| Neuraminidase Deficiency with Beta-Galactosidase Deficiency	An autosomal recessive lysosomal storage disease caused by mutation(s) in the CTSA gene, encoding lysosomal protective protein. It is characterized by a combined deficiency of neuraminidase and beta-galactosidase.
C165258	Cellosaurus Disease Terminology	C9166	Gallbladder Adenocarcinoma	Gallbladder Adenocarcinoma	Adenocarcinoma of Gallbladder \|\| Adenocarcinoma of the Gallbladder	An adenocarcinoma arising from the gallbladder. It is the most common malignant tumor of the gallbladder and it is usually well to moderately differentiated. The incidence is higher in patients with gallstones than in patients without gallstones. Signs and symptoms usually present late in the course of the disease and are reminiscent of those of chronic cholecystitis including right upper quadrant pain. Histologic variants include adenocarcinoma of the intestinal type, clear cell adenocarcinoma, mucinous adenocarcinoma, papillary adenocarcinoma, and signet ring adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C7356	Gallbladder Adenosquamous Carcinoma	Gallbladder Adenosquamous Carcinoma	Adenosquamous Carcinoma of Gallbladder \|\| Adenosquamous Carcinoma of the Gallbladder	A carcinoma that arises from the gallbladder. It is characterized by the presence of glandular and squamous malignant epithelial components.
C165258	Cellosaurus Disease Terminology	C3844	Gallbladder Carcinoma	Gallbladder Carcinoma	Cancer of Gallbladder \|\| Cancer of the Gallbladder \|\| Carcinoma of Gallbladder \|\| Carcinoma of the Gallbladder \|\| Gallbladder Cancer	A malignant tumor arising from the epithelium of the gallbladder. It is usually associated with the presence of gallstones. Clinical symptoms are not specific and usually present late in the course. Morphologically, most gallbladder carcinomas are adenocarcinomas; squamous cell carcinomas, adenosquamous carcinomas, signet ring carcinomas, and undifferentiated carcinomas can also occur.
C165258	Cellosaurus Disease Terminology	C9167	Gallbladder Undifferentiated Carcinoma	Gallbladder Undifferentiated Carcinoma	Anaplastic Carcinoma of Gallbladder \|\| Anaplastic Carcinoma of the Gallbladder \|\| Anaplastic Gallbladder Carcinoma \|\| Undifferentiated Carcinoma of Gallbladder \|\| Undifferentiated Carcinoma of the Gallbladder \|\| Undifferentiated Gallbladder Carcinoma	A carcinoma without evidence of differentiation arising from the gallbladder. The most common variant is the spindle and giant cell type which resembles a sarcoma.
C165258	Cellosaurus Disease Terminology	C132195	Galloway-Mowat Syndrome	Galloway-Mowat Syndrome	GAMOS	An autosomal recessive neurodegenerative condition caused by mutation(s) in the WDR73 gene, encoding WD repeat-containing protein 73. It is characterized by microcephaly and severely delayed psychomotor development.
C165258	Cellosaurus Disease Terminology	C3788	Ganglioglioma	Ganglioglioma		A well differentiated, slow growing neuroepithelial neoplasm composed of neoplastic, mature ganglion cells and neoplastic glial cells. Some gangliogliomas show anaplastic features in their glial component and are considered to be WHO grade III. Rare cases of newly diagnosed gangliogliomas with grade IV (glioblastoma) changes in the glial component have also been reported. (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C3790	Ganglioneuroblastoma	Ganglioneuroblastoma		A malignant neuroblastic tumor characterized by the presence of neuroblastic cells, ganglion cells, and a stroma with Schwannian differentiation constituting more than fifty-percent of the tumor volume. There are two histologic subtypes identified: ganglioneuroblastoma, intermixed and ganglioneuroblastoma, nodular.
C165258	Cellosaurus Disease Terminology	C6728	Gardner Syndrome	Gardner Syndrome	Gardner's Syndrome	A variant of familial adenomatous polyposis. It is an autosomal dominant syndrome characterized by multiple colonic polyps predisposing to carcinoma of the colon, osteomas of the skull, epidermoid cysts, and fibromas. It is associated with mutation of the APC gene.
C165258	Cellosaurus Disease Terminology	C4004	Gastric Adenocarcinoma	Gastric Adenocarcinoma	Adenocarcinoma of Stomach \|\| Adenocarcinoma of the Stomach \|\| Stomach Adenocarcinoma	An adenocarcinoma arising from the stomach glandular epithelium. Gastric adenocarcinoma is primarily a disease of older individuals. It most commonly develops after a long period of atrophic gastritis and is strongly associated with Helicobacter pylori infection. The lack of early symptoms often delays the diagnosis of gastric cancer. The majority of patients present with advanced tumors which have poor rates of curability. Microscopically, two important histologic types of gastric adenocarcinoma are recognized: the intestinal and diffuse type. The overall prognosis of gastric adenocarcinomas is poor, even in patients who receive a "curative" resection (adapted from Sternberg's Surgical Pathology, 3rd ed., 1999).
C165258	Cellosaurus Disease Terminology	C5474	Gastric Adenosquamous Carcinoma	Gastric Adenosquamous Carcinoma	Adenosquamous Carcinoma of Stomach \|\| Adenosquamous Carcinoma of the Stomach	A carcinoma that arises from the stomach and is characterized by the presence of malignant cells with glandular and squamous differentiation.
C165258	Cellosaurus Disease Terminology	C4911	Gastric Carcinoma	Gastric Carcinoma	Cancer of Stomach \|\| Cancer of the Stomach \|\| Carcinoma of Stomach \|\| Carcinoma of the Stomach \|\| Gastric Cancer \|\| Stomach Cancer \|\| Stomach Carcinoma	A malignant epithelial tumor of the stomach mucosa. The vast majority of gastric carcinomas are adenocarcinomas, arising from the gastric glandular epithelium.
C165258	Cellosaurus Disease Terminology	C95749	Gastric Choriocarcinoma	Gastric Choriocarcinoma		A malignant germ cell tumor that arises from the stomach. It is characterized by the presence of syncytiotrophoblast and cytotrophoblast cellular components. It is often associated with lymph node and hematogenous metastases.
C165258	Cellosaurus Disease Terminology	C9159	Gastric Diffuse Adenocarcinoma	Gastric Diffuse Adenocarcinoma	Adenocarcinoma of Linitis Plastica Type \|\| Adenocarcinoma of the Linitis Plastica Type \|\| Diffuse Adenocarcinoma of Stomach \|\| Diffuse Adenocarcinoma of the Stomach \|\| Diffuse Stomach Adenocarcinoma	An adenocarcinoma arising from the stomach. Microscopically, it is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. Many cells contain mucin droplets, producing a signet-ring configuration.
C165258	Cellosaurus Disease Terminology	C8398	Gastric Fundus Carcinoma	Gastric Fundus Carcinoma	Cancer of Fundus of Stomach \|\| Cancer of Gastric Fundus \|\| Cancer of the Fundus of the Stomach \|\| Cancer of the Gastric Fundus \|\| Carcinoma of Fundus of Stomach \|\| Carcinoma of Gastric Fundus \|\| Carcinoma of the Fundus of the Stomach \|\| Carcinoma of the Gastric Fundus \|\| Gastric Fundus Cancer	A carcinoma that arises from the fundus of the stomach.
C165258	Cellosaurus Disease Terminology	C95747	Gastric Hepatoid Adenocarcinoma	Gastric Hepatoid Adenocarcinoma		A rare adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of large polygonal malignant cells with eosinophilic cytoplasm resembling hepatocytes.
C165258	Cellosaurus Disease Terminology	C27200	Gastric Leiomyosarcoma	Gastric Leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the stomach. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C5248	Gastric Mucinous Adenocarcinoma	Gastric Mucinous Adenocarcinoma	Mucinous Adenocarcinoma of Stomach \|\| Mucinous Adenocarcinoma of the Stomach \|\| Mucinous Gastric Adenocarcinoma \|\| Mucinous Stomach Adenocarcinoma	A variant of gastric adenocarcinoma with more than half of the tumor containing extracellular mucinous pools.
C165258	Cellosaurus Disease Terminology	C5250	Gastric Signet Ring Cell Adenocarcinoma	Gastric Signet Ring Cell Adenocarcinoma	Gastric Signet Ring Cell Adenocarcinoma \|\| Gastric Signet-Ring Cell Adenocarcinoma \|\| Signet Ring Cell Adenocarcinoma of Stomach \|\| Signet Ring Cell Adenocarcinoma of the Stomach \|\| Signet Ring Cell Gastric Adenocarcinoma \|\| Signet Ring Cell Stomach Adenocarcinoma	A poorly cohesive gastric adenocarcinoma characterized by malignant cells containing intracytoplasmic mucin.
C165258	Cellosaurus Disease Terminology	C6764	Gastric Small Cell Carcinoma	Gastric Small Cell Neuroendocrine Carcinoma	Gastric Small Cell Carcinoma \|\| Small Cell Carcinoma of Stomach \|\| Small Cell Carcinoma of the Stomach	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells.
C165258	Cellosaurus Disease Terminology	C5473	Gastric Tubular Adenocarcinoma	Gastric Tubular Adenocarcinoma	Tubular Adenocarcinoma of Stomach \|\| Tubular Adenocarcinoma of the Stomach	A variant of gastric adenocarcinoma characterized by prominent dilated or slit-like tubules.
C165258	Cellosaurus Disease Terminology	C5476	Gastric Undifferentiated Carcinoma	Gastric Undifferentiated Carcinoma	Anaplastic Carcinoma of Stomach \|\| Anaplastic Carcinoma of the Stomach \|\| Anaplastic Gastric Carcinoma \|\| Undifferentiated Carcinoma of Stomach \|\| Undifferentiated Carcinoma of the Stomach \|\| Undifferentiated Gastric Carcinoma	A carcinoma that arises from the stomach and is characterized by the absence of microscopic features of glandular or squamous differentiation.
C165258	Cellosaurus Disease Terminology	C26780	Gastritis	Gastritis		Inflammation of the stomach.
C165258	Cellosaurus Disease Terminology	C9296	Gastroesophageal Junction Adenocarcinoma	Gastroesophageal Junction Adenocarcinoma	Adenocarcinoma of Cardioesophageal Junction \|\| Adenocarcinoma of Gastroesophageal Junction \|\| Adenocarcinoma of the Cardioesophageal Junction \|\| Adenocarcinoma of the EG Junction \|\| Adenocarcinoma of the Esophagogastric Junction \|\| Adenocarcinoma of the GE Junction \|\| Adenocarcinoma of the Gastroesophageal Junction	An adenocarcinoma that arises from and straddles the junction of the stomach and esophagus. The category of adenocarcinomas of the gastroesophageal junction also includes the majority of adenocarcinomas previously called gastric cardia adenocarcinomas. Squamous cell carcinomas that affect or cross the junction of the stomach and esophagus are classified as carcinomas of the distal esophagus. Adenocarcinoma of the gastroesophageal junction occurs more often in Caucasian middle aged and elderly males. Clinical signs and symptoms include dysphagia, abdominal pain, and weight loss. The prognosis depends on the completeness of the surgical resection, the number of lymph nodes involved by cancer, and the presence or absence of postoperative complications. The presence of TP53 mutations indicates worse prognosis.
C165258	Cellosaurus Disease Terminology	C126323	Gastroesophageal Junction Large Cell Neuroendocrine Carcinoma	Gastroesophageal Junction Large Cell Neuroendocrine Carcinoma		An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the gastroesophageal junction. It is characterized by the presence of malignant large cells.
C165258	Cellosaurus Disease Terminology	C3868	Gastrointestinal Stromal Tumor	Gastrointestinal Stromal Tumor	Gastrointestinal Stromal Neoplasm	A stromal tumor most commonly seen in the gastrointestinal tract. Rare cases of solitary masses in the omentum or the mesentery have also been reported (extragastrointestinal gastrointestinal stromal tumor). It is a tumor that differentiates along the lines of interstitial cells of Cajal. Most cases contain KIT- or PDGFRA-activating mutations. Until recently, surgery has been the only effective therapy for this tumor. However, many patients still experience recurrence. Conventional chemotherapy and radiation therapy have been of limited value. A KIT tyrosine kinase inhibitor, imatinib mesylate (also known as STI-571 or Gleevec), is now effective in the treatment of relapsed and unresectable cases.
C165258	Cellosaurus Disease Terminology	C61268	Gaucher Disease	Gaucher Disease		An inherited lysosomal storage disease caused by deficiency of the enzyme glucocerebrosidase. It results in the accumulation of a fatty substance called glucocerebroside in mononuclear cells in the bone marrow, liver, spleen, brain, and kidneys. Signs and symptoms include hepatomegaly, splenomegaly, neurologic disorders, lymphadenopathy, skeletal disorders, anemia and thrombocytopenia.
C165258	Cellosaurus Disease Terminology	C142805	Gelatinous Drop-Like Corneal Dystrophy	Gelatinous Drop-Like Corneal Dystrophy		An autosomal recessive corneal dystrophy caused by mutation(s) in the TACSTD2 gene, encoding tumor-associated calcium signal transducer 2. It is characterized by severe corneal amyloidosis that may result in blindness.
C165258	Cellosaurus Disease Terminology	C202607	Geleophysic Dysplasia 1	Geleophysic Dysplasia 1		An autosomal recessive condition caused by mutation(s) in the ADAMTSL2 gene, encoding ADAMTS-like protein 2. It is characterized by severe short stature, short hands and feet, skin thickening, and variable cardiorespiratory abnormalities.
C165258	Cellosaurus Disease Terminology	C92622	Generalized Anxiety Disorder	Generalized Anxiety Disorder		An anxiety disorder characterized by excessive and difficult-to-control worry about a number of life situations. The worry is accompanied by restlessness, fatigue, inability to concentrate, irritability, muscle tension, and/or sleep disturbance and lasts for at least 6 months.
C165258	Cellosaurus Disease Terminology	C128805	Generalized Arterial Calcification of Infancy 1	Generalized Arterial Calcification of Infancy 1		An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications.
C165258	Cellosaurus Disease Terminology	C3021	Generalized Epilepsy	Generalized Epilepsy		A chronic condition characterized by recurrent generalized seizures.
C165258	Cellosaurus Disease Terminology	C192201	Generalized Epilepsy with Febrile Seizures Plus, Type 9	Generalized Epilepsy with Febrile Seizures Plus, Type 9		A subtype of generalized epilepsy with febrile seizures plus caused by mutation(s) in the STX1B gene, encoding syntaxin-1B.
C165258	Cellosaurus Disease Terminology	C202121	Generalized Pustular Psoriasis	Generalized Pustular Psoriasis		A genetically heterogenous autoinflammatory condition characterized by sterile non-follicular pustules over wide areas of the body. It is a rare and severe form of psoriasis, and may result in death if not treated.
C165258	Cellosaurus Disease Terminology	C131816	Generalized Thyroid Hormone Resistance	Generalized Thyroid Hormone Resistance		Decreased response to thyroid hormones in peripheral tissues and in the pituitary gland.
C165258	Cellosaurus Disease Terminology	C140264	Genetic Macular Dystrophy	Genetic Macular Dystrophy		Macular dystrophy that is related to a change in a gene.
C165258	Cellosaurus Disease Terminology	C134561	Gerbil Fibroma	Gerbil Fibroma		Fibroma that occurs in a gerbil.
C165258	Cellosaurus Disease Terminology	C134772	Gerbil Fibrosarcoma	Gerbil Fibrosarcoma		Fibrosarcoma that occurs in a gerbil.
C165258	Cellosaurus Disease Terminology	C134773	Gerbil Melanoma	Gerbil Melanoma		Melanoma that occurs in a gerbil.
C165258	Cellosaurus Disease Terminology	C84727	Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker Disease		A very rare and fatal disorder of spongiform encephalopathy usually caused by mutations of the prion protein (PRNP) gene. It is characterized by the accumulation of amyloid in the brain. Signs and symptoms include lack of motor coordination, unsteady gait, and difficulty walking. As the disease progresses, patients develop speech difficulties and dementia.
C165258	Cellosaurus Disease Terminology	C4646	Gestational Choriocarcinoma	Gestational Choriocarcinoma		A rare, highly malignant epithelial tumor that develops from a hydatidiform mole (50%), following abortion (25%), or during normal pregnancy (22%). It is characterized by the presence of invasive and anaplastic trophoblastic tissue composed of intermediate trophoblastic cells, cytotrophoblasts and syncytiotrophoblasts, abundant vascularity, and secretion of human chorionic gonadotropin. Because of rapid growth and a high propensity for hemorrhage, this neoplasm often constitutes a medical emergency.
C165258	Cellosaurus Disease Terminology	C84728	Giant Axonal Neuropathy	Giant Axonal Neuropathy		A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs.
C165258	Cellosaurus Disease Terminology	C4325	Giant Cell Glioblastoma	Giant Cell Glioblastoma		A rare histological variant of glioblastoma with a predominance of bizarre, multinucleated giant cells, an occasionally abundant stromal reticulin network, and a high frequency of TP53 mutations. (WHO)
C165258	Cellosaurus Disease Terminology	C121932	Giant Cell Tumor of Bone	Giant Cell Tumor of Bone	Giant Cell Tumor of the Bone	A benign but locally aggressive tumor that arises from the bone and is composed of mononuclear cells admixed with macrophages and osteoclast-like giant cells. It usually arises from the ends of long bones or the vertebrae. Clinical presentation includes pain, edema, and decreased range of motion in the affected joint.
C165258	Cellosaurus Disease Terminology	C4234	Giant Congenital Nevus	Giant Congenital Melanocytic Nevus	Bathing Trunk Nevus \|\| Giant Congenital Nevus \|\| Giant Pigmented Nevus of Skin \|\| Giant Pigmented Nevus of the Skin	A congenital melanocytic nevus that measures more than 200 mm or is unresectable. It usually presents as a dark brown to black hairy lesion. Morphologically, it is characterized by the presence of a compound or intradermal nevus. There is an increased risk of malignant transformation to melanoma, rhabdomyosarcoma, and poorly differentiated malignant tumors.
C165258	Cellosaurus Disease Terminology	C134774	Gibbon Lymphosarcoma	Gibbon Lymphosarcoma		Lymphosarcoma that occurs in a gibbon.
C165258	Cellosaurus Disease Terminology	C129289	Gingival Spindle Cell Carcinoma	Gingival Spindle Cell Carcinoma		A poorly differentiated squamous cell carcinoma that arises from the gingiva. It is characterized by the presence of malignant pleomorphic spindle cells.
C165258	Cellosaurus Disease Terminology	C129857	Gingival Squamous Cell Carcinoma	Gingival Squamous Cell Carcinoma	Gingival SCC	A squamous cell carcinoma that arises from the gingival mucosa. It presents as an ulcerated lesion or exophytic mass. The prognosis is usually poor.
C165258	Cellosaurus Disease Terminology	C84730	Gitelman Syndrome	Gitelman Syndrome		An inherited disorder caused by mutations in the SLC12A3 gene. It is characterized by deficient reabsorption of electrolytes in the distal convoluted tubules of the kidneys. It results in hypochloremic metabolic alkalosis, hypokalemia, hypocalciuria, and hypomagnesemia.
C165258	Cellosaurus Disease Terminology	C26782	Glaucoma	Glaucoma		Increased pressure in the eyeball due to obstruction of the outflow of aqueous humor.
C165258	Cellosaurus Disease Terminology	C3058	Glioblastoma	Glioblastoma	GBM (Glioblastoma)	The most malignant astrocytic tumor (WHO grade 4). It is composed of poorly differentiated neoplastic astrocytes and is characterized by the presence of cellular polymorphism, nuclear atypia, brisk mitotic activity, vascular thrombosis, microvascular proliferation, and necrosis. It typically affects adults and is preferentially located in the cerebral hemispheres. (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C92550	Glioneuronal Tumor with Neuropil-Like Islands	Glioneuronal Tumor with Neuropil-Like Islands		A rare, WHO grade II or III infiltrating astrocytoma characterized by the presence of sharply demarcated foci, composed of a neuropil-like matrix.
C165258	Cellosaurus Disease Terminology	C3796	Gliosarcoma	Gliosarcoma	Glioblastoma with a Sarcomatous Component	A rare histological variant of glioblastoma (WHO grade IV) characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation (WHO).
C165258	Cellosaurus Disease Terminology	C158500	Globozoospermia	Globozoospermia		A rare but severe cause of male infertility. It is characterized by the presence of 100% round headed spermatozoa and lack of acrosomes.
C165258	Cellosaurus Disease Terminology	C187984	Glomerulopathy with Fibronectin Deposits-2	Glomerulopathy with Fibronectin Deposits-2		An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the FN1 gene, encoding fibronectin. It is characterized by microscopic hematuria, proteinuria and hypertension resulting in end-stage renal disease.
C165258	Cellosaurus Disease Terminology	C3060	Glomus Tumor	Glomus Tumor	Glomus Neoplasm	A rare benign or malignant mesenchymal neoplasm arising from cells that resemble the modified smooth muscle cells of the glomus body. The majority of glomus tumors occur in the distal extremities.
C165258	Cellosaurus Disease Terminology	C126809	Glucocorticoid Resistance	Glucocorticoid Resistance		An autosomal dominant condition due to mutation(s) in the NR3C1 gene, encoding the glucocorticoid receptor, resulting in decreased receptor affinity to glucocorticoids. Compensatory activation of the hypothalamic- pituitary-adrenal (HPA) axis results in increased mineralocorticoid and androgen production; clinical manifestations of glucocorticoid deficiency are rare.
C165258	Cellosaurus Disease Terminology	C129741	Glucokinase-Associated Diabetes Mellitus	Glucokinase-Associated Diabetes Mellitus		Monogenic diabetes caused by inactivating mutation(s) in the GCK gene, encoding glucokinase. Heterozygous GCK mutations may manifest as mild hyperglycemia, which is not progressive, and usually requires no treatment. Homozygous GCK mutations result in permanent neonatal diabetes.
C165258	Cellosaurus Disease Terminology	C98933	Glucose-6-Phosphate Dehydrogenase Deficiency	Glucose-6-Phosphate Dehydrogenase Deficiency	G6PD Deficiency	An X-linked recessive inherited disorder caused by mutations in the G6PD gene. It is characterized by the absence or presence of very low levels of glucose-6-phosphate dehydrogenase. Patients develop hemolytic anemia usually in response to infection or exposure to drugs.
C165258	Cellosaurus Disease Terminology	C168599	GLUT1 Deficiency Syndrome 1	GLUT1 Deficiency Syndrome 1		A genetic condition usually inherited in an autosomal dominant pattern. It is caused by mutation(s) in the SCL2A1 gene, encoding solute carrier family 2, facilitated glucose transporter member 1. It is characterized by wide phenotypic variability, but may include infantile onset epileptic encephalopathy with delayed development, acquired microcephaly, motor dysfunction, and spasticity.
C165258	Cellosaurus Disease Terminology	C99101	Glutaric Acidemia Type 1	Glutaric Acidemia Type 1		A rare autosomal recessive inherited metabolic disorder caused by deficiency of the enzyme glutaryl-CoA dehydrogenase. It is characterized by abnormalities in the metabolism of lysine, hydroxylysine, and tryptophan that result in the accumulation and urinary excretion of glutaric acid. Patients present with brain atrophy, microcephaly, and acute dystonia.
C165258	Cellosaurus Disease Terminology	C128193	Glutathione Synthetase Deficiency	Glutathione Synthetase Deficiency	5-Oxoprolinuria \|\| Pyroglutamic Aciduria	An autosomal recessive genetic disorder caused by mutation(s) in the GSS gene, encoding glutathione synthetase. Mutation(s) in the same gene is causative in hemolytic anemia due to glutathione synthetase deficiency, with the more severe condition causing elevated urinary concentrations of 5-oxoproline and central nervous system damage in addition to hemolytic anemia.
C165258	Cellosaurus Disease Terminology	C84937	Glycine Encephalopathy	Glycine Encephalopathy	Nonketotic Hyperglycinemia	An autosomal recessive metabolic disorder caused by mutations in the AMT and GLDC genes. It is characterized by abnormal accumulation of glycine in the brain and other tissues. Signs and symptoms include lethargy, feeding difficulties, hypotonia, intellectual deformities, and seizures.
C165258	Cellosaurus Disease Terminology	C162398	Glycogen Storage Disease Type Ia	Glycogen Storage Disease Type Ia	Glucose-6 Phosphatase Deficiency \|\| Hepatorenal Glycogenosis \|\| Von Gierke Disease	An autosomal recessive condition caused by mutation(s) in the G6PC gene, encoding glucose-6-phosphatase. It is characterized by accumulation of glycogen in the kidneys and liver resulting in hypoglycemia, hyperlipidemia, and hyperuricemia. Adults may have a high incidence of hepatic adenomas.
C165258	Cellosaurus Disease Terminology	C122661	Glycogen Storage Disease Type Ib	Glycogen Storage Disease Type Ib	Glycogen Storage Disease Type I non-a	Glycogen storage disease type I that is caused by mutations in the SLC37A4 gene. It is characterized by a deficiency of glucose-6-phosphate translocase. It may be associated with neutropenia resulting in recurrent bacterial infections, inflammatory bowel disease, gingivitis, periodontal disease, and mouth ulcers.
C165258	Cellosaurus Disease Terminology	C84734	Glycogen Storage Disease Type II	Glycogen Storage Disease Type II		An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the enzyme acid alpha-glucosidase. It results in the abnormal accumulation of glycogen in the heart, skeletal muscles, liver, and nervous system.
C165258	Cellosaurus Disease Terminology	C84735	Glycogen Storage Disease Type IIb	Glycogen Storage Disease Type IIb	Danon Disease	A genetic metabolic disorder causing hypertrophic cardiomyopathy. Mutations of the LAMP2 gene have been reported in association with this disease.
C165258	Cellosaurus Disease Terminology	C84736	Glycogen Storage Disease Type III	Glycogen Storage Disease Type III		An autosomal recessive inherited type of glycogen storage disease caused by deficiency of the glycogen debranching enzyme. It results in the accumulation of structurally abnormal glycogen in the heart, skeletal muscles, and/or liver.
C165258	Cellosaurus Disease Terminology	C84737	Glycogen Storage Disease Type IV	Glycogen Storage Disease Type IV		A rare inherited type of glycogen storage disease caused by deficiency of amylo-1,4-1,6 transglucosidase.
C165258	Cellosaurus Disease Terminology	C122662	Glycogen Storage Disease Type IX	Glycogen Storage Disease Type IX	Phosphorylase Kinase Deficiency	Glycogen storage disease usually inherited in an X-linked recessive pattern. It is characterized by a deficiency of hepatic phosphorylase kinase.
C165258	Cellosaurus Disease Terminology	C84738	Glycogen Storage Disease Type V	Glycogen Storage Disease Type V		An autosomal recessive inherited type of glycogen storage disease caused by deficiency of myophosphorylase. It results in myalgias, muscle cramping and stiffness, and exercise intolerance.
C165258	Cellosaurus Disease Terminology	C126875	Glycogen Storage Disease Type VI	Glycogen Storage Disease Type VI		An autosomal recessive sub-type of glycogen storage disease caused by mutation(s) in the PYGL gene, encoding glycogen phosphorylase, liver form. The condition is characterized by mild-moderate hypoglycemia, growth retardation and hepatomegaly.
C165258	Cellosaurus Disease Terminology	C118437	Glycogen Storage Disease Type VII	Glycogen Storage Disease Type VII	GSD7 \|\| GSDVII \|\| Glycogen Storage Disease VII \|\| Muscle Phosphofructokinase Deficiency \|\| PFKM Deficiency \|\| Phosphofructokinase Deficiency \|\| Tarui Disease	A rare, autosomal recessive inherited metabolic disorder caused by mutation in the PFKM gene. It results in the deficiency of the M subunit of the phosphofructokinase enzyme. It is characterized by the presence of muscle pain and weakness and sometimes rhabdomyolysis with myoglobinuria, following exercise. Affected infants develop muscle weakness. Patients with the hemolytic form of this disorder develop hemolytic anemia without signs or symptoms of muscle pain and weakness.
C165258	Cellosaurus Disease Terminology	C168998	Glycogen Storage Disease Type XI	Glycogen Storage Disease Type XI	Fanconi-Bickel Syndrome \|\| Glycogen Storage Disease Due to GLUT2 Deficiency	Glycogen storage disease caused by mutation(s) in the SLC2A2 gene, encoding solute carrier family 2, facilitated glucose transporter member 2. It is characterized by marked proximal renal tubular dysfunction and hepatorenal glycogen accumulation.
C165258	Cellosaurus Disease Terminology	C84739	GM1 Gangliosidosis	GM1 Gangliosidosis		An autosomal recessive lysosomal storage disease characterized by deficiency of the enzyme acid beta-galactosidase, resulting in the accumulation of acid lipids in the nervous system. Signs and symptoms include neurologic disturbances, muscle atrophy, dystonia, eye abnormalities, and formation of angiokeratomas.
C165258	Cellosaurus Disease Terminology	C133084	GM2-Gangliosidosis, AB Variant	GM2-Gangliosidosis, AB Variant	Tay-Sachs Disease, AB Variant	An autosomal recessive lysosomal storage disease caused by mutation(s) in the GM2A gene, encoding ganglioside GM2 activator. It is characterized by GM2-ganglioside accumulation in tissues resulting in hypotonia, cherry-red macular spots, and neurocognitive dysfunction.
C165258	Cellosaurus Disease Terminology	C198601	Goat Melanoma	Goat Melanoma		Melanoma occurring in a goat.
C165258	Cellosaurus Disease Terminology	C84740	Goldenhar Syndrome	Goldenhar Syndrome		A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.
C165258	Cellosaurus Disease Terminology	C134562	Goldfish Erythrophoroma	Goldfish Erythrophoroma		A red-pigmented tumor that occurs in a goldfish.
C165258	Cellosaurus Disease Terminology	C61420	Gonadal Dysgenesis	Gonadal Dysgenesis		A congenital disorder characterized by the presence of extremely hypoplastic gonads preventing the development of secondary sex characteristics.
C165258	Cellosaurus Disease Terminology	C113217	Gonadotropin-Dependent Precocious Puberty	Gonadotropin-Dependent Precocious Puberty	Central Precocious Puberty	Premature onset of sexual development triggered by the premature secretion of gonadotropins.
C165258	Cellosaurus Disease Terminology	C205640	Gordon Holmes Syndrome	Gordon Holmes Syndrome	Cerebellar Ataxia-Hypogonadism Syndrome	An autosomal recessive neurodegenerative condition caused by mutation(s) in the RNF216 gene, encoding E3 ubiquitin-protein ligase RNF216. It is characterized by dementia and movement disorders. This phenotype is associated with hypogonadotropic hypogonadism.
C165258	Cellosaurus Disease Terminology	C34650	Gout	Gout		A condition characterized by painful swelling of the joints, which is caused by deposition of urate crystals.
C165258	Cellosaurus Disease Terminology	C3465	Grade 1 Follicular Lymphoma	Grade 1 Follicular Lymphoma	Follicular Lymphoma Grade 1 \|\| Grade I Follicular Lymphoma \|\| WHO Follicular Lymphoma Histologic Grade 1	A follicular lymphoma which contains up to 5 centroblasts per 40X high-power microscopic field.
C165258	Cellosaurus Disease Terminology	C35815	Granulocytic Sarcoma	Granulocytic Sarcoma		A tumor mass composed of myeloblasts, neutrophils and neutrophil precursors. Granulocytic sarcoma is the most common type of myeloid sarcoma. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C3064	Granuloma	Granuloma	Granulomatous Lesion	An inflammatory reaction usually caused by infectious organisms, foreign bodies, or cholesterol deposits. It is characterized by the presence of epithelioid histiocytes and chronic inflammation.
C165258	Cellosaurus Disease Terminology	C3444	Granulomatosis with Polyangiitis	Granulomatosis with Polyangiitis	Wegener Granulomatosis \|\| Wegener's Granulomatosis	A rare, autoimmune, systemic medium and small size vasculitis. It is characterized by the formation of necrotizing granulomas in the respiratory tract, necrotizing angiitis, and glomerulonephritis.
C165258	Cellosaurus Disease Terminology	C84741	Gray Platelet Syndrome	Gray Platelet Syndrome		A rare inherited bleeding disorder characterized by the decrease or absence of the platelet alpha-granules and their proteins in the peripheral blood platelets.
C165258	Cellosaurus Disease Terminology	C35255	Greig Syndrome	Greig Syndrome	Greig Cephalopolysyndactyly Syndrome \|\| Greig Cephalosyndactyly Syndrome \|\| Greig's Syndrome	An autosomal dominant genetic disorder caused by mutations in the GLI3 gene. It is characterized by physical abnormalities of the fingers and/or toes (extra fingers and/ or toes, fusion of the fingers and/or toes), large size head with prominent forehead and hypertelorism.
C165258	Cellosaurus Disease Terminology	C129867	Growth Hormone Insensitivity Syndrome	Growth Hormone Insensitivity Syndrome	Growth Hormone Insensitivity Syndromes	A group of inherited syndromes in which there is impaired growth hormone signaling, despite normal or increased growth hormone concentrations. The syndromes are characterized by some or all of the following: prenatal and/or postnatal growth failure, immature facial features, microcephaly, neurocognitive deficiencies, sensorineural hearing loss, immune dysregulation, and delayed puberty.
C165258	Cellosaurus Disease Terminology	C141442	GTP Cyclohydrolase I Deficiency	GTP Cyclohydrolase I Deficiency	GTPCH Deficiency	An autosomal recessive condition caused by mutation(s) in the GCH1 gene, encoding GTP cyclohydrolase 1. It is characterized by hyperphenylalaninemia and GTP cyclohydrolase 1-deficient dopa-responsive dystonia.
C165258	Cellosaurus Disease Terminology	C116345	Guillain-Barre Syndrome	Guillain-Barre Syndrome	Guillain Barre Syndrome \|\| Guillain Barr� Syndrome \|\| Guillain-Barr� Syndrome	A rapidly progressive autoimmune disorder of the peripheral nervous system characterized by limb paresthesias, areflexia, and generalized muscle weakness or paralysis that often begins in the legs and spreads to the arms, torso, and face.
C165258	Cellosaurus Disease Terminology	C134563	Guinea Pig Colon Adenocarcinoma	Guinea Pig Colon Adenocarcinoma		Adenocarcinoma that occurs in a guinea pig.
C165258	Cellosaurus Disease Terminology	C134564	Guinea Pig Leukemia	Guinea Pig Leukemia		Leukemia that occurs in a guinea pig.
C165258	Cellosaurus Disease Terminology	C3073	Gynecomastia	Gynecomastia		A non-neoplastic focal or diffuse proliferation of glandular tissue of breast in males.
C165258	Cellosaurus Disease Terminology	C84744	Gyrate Atrophy	Gyrate Atrophy		A rare autosomal recessive inherited disorder caused by mutations in the OAT gene. It is characterized by progressive atrophy of the retina and choroid, leading to loss of vision and blindness.
C165258	Cellosaurus Disease Terminology	C7402	Hairy Cell Leukemia	Hairy Cell Leukemia	Leukemic Reticuloendotheliosis	A neoplasm of small B-lymphocytes with "hairy" projections in bone marrow, spleen, and peripheral blood. Most patients present with splenomegaly and pancytopenia. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C7401	Hairy Cell Leukemia Variant	Hairy Cell Leukemia Variant	Hairy Cell Leukemia-Variant \|\| Prolymphocytic Variant of Hairy Cell Leukemia \|\| Splenic B-Cell Lymphoma/Leukemia with Prominent Nucleoli	An indolent chronic B-cell leukemia resembling classic hairy cell leukemia but shows variant cytologic, hematologic, and immunophenotypic features and is resistant to the conventional therapy applied to hairy cell leukemia. Biologically, it is not related to hairy cell leukemia.
C165258	Cellosaurus Disease Terminology	C134990	Hamster Adrenal Carcinoma	Hamster Adrenal Carcinoma		Carcinoma arising from the adrenal gland and occurring in a hamster.
C165258	Cellosaurus Disease Terminology	C134565	Hamster Buccal Pouch Carcinoma	Hamster Buccal Pouch Carcinoma		Buccal pouch carcinoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134566	Hamster Cholangiocarcinoma	Hamster Cholangiocarcinoma		Cholangiocarcinoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134957	Hamster Chondrosarcoma	Hamster Chondrosarcoma		A chondrosarcoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134567	Hamster Ductus Deferens Leiomyosarcoma	Hamster Ductus Deferens Leiomyosarcoma		Ductus deferens leiomyosarcoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134992	Hamster Fibrosarcoma	Hamster Fibrosarcoma		Fibrosarcoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134946	Hamster Insulinoma	Hamster Insulinoma		Insulinoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134775	Hamster Kidney Tumor	Hamster Kidney Tumor		A kidney neoplasm that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134991	Hamster Lung Carcinoma	Hamster Lung Carcinoma		Carcinoma arising from the lung and occurring in a hamster.
C165258	Cellosaurus Disease Terminology	C134776	Hamster Lymphoma	Hamster Lymphoma		Lymphoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134777	Hamster Lymphosarcoma	Hamster Lymphosarcoma		Lymphosarcoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C135723	Hamster Mammary Carcinoma	Hamster Mammary Carcinoma		Carcinoma of the mammary gland that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C133089	Hamster Melanoma	Hamster Melanoma		Melanoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134988	Hamster Neoplasm	Hamster Neoplasm		A neoplasm occurring in a hamster.
C165258	Cellosaurus Disease Terminology	C133090	Hamster Pancreatic Ductal Adenocarcinoma	Hamster Pancreatic Ductal Adenocarcinoma		Pancreatic ductal carcinoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C134993	Hamster Pituitary Carcinoma	Hamster Pituitary Carcinoma		Carcinoma arising in the pituitary gland and occurring in a hamster.
C165258	Cellosaurus Disease Terminology	C134994	Hamster Small Intestinal Neoplasm	Hamster Small Intestinal Neoplasm		A neoplasm that occurs in the small intestine of a hamster.
C165258	Cellosaurus Disease Terminology	C134568	Hamster Uterine Leiomyosarcoma	Hamster Uterine Leiomyosarcoma		Uterine leiomyosarcoma that occurs in a hamster.
C165258	Cellosaurus Disease Terminology	C6214	Hard Palate Mucoepidermoid Carcinoma	Hard Palate Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma of Hard Palate \|\| Mucoepidermoid Carcinoma of the Hard Palate	A mucoepidermoid carcinoma arising from the minor salivary glands in the hard palate.
C165258	Cellosaurus Disease Terminology	C126559	Hard Skin Syndrome Parana Type	Hard Skin Syndrome Parana Type	Parana Hard-Skin Syndrome	A rare disorder characterized by rigid, thick skin that covers the entire body and affects movements. The movement of the chest and abdomen is severely restricted. Affected individuals develop respiratory insufficiency which may lead to death.
C165258	Cellosaurus Disease Terminology	C122660	Hardcastle's Syndrome	Hardcastle's Syndrome	Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma	A rare, autosomal dominant inherited dysplasia of the long bones, characterized by symmetrical diaphyseal medullary stenosis, bone infarctions, pathologic fractures, and a high risk of development of malignant fibrous histiocytoma.
C165258	Cellosaurus Disease Terminology	C98934	Harlequin Ichthyosis	Harlequin Ichthyosis		A very rare and usually lethal autosomal recessive inherited disorder of the skin caused by mutations in the ABCA12 gene. It is characterized by the presence of hard and thick skin. There are diamond-like plates formed in the skin which are separated by fissures.
C165258	Cellosaurus Disease Terminology	C84748	Hartnup Disease	Hartnup Disease		An autosomal recessive inherited metabolic disorder caused by mutations in the SLC6A19 gene. It is characterized by defective absorption of neutral amino acids. Signs and symptoms include skin eruptions reminiscent of pellagra, aminoaciduria, and cerebellar ataxia.
C165258	Cellosaurus Disease Terminology	C27191	Hashimoto Thyroiditis	Hashimoto Thyroiditis	Autoimmune Thyroiditis \|\| Chronic Lymphocytic Thyroiditis \|\| Hashimoto Thyroiditis \|\| Hashimoto's Thyroiditis	An autoimmune disorder caused by the production of autoantibodies against thyroid tissue. There is progressive destruction of the thyroid follicles leading to hypothyroidism.
C165258	Cellosaurus Disease Terminology	C37290	Head and Neck Basaloid Carcinoma	Head and Neck Basaloid Squamous Cell Carcinoma	Basaloid Squamous Cell Carcinoma of Head and Neck \|\| Basaloid Squamous Cell Carcinoma of the Head and Neck \|\| Head and Neck Basaloid Carcinoma	A high-grade, aggressive variant of squamous cell carcinoma that arises from the head and neck region. The most common sites of origin are pyriform sinus, epiglottis, and base of tongue. It is characterized by the presence of small malignant cells with hyperchromatic nuclei and scant amount of cytoplasm forming lobules with peripheral palisading. Comedonecrosis may be present.
C165258	Cellosaurus Disease Terminology	C34447	Head and Neck Squamous Cell Carcinoma	Head and Neck Squamous Cell Carcinoma	Squamous Cell Carcinoma of Head and Neck \|\| Squamous Cell Carcinoma of the Head and Neck	A squamous cell carcinoma that arises from any of the following anatomic sites: lip and oral cavity, nasal cavity, paranasal sinuses, pharynx, larynx, and salivary glands.
C165258	Cellosaurus Disease Terminology	C3079	Heart Disorder	Heart Disorder	Heart Disease	A non-neoplastic or neoplastic disorder that affects the heart and/or the pericardium. Representative examples include endocarditis, pericarditis, atrial myxoma, cardiac myeloid sarcoma, and pericardial malignant mesothelioma.
C165258	Cellosaurus Disease Terminology	C22931	Hemangioendothelioma of the Mouse Blood Vessel, Malignant	Hemangioendothelioma of the Mouse Blood Vessel, Malignant
C165258	Cellosaurus Disease Terminology	C134958	Hemangioendothelioma of the Mouse Thyroid Gland	Hemangioendothelioma of the Mouse Thyroid Gland		A neoplasm that arises from vascular endothelium and occurs in the thyroid gland of a mouse.
C165258	Cellosaurus Disease Terminology	C3085	Hemangioma	Hemangioma	Angioma \|\| Benign Angioma \|\| Benign Hemangioma	A benign vascular lesion characterized by the formation of capillary-sized or cavernous vascular channels.
C165258	Cellosaurus Disease Terminology	C21833	Hemangioma of the Mouse Skin	Hemangioma of the Mouse Skin
C165258	Cellosaurus Disease Terminology	C3087	Hemangiopericytoma			An antiquated term that refers to benign or malignant mesenchymal neoplasms characterized by the presence of neoplastic spindle-shaped to round cells arranged around thin-walled branching vascular spaces.
C165258	Cellosaurus Disease Terminology	C177779	Hemimegalencephaly	Hemimegalencephaly	Unilateral Megalencephaly	A rare congenital condition in which one half of the brain is abnormally large. It is characterized by developmental delay and severe seizures.
C165258	Cellosaurus Disease Terminology	C103920	Hemoglobin Barts	Hemoglobin Barts	Hemoglobin Bart's Hydrops	A severe and rare form of alpha thalassemia characterized by the absence of alpha globin chains. It results in hydrops fetalis, severe anemia, hepatosplenomegaly, heart defects, and genitourinary abnormalities. It leads to death in utero or shortly thereafter.
C165258	Cellosaurus Disease Terminology	C141366	Hemoglobin Lepore Syndrome	Hemoglobin Lepore Syndrome		A beta thalassemia resulting from an unequal crossover/recombination event involving portions of the delta and beta globin genes, resulting in underproduction of the abnormal delta-beta globin.
C165258	Cellosaurus Disease Terminology	C3093	Hemophilia	Hemophilia		A deficiency or abnormality of a blood coagulation factor characterized by the tendency to hemorrhage. Hemophilia is typically a hereditary disorder but, rarely, may be acquired. Inherited coagulation factor-deficient hemophilias include hemophilia A or classic hemophilia (hereditary factor VIII deficiency) hemophilia B or Christmas disease (hereditary factor IX deficiency), and hemophilia C (hereditary factor XI deficiency). Factor VIII inhibitors may occur spontaneously as autoantibodies, resulting in acquired hemophilia known as acquired factor VIII deficiency. Approximately 10% of patients with acquired hemophilia have an underlying malignancy.
C165258	Cellosaurus Disease Terminology	C27146	Hemophilia A	Hemophilia A	Hereditary Factor VIII Deficiency	An inherited deficiency of coagulation factor VIII characterized by the tendency to spontaneous or exaggerated post-traumatic hemorrhage. Inherited as an X-linked recessive disease, hemophilia A is the most common hemophilia, occurring in approximately 1 in 10,000 male births.
C165258	Cellosaurus Disease Terminology	C26721	Hemophilia B	Hemophilia B	Factor IX Deficiency	An X-linked inherited bleeding disorder caused by deficiency of the coagulation factor IX.
C165258	Cellosaurus Disease Terminology	C150596	Hepatic Steatosis	Hepatic Steatosis	Fatty Liver Change \|\| Liver Steatosis	A morphologic finding indicating intracytoplasmic fat accumulation in the liver parenchyma.
C165258	Cellosaurus Disease Terminology	C3096	Hepatitis A Infection	Hepatitis A Infection	Acute Hepatitis A \|\| Hepatitis A	Acute inflammation of the liver caused by the hepatitis A virus. It is highly contagious and usually contracted through close contact with an infected individual or their feces, contaminated food or water.
C165258	Cellosaurus Disease Terminology	C3098	Hepatitis C Infection	Hepatitis C Infection	HCV Infection \|\| Hepatitis C \|\| Hepatitis C Virus Infection	A viral infection caused by the hepatitis C virus.
C165258	Cellosaurus Disease Terminology	C3728	Hepatoblastoma	Hepatoblastoma	Pediatric Embryonal Hepatoma \|\| Pediatric Hepatoblastoma	A malignant embryonal neoplasm that arises from the liver. It occurs almost exclusively in infants, although isolated cases in older children and adults have been reported. Microscopically, it consists of either epithelial or epithelial and mesenchymal components.
C165258	Cellosaurus Disease Terminology	C3099	Hepatocellular Carcinoma	Hepatocellular Carcinoma	Carcinoma of Liver Cells \|\| Carcinoma of the Liver Cells \|\| Hepatoma \|\| Liver Cell Cancer (Hepatocellular Carcinoma) \|\| Liver Cell Carcinoma \|\| Primary Carcinoma of Liver Cells \|\| Primary Carcinoma of the Liver Cells	A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation.
C165258	Cellosaurus Disease Terminology	C38756	Hepatocellular Carcinoma of the Mouse	Hepatocellular Carcinoma of the Mouse
C165258	Cellosaurus Disease Terminology	C129742	Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes	Hepatocyte Nuclear Factor 1-Alpha-Associated Monogenic Diabetes		Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1A, encoding hepatocyte nuclear factor 1-alpha.
C165258	Cellosaurus Disease Terminology	C129744	Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes	Hepatocyte Nuclear Factor 4-Alpha Associated Monogenic Diabetes		Monogenic diabetes caused by inactivating mutation(s) in the gene HNF4A, encoding hepatocyte nuclear factor 4-alpha.
C165258	Cellosaurus Disease Terminology	C84754	Hepatoerythropoietic Porphyria	Hepatoerythropoietic Porphyria		A very rare form of porphyria cutanea tarda. It is characterized by deficiency of the enzyme uroporphyrinogen decarboxylase. Signs and symptoms appear early in childhood and include extreme photosensitivity in the sun exposed areas of the skin with blistering and scar formation.
C165258	Cellosaurus Disease Terminology	C84756	Hepatolenticular Degeneration	Hepatolenticular Degeneration	Wilson Disease \|\| Wilson's Disease	A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
C165258	Cellosaurus Disease Terminology	C8459	Hepatosplenic T-Cell Lymphoma	Hepatosplenic T-Cell Lymphoma	Hepatosplenic Gamma/Delta T-Cell Lymphoma	An extranodal, mature T-cell non-Hodgkin lymphoma that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. It is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids. A similar infiltrating pattern is also present in the spleen and bone marrow that are usually involved at the time of the diagnosis.
C165258	Cellosaurus Disease Terminology	C84758	Hereditary Angioedema	Hereditary Angioedema		Autosomal dominant inherited disorder characterized by abnormalities of C1 inhibitor. Patients present with swelling of the skin, subcutaneous tissues, and mucosa sites.
C165258	Cellosaurus Disease Terminology	C140268	Hereditary Cerebellar Ataxia	Hereditary Cerebellar Ataxia		Cerebellar ataxia that is transmitted from parent to child.
C165258	Cellosaurus Disease Terminology	C84759	Hereditary Coproporphyria	Hereditary Coproporphyria		An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations.
C165258	Cellosaurus Disease Terminology	C26799	Hereditary Factor II Deficiency	Hereditary Factor II Deficiency	Hereditary Hypoprothrombinemia \|\| Hereditary Prothrombin Deficiency	A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of prothrombin, resulting in bleeding.
C165258	Cellosaurus Disease Terminology	C98938	Hereditary Factor V Deficiency	Hereditary Factor V Deficiency	Owren Disease	A very rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor V, resulting in bleeding.
C165258	Cellosaurus Disease Terminology	C98939	Hereditary Factor VII Deficiency	Hereditary Factor VII Deficiency		A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor VII, resulting in bleeding.
C165258	Cellosaurus Disease Terminology	C98940	Hereditary Factor X Deficiency	Hereditary Factor X Deficiency	Stuart-Prower Factor Deficiency	A rare autosomal recessive inherited blood coagulation disorder characterized by deficiency of factor X, resulting in bleeding.
C165258	Cellosaurus Disease Terminology	C36107	Hereditary Female Breast Carcinoma	Hereditary Female Breast Carcinoma	Familial Female Breast Carcinoma	Breast carcinoma that has developed in female relatives of patients with history of breast carcinoma.
C165258	Cellosaurus Disease Terminology	C156424	Hereditary Folate Malabsorption	Hereditary Folate Malabsorption		An autosomal recessive condition caused by mutation(s) in the SCL46A1 gene, encoding proton-coupled folate transporter. It is characterized by low concentrations of folate resulting in megaloblastic anemia, immune deficiency, and neurologic deficits.
C165258	Cellosaurus Disease Terminology	C84720	Hereditary Fructose Intolerance	Hereditary Fructose Intolerance	Fructose Intolerance \|\| Fructose-1,6-Bisphosphate Aldolase B Deficiency	A genetic disorder characterized by the absence of the enzyme aldolase-B from the liver. This enzyme is essential for the metabolism of fructose. Signs and symptoms from fructose ingestion are evident in infancy and include vomiting, abdominal pain and hypoglycemia. Long term complications include hepatic and renal failure.
C165258	Cellosaurus Disease Terminology	C43295	Hereditary Gastric Diffuse Adenocarcinoma	Hereditary Gastric Diffuse Adenocarcinoma	Hereditary Diffuse Gastric Adenocarcinoma \|\| Hereditary Diffuse Gastric Cancer	An autosomal dominant inherited adenocarcinoma that arises from the gastric mucosa and is characterized by the presence of poorly cohesive malignant cells and absence of glandular formations.
C165258	Cellosaurus Disease Terminology	C5350	Hereditary Glomangioma	Hereditary Glomuvenous Malformation	Familial Glomangioma \|\| Familial Glomuvenous Malformation \|\| Hereditary Glomangioma	Glomuvenous malformation inherited in an autosomal dominant pattern and caused by mutations in the GLMN gene encoding glomulin.
C165258	Cellosaurus Disease Terminology	C35064	Hereditary Hemorrhagic Telangiectasia	Hereditary Hemorrhagic Telangiectasia	Osler-Weber-Rendu Disease \|\| Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler	An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.
C165258	Cellosaurus Disease Terminology	C51302	Hereditary Leiomyomatosis and Renal Cell Carcinoma	Hereditary Leiomyomatosis and Renal Cell Carcinoma	FH Deficiency \|\| Hereditary Leiomyomatosis and Renal Cell Cancer \|\| Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome	An autosomal dominant inherited syndrome caused by germline mutations in the FH gene. It is characterized by predisposition to renal cell carcinoma, leiomyomas of the skin and uterus, and leiomyosarcoma of the uterus.
C165258	Cellosaurus Disease Terminology	C8498	Hereditary Melanoma	Hereditary Melanoma	Familial Cutaneous Melanoma \|\| Familial Melanoma \|\| Hereditary Cutaneous Melanoma \|\| Melanoma, Familial	A melanoma defined by the presence of multiple cases of cutaneous melanoma among blood-relatives on the same side of the family. It is caused by germline mutations in the CDKN2A or CDK4 genes. It is associated with an increased risk of pancreatic cancer in a subset of CDKN2A families (WHO, 2006).
C165258	Cellosaurus Disease Terminology	C128801	Hereditary Melanoma with CDKN2A Mutation	Hereditary Melanoma with CDKN2A Mutation	Cutaneous Malignant Melanoma 2 \|\| Familial Cutaneous Melanoma with CDKN2A Gene Mutation \|\| Familial Cutaneous Melanoma with CDKN2A Mutation \|\| Familial Melanoma with CDKN2A Gene Mutation \|\| Familial Melanoma with CDKN2A Mutation \|\| Hereditary Cutaneous Melanoma with CDKN2A Gene Mutation \|\| Hereditary Cutaneous Melanoma with CDKN2A Mutation \|\| Hereditary Melanoma with CDKN2A Gene Mutation	A hereditary cutaneous melanoma caused by germline mutation(s) in the CDKN2A gene.
C165258	Cellosaurus Disease Terminology	C5183	Hereditary Multiple Exostoses	Hereditary Multiple Exostoses		Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.
C165258	Cellosaurus Disease Terminology	C120083	Hereditary Nonpolyposis Colorectal Cancer Syndrome	Hereditary Nonpolyposis Colorectal Cancer Syndrome	Familial Nonpolyposis Colorectal Cancer Syndrome \|\| Hereditary Nonpolyposis Colorectal Cancer	An inherited syndrome characterized by the development of several cancers, particularly colon and rectal cancers. It includes Lynch syndrome which is associated with germline mutations in DNA mismatch-repair genes and familial colorectal cancer type X which is characterized by the absence of germline mutations in DNA mismatch-repair genes.
C165258	Cellosaurus Disease Terminology	C34864	Hereditary Optic Atrophy	Hereditary Optic Atrophy		A family of inherited disorders characterized by progressive loss of vision secondary to death of the retinal ganglion cell axons that comprise the optic nerve.
C165258	Cellosaurus Disease Terminology	C98944	Hereditary Orotic Aciduria	Hereditary Orotic Aciduria		An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine.
C165258	Cellosaurus Disease Terminology	C43298	Hereditary Pancreatic Carcinoma	Hereditary Pancreatic Carcinoma	Familial Pancreatic Cancer \|\| Familial Pancreatic Carcinoma \|\| Hereditary Pancreatic Cancer	A carcinoma that arises from the pancreas in a patient with a family history of pancreatic cancer. In the minority of cases, patients have recognized genetic syndromes (e.g., FAMMM syndrome, BRCA2 syndrome, Peutz-Jeghers syndrome) however, in the majority of cases the genetic cause has not been identified.
C165258	Cellosaurus Disease Terminology	C129072	Hereditary Persistence of Fetal Hemoglobin	Hereditary Persistence of Fetal Hemoglobin		The persistence of substantial fetal hemoglobin production into adulthood, usually associated with hemoglobinopathies due to mutations in the alpha and/or beta chain of hemoglobin.
C165258	Cellosaurus Disease Terminology	C140267	Hereditary Spastic Paraplegia	Hereditary Spastic Paraplegia		Spastic paraplegia that is transmitted from parent to child.
C165258	Cellosaurus Disease Terminology	C97074	Hereditary Spherocytosis	Hereditary Spherocytosis		An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.
C165258	Cellosaurus Disease Terminology	C46099	Hereditary Thyroid Gland Medullary Carcinoma	Hereditary Thyroid Gland Medullary Carcinoma	Familial Thyroid Gland Medullary Carcinoma	A medullary thyroid gland carcinoma inherited through an autosomal dominant mode. It is associated with multiple endocrine neoplasia type II (2a) or III (2b).
C165258	Cellosaurus Disease Terminology	C165489	Hereditary Transthyretin Amyloid Cardiomyopathy	Hereditary Cardiac ATTR Amyloidosis	Familial Cardiac ATTR Amyloidosis \|\| Familial Cardiac Transthyretin Amyloidosis \|\| Hereditary Transthyretin Amyloid Cardiomyopathy	The accumulation of ATTR amyloid deposits in the heart due to mutations in the TTR gene.
C165258	Cellosaurus Disease Terminology	C121945	Heritable Pulmonary Arterial Hypertension	Heritable Pulmonary Arterial Hypertension	HPAH	A rare, progressive, autosomal dominant inherited disorder. It is caused by mutation in the BMPR2 gene in most cases. It is characterized by abnormally high blood pressure in the pulmonary artery, caused by obstruction and obliteration of the small pulmonary arteries.
C165258	Cellosaurus Disease Terminology	C150367	Hermansky-Pudlak Syndrome 1	Hermansky-Pudlak Syndrome 1		An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS1 gene, encoding Hermansky-Pudlak syndrome 1 protein. This sub-type is associated with pulmonary fibrosis.
C165258	Cellosaurus Disease Terminology	C150368	Hermansky-Pudlak Syndrome 2	Hermansky-Pudlak Syndrome 2		An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the AP3B1 gene, encoding AP-3 complex subunit beta-1. Immunodeficiency due to neutropenia is a characteristic of this sub-type.
C165258	Cellosaurus Disease Terminology	C150369	Hermansky-Pudlak Syndrome 6	Hermansky-Pudlak Syndrome 6		An autosomal recessive sub-type of Hermansky-Pudlak syndrome caused by mutation(s) in the HPS6 gene, encoding Hermansky-Pudlak syndrome 6 protein. Individuals with this type of syndrome, as well as with types 3 or 5, have the mildest symptoms.
C165258	Cellosaurus Disease Terminology	C84762	Herpes Simplex Encephalitis	Herpes Simplex Encephalitis		A serious viral disorder characterized by infection of the brain by herpes simplex virus type 1 or 2. Herpes simplex virus type 1 affects adults, whereas herpes simplex virus type 2 affects newborns. Signs and symptoms include fever, headaches, vomiting, seizures and psychiatric manifestations.
C165258	Cellosaurus Disease Terminology	C84764	HFE-Associated Hereditary Hemochromatosis	HFE-Associated Hereditary Hemochromatosis		A hereditary disorder of iron metabolism caused by mutations in the HFE gene. It is characterized by increased absorption of iron in the gastrointestinal mucosa. It results in abnormal iron accumulation in the liver, pancreas, skin, joints, heart, and testes. It may lead to skin pigmentation, liver failure, heart failure, and hypogonadism.
C165258	Cellosaurus Disease Terminology	C3702	Hibernoma	Hibernoma	Brown Fat Neoplasm \|\| Brown Fat Tumor \|\| Fetal Fat Cell Lipoma	A rare benign slow growing adipose tissue tumor, characterized by the presence of polygonal brown fat cells with multivacuolated and/or granular cytoplasm. The tumor is usually painless and is most often seen in young adults.
C165258	Cellosaurus Disease Terminology	C168987	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	High Density Lipoprotein Cholesterol Level Quantitative Trait Locus 6	High Density Lipoprotein Cholesterol Level QTL6	A lipid transport disorder characterized by extremely elevated levels of high density lipoprotein cholesterol (HDL C; HDLC). It is caused by heterozygous mutations in the SCARB1 gene that result in decreased transport of HCL C into the liver by scavenger receptor class B member 1.
C165258	Cellosaurus Disease Terminology	C125904	High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements	High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements	DH Lymphoma \|\| Double Hit Lymphoma \|\| Double-Hit Lymphoma \|\| High-Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements	High-grade B-cell lymphoma characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis.
C165258	Cellosaurus Disease Terminology	C131913	High Grade B-Cell Lymphoma with MYC, BCL2, and BCL6 Rearrangements	High Grade B-Cell Lymphoma with MYC, BCL2, and BCL6 Rearrangements	High-Grade B-Cell Lymphoma with MYC, BCL2, and BCL6 Rearrangements \|\| Triple Hit Lymphoma \|\| Triple-Hit Lymphoma	High-grade B-cell lymphoma characterized by the abnormal rearrangement of MYC gene, BCL2 gene, and BCL6 gene. Patients with this type of lymphoma usually respond poorly to standard treatments and have a poor prognosis.
C165258	Cellosaurus Disease Terminology	C80291	High Grade B-Cell Lymphoma, Not Otherwise Specified	High Grade B-Cell Lymphoma, Not Otherwise Specified	High Grade B-Cell Lymphoma, NOS \|\| High-Grade B-Cell Lymphoma, NOS \|\| High-Grade B-Cell Lymphoma, Not Otherwise Specified	High-grade B-cell lymphoma with blastoid features or features between diffuse large B-cell lymphoma and Burkitt lymphoma that lacks MYC, BCL2, and BCL6 gene rearrangements.
C165258	Cellosaurus Disease Terminology	C203949	High Grade Mucinous Carcinoma Peritonei with Signet Ring Cells	High Grade Mucinous Carcinoma Peritonei with Signet Ring Cells	High Grade Peritoneal Mucinous Carcinomatosis with Signet Ring Cells \|\| High-Grade Mucinous Carcinoma Peritonei with Signet Ring Cells \|\| High-Grade Peritoneal Mucinous Carcinomatosis with Signet Ring Cells	A high-grade mucinous adenocarcinoma that has spread to the peritoneum and is characterized by the presence of signet ring malignant cells.
C165258	Cellosaurus Disease Terminology	C105555	High Grade Ovarian Serous Adenocarcinoma	Ovarian High Grade Serous Adenocarcinoma	High Grade Ovarian Serous Adenocarcinoma \|\| High-Grade Ovarian Serous Adenocarcinoma \|\| Ovarian High-Grade Serous Adenocarcinoma	A rapidly growing serous adenocarcinoma that arises from the ovary. It is characterized by the presence of high grade cytologic features and frequent mitotic figures.
C165258	Cellosaurus Disease Terminology	C5541	High Grade Prostatic Intraepithelial Neoplasia	High Grade Prostatic Intraepithelial Neoplasia	High-Grade Intraepithelial Neoplasia of Prostate \|\| High-Grade Intraepithelial Neoplasia of the Prostate \|\| High-Grade PIN \|\| High-Grade Prostatic Intraepithelial Neoplasia	Prostatic intraepithelial neoplasia characterized by the presence of morphologically malignant cells lining the acini and ducts. The malignant cells are enlarged, contain prominent nucleoli, and have increased nuclear/cytoplasmic ratio. The malignant cells may grow within the ducts and acini in four architectural patterns: flat, tufting, micropapillary, and cribriform. The presence of high grade prostatic intraepithelial neoplasia in needle biopsy is a risk factor for the subsequent detection of carcinoma on repeat biopsy.
C165258	Cellosaurus Disease Terminology	C36077	Hilar Cholangiocarcinoma	Hilar Cholangiocarcinoma	Hilar CC \|\| Hilar CCA \|\| Klatskin Tumor \|\| Perihilar CC \|\| Perihilar CCA \|\| Perihilar Cholangiocarcinoma	A carcinoma that arises from the junction, or adjacent to the junction, of the right and left hepatic ducts.
C165258	Cellosaurus Disease Terminology	C6423	Hindgut Carcinoid Tumor	Hindgut Neuroendocrine Tumor		A neuroendocrine tumor that arises from the sigmoid colon, descending colon, or rectum.
C165258	Cellosaurus Disease Terminology	C34700	Hirschsprung Disease	Hirschsprung Disease	Aganglionic Megacolon \|\| Hirschsprung's Disease	A congenital disorder characterized by the absence of myenteric ganglion cells in the distal colon. It results in a functional stenosis of the distal colon and a massive distention of the proximal colon.
C165258	Cellosaurus Disease Terminology	C27349	Histiocytic Sarcoma	Histiocytic Sarcoma		An aggressive malignant neoplasm with a poor response to therapy, usually presenting as stage III/IV disease. It is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes.
C165258	Cellosaurus Disease Terminology	C35765	Histiocytoma	Histiocytoma		A mesenchymal tumor composed of fibroblastic and histiocytic cells.
C165258	Cellosaurus Disease Terminology	C84523	HMG-CoA Lyase Deficiency	HMG-CoA Lyase Deficiency	3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency \|\| 3-OH 3-Methyl Glutaric Aciduria \|\| Hydroxymethylglutaryl-CoA Lyase Deficiency	A rare genetic inherited disorder characterized by inability of the body to process the amino acid leucine. Signs and symptoms include vomiting, dehydration, lethargy, convulsions, and coma.
C165258	Cellosaurus Disease Terminology	C9357	Hodgkin Lymphoma	Hodgkin Lymphoma	Hodgkin's Lymphoma	A lymphoma characterized by the presence of relatively few malignant cells called Reed-Sternberg cells and mononuclear Hodgkin cells that are admixed with nonneoplastic inflammatory cells. The malignant cells have a distinctive immunophenotype; they are positive for CD30 and CD15 and negative for CD3, CD20, and CD45.
C165258	Cellosaurus Disease Terminology	C98842	Holocarboxylase Synthetase Deficiency	Holocarboxylase Synthetase Deficiency	Multiple Carboxylase Deficiency	A rare autosomal recessive inherited disorder caused by mutations in the HLCS gene. It is characterized by deficiency of the enzyme holocarboxylase synthetase which facilitates the effective use of the vitamin biotin in the body. Signs and symptoms appear early in life and include breathing difficulties, feeding difficulties, alopecia, skin rash, and lethargy. Lifelong administration of biotin supplements is required. If it is not treated properly, it may lead to developmental delays, seizures, and coma.
C165258	Cellosaurus Disease Terminology	C74988	Holoprosencephaly	Holoprosencephaly		A rare disorder characterized by the failure of the forebrain to divide into distinct hemispheres. It is associated with craniofacial abnormalities, developmental abnormalities, and seizures.
C165258	Cellosaurus Disease Terminology	C125592	Holt-Oram Syndrome	Holt-Oram Syndrome		A rare, autosomal dominant inherited syndrome caused by mutations in the TBX5 gene. It is characterized by skeletal abnormalities in the upper limbs and heart abnormalities.
C165258	Cellosaurus Disease Terminology	C84765	Homocystinuria	Homocystinuria		An autosomal recessive inherited metabolic disorder caused by mutations in the CBS, MTHFR, MTR, and MTRR genes. It is characterized by abnormalities in the methionine metabolism and is associated with deficiency of cystathionine synthase. It results in the accumulation of homocysteine in the serum. It may affect the cardiovascular, musculoskeletal and the central nervous systems.
C165258	Cellosaurus Disease Terminology	C142173	Homocystinuria-Megaloblastic Anemia, cblE Complementation Type	Homocystinuria-Megaloblastic Anemia, cblE Complementation Type	Methylcobalamin Deficiency, cblE Type	An autosomal recessive condition caused by mutation(s) in the MTRR gene, encoding methionine synthase reductase. It is characterized by homocystinuria and megaloblastic anemia.
C165258	Cellosaurus Disease Terminology	C134778	Horse Lymphoma	Horse Lymphoma		Lymphoma that occurs in a horse.
C165258	Cellosaurus Disease Terminology	C134569	Horse Melanoma	Horse Melanoma		Melanoma that occurs in a horse.
C165258	Cellosaurus Disease Terminology	C134995	Horse Sarcoid	Horse Sarcoid		A fibroblastic tumor that occurs in the skin of a horse.
C165258	Cellosaurus Disease Terminology	C173624	Horse Transitional Cell Carcinoma	Horse Transitional Cell Carcinoma		Transitional cell carcinoma that occurs in a horse.
C165258	Cellosaurus Disease Terminology	C179058	HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis	HTLV-1 Associated Myelopathy/Tropical Spastic Paraparesis		A progressive neurological disorder resulting in weakness or paralysis of the legs, lower back pain, and urinary symptoms. It is a sequela of infection with the HTLV-1 virus.
C165258	Cellosaurus Disease Terminology	C180841	Human Papillomavirus-Independent Cervical Squamous Cell Carcinoma	Human Papillomavirus-Independent Cervical Squamous Cell Carcinoma	HPV-Independent Cervical Squamous Cell Carcinoma	A cervical squamous cell carcinoma not associated with human papillomavirus infection.
C165258	Cellosaurus Disease Terminology	C27676	Human Papillomavirus-Related Cervical Squamous Cell Carcinoma	Human Papillomavirus-Related Cervical Squamous Cell Carcinoma	HPV-Associated Cervical Squamous Cell Carcinoma \|\| HPV-Related Cervical Squamous Cell Carcinoma \|\| HPVA Cervical Squamous Cell Carcinoma \|\| Human Papilloma Virus Related Cervical Squamous Cell Carcinoma \|\| Human Papilloma Virus-Related Cervical Squamous Cell Carcinoma \|\| Human Papillomavirus-Associated Cervical Squamous Cell Carcinoma	A cervical squamous cell carcinoma associated with human papillomavirus infection.
C165258	Cellosaurus Disease Terminology	C27677	Human Papillomavirus-Related Endocervical Adenocarcinoma	Human Papillomavirus-Related Cervical Adenocarcinoma	HPV-Related Endocervical Adenocarcinoma \|\| HPVA Cervical Adenocarcinoma \|\| Human Papilloma Virus Related Endocervical Adenocarcinoma \|\| Human Papilloma Virus-Related Endocervical Adenocarcinoma \|\| Human Papillomavirus- Associated Endocervical Adenocarcinoma \|\| Human Papillomavirus-Associated Cervical Adenocarcinoma \|\| Human Papillomavirus-Related Endocervical Adenocarcinoma	A cervical adenocarcinoma associated with the presence of human papillomavirus infection.
C165258	Cellosaurus Disease Terminology	C61260	Hunter Syndrome	Hunter Syndrome	Mucopolysaccharidosis Type II	An X-linked, inherited lysosomal storage disease caused by the deficiency of the enzyme iduronate sulfatase that is responsible for the degradation of mucopolysaccharides. It nearly always affects males and is characterized by the accumulation of mucopolysaccharides in various organs, resulting in mental dysfunction, enlarged abdomen, hearing loss, obstructive airway disease, heart disease, and hepatosplenomegaly.
C165258	Cellosaurus Disease Terminology	C82342	Huntington's Disease	Huntington's Disease	Huntington Disease \|\| Huntington's Chorea	A progressive hereditary neurodegenerative disorder inherited in an autosomal dominant fashion. Symptoms may appear at any age and include uncontrolled movements, clumsiness, balance problems, difficulty walking, talking, or swallowing. The disease has a progressive course with a decline in mental abilities, and the development of psychiatric problems.
C165258	Cellosaurus Disease Terminology	C61261	Hurler Syndrome	Hurler Syndrome	Mucopolysaccharidosis Type IH	An autosomal recessive inherited disorder of mucopolysaccharide metabolism. It is the most severe form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase resulting in the accumulation of mucopolysaccharides in the tissues.
C165258	Cellosaurus Disease Terminology	C122782	Hurler-Scheie Syndrome	Hurler-Scheie Syndrome		An autosomal recessive disorder representing the intermediate form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include short stature, cloudy cornea, umbilical hernia, joint stiffening, hepatosplenomegaly, and mental retardation.
C165258	Cellosaurus Disease Terminology	C3110	Hydatidiform Mole	Hydatidiform Mole	Hydatid Mole \|\| Molar Pregnancy	A gestational trophoblastic disorder characterized by marked enlargement of the chorionic villi, hyperplasia of the villous trophoblastic cells and hydropic changes.
C165258	Cellosaurus Disease Terminology	C84767	Hydrops Fetalis	Hydrops Fetalis		A condition characterized by fluid accumulation in two or more anatomic compartments in the fetus.
C165258	Cellosaurus Disease Terminology	C176014	Hypercholesterolemia, Familial, 2	Hypercholesterolemia, Familial, 2	Autosomal Dominant Hypercholesterolemia \|\| Familial Hypercholesterolemia 2	An autosomal dominant condition caused by mutation(s) in the APOB gene, encoding apolipoprotein B-100. It is characterized by hypercholesterolemia and abnormal low-density lipoproteins.
C165258	Cellosaurus Disease Terminology	C128114	Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Familial, 4	Autosomal Recessive Hypercholesterolemia	An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The phenotype is similar to that of familial hypercholesterolemia, but generally considered to be a milder form of hypercholesterolemia.
C165258	Cellosaurus Disease Terminology	C148327	HyperCKmia	HyperCKmia	Isolated HyperCKemia	A condition characterized by elevated concentrations of creatine kinase in the blood. It is one of a group of conditions caused by mutation(s) in the CAV3 gene, encoding caveolin-3. Isolated hyperCKmia has no other associated manifestations.
C165258	Cellosaurus Disease Terminology	C124845	Hyperglycerolemia	Hyperglycerolemia	GKD \|\| Glycerol Kinase Deficiency	A rare, X-linked recessive genetic disorder of glycerol metabolism caused by mutations or deletion in the GK gene. It results in deficiency of the enzyme glycerol kinase. It is characterized by elevated plasma and urine glycerol levels and neurometabolic manifestations which can cause life-threatening metabolic crisis in children.
C165258	Cellosaurus Disease Terminology	C3144	Hyperimmunoglobulin E Syndrome	Hyperimmunoglobulin E Syndrome		A condition that is characterized by elevated serum IgE, dermatitis, and respiratory infections.
C165258	Cellosaurus Disease Terminology	C84771	Hyperlipoproteinemia, Type I	Hyperlipoproteinemia, Type I	Familial Essential Hyperlipemia \|\| Familial Hyperchylomicronemia \|\| Hyperlipoproteinemia Type 1A \|\| Lipoprotein Lipase Deficiency	A genetic disorder of lipoprotein metabolism caused by mutations in the LPL and apolipoprotein (apo) C-II genes. It is characterized by increased levels of chylomicrons and triglycerides in the blood.
C165258	Cellosaurus Disease Terminology	C123416	Hyperlipoproteinemia, Type IIa	Hyperlipoproteinemia, Type IIa	Familial Hypercholesterolemia \|\| Hyperlipidemia Type IIa \|\| Type IIa Hyperlipidemia	An autosomal dominant inherited disorder characterized by very high levels of low-density lipoprotein cholesterol (LDL-C) and total cholesterol in the blood. It is usually caused by mutations in the LDLR gene which is located on the short arm of chromosome 19.
C165258	Cellosaurus Disease Terminology	C35637	Hyperlipoproteinemia, Type IIb	Hyperlipoproteinemia, Type IIb	Familial Combined Hyperlipidemia \|\| Hyperlipidemia Type IIb \|\| Type IIb Hyperlipidemia \|\| Type IIb Hyperlipoproteinemia	A disorder of lipoprotein metabolism characterized by high levels of cholesterol and triglycerides in the blood. It is caused by elevation of low density and very low density lipoproteins.
C165258	Cellosaurus Disease Terminology	C123433	Hyperlysinemia	Hyperlysinemia		An autosomal recessive inherited condition caused by mutations in the AASS gene. It is characterized by elevated levels of the amino acid lysine in the blood. It usually does not cause health problems.
C165258	Cellosaurus Disease Terminology	C129029	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome		An autosomal recessive disorder caused by mutation(s) in the SLC25A15 gene, encoding mitochondrial ornithine transporter 1. The condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures.
C165258	Cellosaurus Disease Terminology	C138171	Hyperphenylalaninemia, BH4-deficient A	Hyperphenylalaninemia, BH4-deficient A	6-pyruvoyl Tetrahydropterin Synthase Deficiency	An autosomal recessive condition caused by mutation(s) in the PTS gene, encoding 6-pyruvoyl tetrahydrobiopterin synthase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
C165258	Cellosaurus Disease Terminology	C138173	Hyperphenylalaninemia, BH4-deficient C	Hyperphenylalaninemia, BH4-deficient C	Dihydropteridine Reductase Deficiency	An autosomal recessive condition caused by mutation(s) in the QDPR gene, encoding dihydropteridine reductase. It is characterized by BH4-defecient hyperphenylalanemia, depletion of dopamine and serotonin, and progressive cognitive and motor deficits.
C165258	Cellosaurus Disease Terminology	C131851	Hyperphosphatemic Familial Tumoral Calcinosis	Hyperphosphatemic Familial Tumoral Calcinosis		An autosomal recessive disorder caused by loss-of-function mutation(s) in the GALNT3, FGF23, or KL gene, which encode polypeptide N-acetylgalactosaminyltransferase 3, fibroblast growth factor 23, and klotho, respectively. This condition, the biochemical hallmark of which is hyperphosphatemia caused by increased renal phosphate absorption, is characterized by the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and/or bone.
C165258	Cellosaurus Disease Terminology	C125593	Hyperpipecolatemia	Hyperpipecolatemia	Pipecolic Acidemia	A rare, autosomal recessive inherited metabolic disorder characterized by high levels of pipecolic acid in the blood, leading to neuropathy and hepatomegaly.
C165258	Cellosaurus Disease Terminology	C3113	Hyperplasia	Hyperplasia	Hyperplastic	An abnormal increase in the number of cells in an organ or a tissue with consequent enlargement.
C165258	Cellosaurus Disease Terminology	C3117	Hypertension	Hypertension	High Blood Pressure \|\| Vascular Hypertensive Disorder	Blood pressure that is abnormally high.
C165258	Cellosaurus Disease Terminology	C34449	Hypertrophic Cardiomyopathy	Hypertrophic Cardiomyopathy		A condition in which the myocardium is hypertrophied without an obvious cause. The hypertrophy is generally asymmetric and may be associated with obstruction of the ventricular outflow tract.
C165258	Cellosaurus Disease Terminology	C118697	Hypochondroplasia	Hypochondroplasia		An autosomal dominant disorder that is often caused by a defect in fibroblast growth factor receptor 3, and characterized by short stature, micromelia, and a comparatively large head. The features are milder than those seen in achondroplasia.
C165258	Cellosaurus Disease Terminology	C26931	Hypogammaglobulinemia	Hypogammaglobulinemia	Agammaglobulinemia	A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.
C165258	Cellosaurus Disease Terminology	C9227	Hypogonadism	Hypogonadism	Hypogonadotropism	A disorder characterized by decreased function of the gonads. Clinical manifestations in both males and females include poor libido, infertility, and osteoporosis. Additional signs in males include erectile dysfunction, muscle atrophy, gynecomastia and increased abdominal fat. In females, additional signs include shrinking of the breasts and loss of, or failure to develop menstruation.
C165258	Cellosaurus Disease Terminology	C75479	Hypogonadotropic Hypogonadism with Anosmia	Hypogonadotropic Hypogonadism with Anosmia	Kallmann Syndrome	An X-linked or autosomal dominant genetic syndrome characterized by hypogonadotropic hypogonadism and anosmia.
C165258	Cellosaurus Disease Terminology	C78349	Hypomania	Hypomania	Hypomanic Mood	A less severe form of mania characterized by elevated mood, hyperactivity, and grandiosity. In contrast to mania, these symptoms do not cause significant impairment of the individual's productivity at work, or social and family relationships.
C165258	Cellosaurus Disease Terminology	C201587	Hypomyelinating Leukodystrophy-22	Hypomyelinating Leukodystrophy-22		An autosomal dominant condition caused by mutation(s) in the CLDN11 gene, encoding claudin-11. It is characterized by global developmental delay, mild impaired intellectual development, limited ability to walk, and hypomyelinating leukodystrophy on MRI.
C165258	Cellosaurus Disease Terminology	C183310	Hypomyelinating Leukodystrophy-6	Hypomyelinating Leukodystrophy-6	Hypomyelination with Atrophy of Basal Ganglia and Cerebellum	A genetic disorder of infancy or early childhood caused by mutation(s) in the TUBB4A gene, encoding the tubulin beta-4A chain. It is characterized by hypomyelination or atrophy of the cerebellum and or putamen leading to delayed motor development, gait instability, and extrapyramidal movement disorders.
C165258	Cellosaurus Disease Terminology	C210817	Hypomyelinating Leukodystrophy-7	Hypomyelinating Leukodystrophy-7		An autosomal recessive condition caused by mutation(s) in the POLR3A DNA-directed RNA polymerase III subunit RPC1. It is characterized by neurological, dental, ophthalmological, and endocrine alterations, including cognitive impairment, ataxia, hypogonadotrophic hypogonadism, and eye abnormalities.
C165258	Cellosaurus Disease Terminology	C180850	Hypomyelinating Leukodystrophy-8	Hypomyelinating Leukodystrophy-8	4H Syndrome \|\| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	An autosomal recessive condition caused by mutation(s) in the POLR3B gene, encoding DNA-directed RNA polymerase III subunit RPC2. It is characterized by early onset cerebellar ataxia and mild intellectual disability. Diffuse cerebral hypomyelination and cerebellar atrophy are apparent on MRI. Hypogonadotropic hypogonadism and hypodontia are also features of this condition.
C165258	Cellosaurus Disease Terminology	C78350	Hypoparathyroidism	Hypoparathyroidism		An endocrine disorder characterized by decreased production of parathyroid hormone by the parathyroid glands. It is usually caused by damage of the parathyroid glands during head and neck surgery. Signs and symptoms include muscle cramps, abdominal pain, dry skin, brittle nails, cataracts, tetany, and convulsions.
C165258	Cellosaurus Disease Terminology	C133727	Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypoparathyroidism with Short Stature, Mental Retardation, and Seizures \|\| Hypoparathyroidism, Congenital, Associated with Dysmorphism, Growth Retardation, and Developmental Delay \|\| Sanjad-Sakati Syndrome	An autosomal recessive condition caused by mutation(s) in the TBCE gene, encoding tubulin-specific chaperone E. It is characterized by congenital hypoparathyroidism, mental retardation, seizures and developmental delay.
C165258	Cellosaurus Disease Terminology	C4043	Hypopharyngeal Squamous Cell Carcinoma	Hypopharyngeal Squamous Cell Carcinoma	Epidermoid Carcinoma of Hypopharynx \|\| Epidermoid Carcinoma of the Hypopharynx \|\| Hypopharyngeal Conventional Squamous Cell Carcinoma \|\| Hypopharyngeal Epidermoid Carcinoma \|\| Squamous Cell Carcinoma of Hypopharynx \|\| Squamous Cell Carcinoma of the Hypopharynx	A squamous cell carcinoma arising from the hypopharynx. Signs and symptoms include dysphagia, hemoptysis, and the presence of a neck mass.
C165258	Cellosaurus Disease Terminology	C26798	Hypophosphatasia	Hypophosphatasia		A rare, serious metabolic disorder caused by mutations in the gene encoding tissue non-specific alkaline phosphatase (TNSALP) activity. It is characterized by low activity of TNSALP in the serum. The signs and symptoms vary significantly and include death in utero, failure to thrive, premature loss of deciduous teeth, early loss of the adult dentition, hypercalcemia, osteomalacia, skeletal defects, renal stones, and movement disorders.
C165258	Cellosaurus Disease Terminology	C98894	Hypoplastic Left Heart Syndrome	Hypoplastic Left Heart Syndrome		A rare congenital cardiovascular disorder characterized by severe underdevelopment of the left side of the heart. Signs and symptoms include tachypnea, cyanosis, dyspnea, and lethargy.
C165258	Cellosaurus Disease Terminology	C192635	Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome	Hypotonia, Ataxia, Developmental Delay, and Tooth Enamel Defect Syndrome		An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.
C165258	Cellosaurus Disease Terminology	C61270	I-Cell Disease	I-Cell Disease	Inclusion-cell Disease \|\| Mucolipidosis Type II	An inherited lysosomal storage disease characterized by the presence of dense intracytoplasmic inclusions in mesenchymal cells, especially fibroblasts. Signs and symptoms include developmental delay, psychomotor deterioration, and growth failure.
C165258	Cellosaurus Disease Terminology	C84776	Ichthyosis	Ichthyosis		A group of inherited or acquired skin disorders characterized by a dry, thickened, and scaly skin. The skin changes range from mild to severe.
C165258	Cellosaurus Disease Terminology	C179297	Idiopathic Basal Ganglia Calcification	Idiopathic Basal Ganglia Calcification		Basal ganglia calcification for which no underlying cause can be identified.
C165258	Cellosaurus Disease Terminology	C129973	Idiopathic Basal Ganglia Calcification 1	Idiopathic Basal Ganglia Calcification 1	Bilateral Striopallidodentate Calcinosis	An autosomal dominant condition caused by mutation(s) in the SLC20A2 gene, encoding sodium-dependent phosphate transporter 2. It is characterized by calcification of the basal ganglia.
C165258	Cellosaurus Disease Terminology	C122796	Idiopathic Nephrotic Syndrome	Idiopathic Nephrotic Syndrome		Nephrotic syndrome for which no cause has been identified.
C165258	Cellosaurus Disease Terminology	C35716	Idiopathic Pulmonary Fibrosis	Idiopathic Pulmonary Fibrosis		Chronic and progressive fibrosis of the lung parenchyma of unknown cause.
C165258	Cellosaurus Disease Terminology	C97119	Idiopathic Pulmonary Hypertension	Idiopathic Pulmonary Hypertension	Idiopathic Pulmonary Arterial Hypertension	Increased blood pressure in the arteries of the lungs; the etiology is unknown.
C165258	Cellosaurus Disease Terminology	C3446	Idiopathic Thrombocytopenic Purpura	Primary Immune Thrombocytopenia	Idiopathic Thrombocytopenia \|\| Idiopathic Thrombocytopenia Purpura \|\| Idiopathic Thrombocytopenic Purpura	Acquired thrombocytopenia of unknown cause, characterized by immune-mediated destruction of normal platelets. It affects both children and adults. It manifests with petechiae, purpura, and overt bleeding. Based upon the duration of the disease, it is classified as newly diagnosed (from diagnosis until 3 months), persistent (3-12 months), and chronic (lasting for more than 12 months).
C165258	Cellosaurus Disease Terminology	C34564	Idiopathic Torsion Dystonia	Idiopathic Torsion Dystonia		Torsion dystonia for which no underlying cause has been identified.
C165258	Cellosaurus Disease Terminology	C34643	IgA Nephropathy	IgA Nephropathy	IGA Glomerulonephritis	A chronic autoimmune glomerulonephritis characterized by the deposition of immunoglobulin A in the mesangium of the glomeruli. It is manifested with hematuria and mild proteinuria.
C165258	Cellosaurus Disease Terminology	C95992	IgG4-Related Disease	IgG4-Related Disease	IgG4-Related Sclerosing Disease	An uncommon, mass-forming lesion that affects single or multiple sites. It is characterized by the presence of a lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells and storiform tissue fibrosis, and increased serum IgG4 levels. It usually occurs in the pancreas, submandibular glands, lacrimal glands, lymph nodes, and hepatobiliary tract. Patients usually present with fatigue and weight loss. It responds to steroids treatment and follows a course of remissions and recurrences.
C165258	Cellosaurus Disease Terminology	C8111	Immature Ovarian Teratoma	Immature Ovarian Teratoma	Grade 2 Ovarian Teratoma \|\| Immature Germ Cell Teratoma of Ovary \|\| Immature Germ Cell Teratoma of the Ovary \|\| Immature Teratoma of Ovary \|\| Immature Teratoma of the Ovary \|\| Ovarian Germ Cell Immature Teratoma \|\| Ovarian Immature Germ Cell Teratoma \|\| Ovarian Immature Teratoma	An immature teratoma arising from the ovary. It usually affects females in their first two decades of life.
C165258	Cellosaurus Disease Terminology	C3507	Immune System Disorder	Immune System Disorder		A disorder resulting from an abnormality in the immune system.
C165258	Cellosaurus Disease Terminology	C187988	Immunodeficiency 14A, Autosomal Dominant	Immunodeficiency 14A, Autosomal Dominant	Activated PI3K-delta Syndrome \|\| Immunodeficiency 14	An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood.
C165258	Cellosaurus Disease Terminology	C84783	Immunodeficiency with Hyper-IgM	Immunodeficiency with Hyper-IgM		A genetically heterogenous group of conditions characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.
C165258	Cellosaurus Disease Terminology	C129074	Immunodeficiency with Hyper-IgM Type 2	Immunodeficiency with Hyper-IgM Type 2		An autosomal recessive immunodeficiency that is caused by mutation(s) in the AICDA gene, single-stranded DNA cytosine deaminase. It is characterized by normal or elevated concentrations of IgM and decreased or absent concentrations of IgG, IgA, and IgE.
C165258	Cellosaurus Disease Terminology	C156430	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1		An autosomal recessive condition caused by mutation(s) in the DNMT3B gene, encoding DNA (cytosine-5)-methyltransferase 3B. It is characterized by immunoglobulin deficiency, centromeric instability of chromosomes 1,9, and 19 (rarely chromosome 2), and facial dysmorphism.
C165258	Cellosaurus Disease Terminology	C123434	Immunoglobulin A Deficiency 1	Immunoglobulin A Deficiency 1	IGAD1	Decreased or absent levels of serum immunoglobulin A, with normal serum levels of immunoglobulin G and immunoglobulin M in a patient who is older than 4 years of age and in whom all other causes of hypogammaglobulinemia have been excluded. Affected individuals may be asymptomatic or have frequent infections, allergic reactions, or autoimmune disorders.
C165258	Cellosaurus Disease Terminology	C152105	Inborn Error of Immunity	Inborn Error of Immunity	Primary Immune Deficiency Disorder \|\| Primary Immunodeficiency \|\| Primary Immunodeficiency Disorder \|\| Primary Immunodeficiency Syndrome	A group of immunodeficiencies caused by damaging germline mutations in single genes. Patients are at an increased risk to develop infections, autoimmunity, bone marrow failure, and malignancies, usually lymphomas.
C165258	Cellosaurus Disease Terminology	C122663	Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1	Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 1		A rare autosomal dominant inherited disorder caused by mutations in the VCP gene. It can affect the muscles, bones, and brain. Patients may develop myopathy that initially involves the muscles of the hips and shoulders and as the disorder progresses it may affect the cardiac and respiratory muscles, leading to life-threatening cardiac and pulmonary failure. Approximately half of the adults develop Paget disease of bone, and approximately one-third develop frontotemporal dementia.
C165258	Cellosaurus Disease Terminology	C84786	Inclusion Body Myositis	Inclusion Body Myositis		An acquired or hereditary chronic inflammatory disorder of the muscles characterized by the morphologic finding of vacuoles and filamentous inclusions in the muscle tissues.
C165258	Cellosaurus Disease Terminology	C84787	Incontinentia Pigmenti	Incontinentia Pigmenti		A rare disorder caused by mutations in the IKBKG gene. It is characterized by skin abnormalities, alopecia, dystrophic nails, and abnormal tooth shape. The skin changes evolve from an initial blistering rash, to wart-like lesions, and eventually to hypopigmentation.
C165258	Cellosaurus Disease Terminology	C122617	Infant Acute Lymphoblastic Leukemia with MLL Rearrangement	Infant Acute Lymphoblastic Leukemia with KMT2A Rearrangement	Infant Acute Lymphoblastic Leukemia with MLL Rearrangement	An acute lymphoblastic leukemia with rearrangement of the KMT2A gene that occurs in infancy.
C165258	Cellosaurus Disease Terminology	C6645	Infantile Hemangioma	Infantile Hemangioma	Cellular Hemangioma \|\| Infantile Hemangioendothelioma \|\| Juvenile Capillary Hemangioma \|\| Juvenile Hemangioma \|\| Strawberry Nevus	A hemangioma that is characterized by the proliferation of lobules of capillaries. It occurs in infants and children and may regress spontaneously.
C165258	Cellosaurus Disease Terminology	C158135	Infantile Liver Failure Syndrome 2	Infantile Liver Failure Syndrome 2		An autosomal recessive condition caused by mutation(s) in the NBAS gene, encoding neuroblastoma-amplified sequence. It is characterized by recurrent episodes of acute liver failure that begin in infancy.
C165258	Cellosaurus Disease Terminology	C84927	Infantile Neuroaxonal Dystrophy	Infantile Neuroaxonal Dystrophy		A rare autosomal recessive neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spehroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and dementia.
C165258	Cellosaurus Disease Terminology	C84789	Infantile Refsum Disease	Infantile Refsum Disease		A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.
C165258	Cellosaurus Disease Terminology	C157123	Infantile-Onset Multisystem Autoimmune Disease 1	Infantile-Onset Multisystem Autoimmune Disease 1		An autosomal dominant condition caused by mutation(s) in the STAT3 gene, encoding signal transducer and activator of transcription 3. It is characterized by variable features along a spectrum of autoimmune disorders affecting multiple organs. Common manifestations may include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis.
C165258	Cellosaurus Disease Terminology	C34726	Infectious Mononucleosis	Infectious Mononucleosis		A clinical syndrome of fever, sore throat, fatigue, and lymphadenopathy caused by infection with the Epstein-Barr virus. Subsequent physical findings may include hepatomegaly, palatal petechiae, jaundice, uvular edema, and splenomegaly.
C165258	Cellosaurus Disease Terminology	C3836	Infertility	Infertility	Fertility Disorders \|\| Sterility	Inability to conceive for at least one year after trying and having unprotected sex. Causes of female infertility include endometriosis, fallopian tubes obstruction, and polycystic ovary syndrome. Causes of male infertility include abnormal sperm production or function, blockage of the epididymis, blockage of the ejaculatory ducts, hypospadias, exposure to pesticides, and health related issues.
C165258	Cellosaurus Disease Terminology	C164676	Inflammatory Bowel Disease 28	Inflammatory Bowel Disease 28		An autosomal recessive condition caused by mutation(s) in the IL10RA gene, encoding interleukin-10 receptor subunit alpha. It is characterized by early-onset chronic relapsing intestinal inflammation.
C165258	Cellosaurus Disease Terminology	C129974	Inosine Triphosphatase Deficiency	Inosine Triphosphatase Deficiency		An inherited condition caused by mutation(s) in the ITPA gene, encoding inosine triphosphate pyrophosphatase. It is characterized by elevated concentrations of inosine triphosphate in erythrocytes.
C165258	Cellosaurus Disease Terminology	C164154	Intellectual Developmental Disorder with Cardiac Arrhythmia	Intellectual Developmental Disorder with Cardiac Arrhythmia		An autosomal recessive condition caused by mutation(s) in the GNB5 gene, encoding guanine nucleotide-binding protein subunit beta-5. It is characterized by severe intellectual disability, poor speech acquisition, and cardiac arrhythmia. Biallelic missense mutation in the GNB5 gene can cause language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia, which is a less-severe disorder with overlapping features.
C165258	Cellosaurus Disease Terminology	C206522	Intellectual Developmental Disorder, Autosomal Dominant 52	Intellectual Developmental Disorder, Autosomal Dominant 52	Mental Retardation, Autosomal Dominant 52	An autosomal dominant subtype of intellectual developmental disorder caused by mutation(s) in the ASH1L gene, encoding histone-lysine N-methyltransferase ASH1L.
C165258	Cellosaurus Disease Terminology	C183311	Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type	Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type	Bain Type of X-linked Syndromic Intellectual Disability	An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.
C165258	Cellosaurus Disease Terminology	C202069	Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type		An X-linked recessive condition caused by mutation(s) in the UBE2A gene, encoding ubiquitin-conjugating enzyme E2 A. It is characterized by facial dysmorphisms and intellectual impairment.
C165258	Cellosaurus Disease Terminology	C97250	Intellectual Disability	Intellectual Disability		A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
C165258	Cellosaurus Disease Terminology	C9282	Interdigitating Dendritic Cell Sarcoma	Interdigitating Dendritic Cell Sarcoma	Interdigitating Cell Sarcoma/Tumor \|\| Interdigitating Dendritic Cell Sarcoma/Tumor	A neoplastic proliferation of spindle to ovoid cells which show phenotypic features similar to those of interdigitating dendritic cells. The clinical course is generally aggressive. (WHO, 2008)
C165258	Cellosaurus Disease Terminology	C176806	Interferon Gamma Receptor 1 Deficiency	Immunodeficiency 27A	Autosomal Recessive IFNGR1 Deficiency \|\| Autosomal Recessive Interferon Gamma Receptor 1 Deficiency \|\| IFNGR1 Deficiency \|\| Interferon Gamma Receptor 1 Deficiency \|\| MSMD due to Complete IFNGR1 Deficiency \|\| MSMD due to Complete IFNgammaR1 Deficiency \|\| Mendelian Susceptibility to Mycobacterial Diseases due to Complete IFNgammaR1 Deficiency	A genetic condition caused by mutation(s) in the IFNGR1 gene, encoding interferon gamma receptor 1, resulting in impairment of interferon-gamma mediated immunity. Clinically, it is characterized by predisposition to illness caused by moderately virulent mycobacterial species.
C165258	Cellosaurus Disease Terminology	C179709	Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy	Intermediate Epidermolysis Bullosa Simplex with Cardiomyopathy		An autosomal dominant condition caused by mutation(s) in the KLHL24 gene, encoding kelch-like protein 24. It is characterized by epidermolysis bullosa and dilated cardiomyopathy.
C165258	Cellosaurus Disease Terminology	C34458	Intracranial Aneurysm	Intracranial Aneurysm		A congenital or acquired aneurysm within the cranium.
C165258	Cellosaurus Disease Terminology	C4656	Intracranial Meningioma	Intracranial Meningioma		A meningioma that arises within the cranial cavity.
C165258	Cellosaurus Disease Terminology	C35417	Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	Intrahepatic Bile Duct Carcinoma \|\| Intrahepatic Carcinoma of Bile Duct \|\| Intrahepatic Carcinoma of the Bile Duct	A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor.
C165258	Cellosaurus Disease Terminology	C84400	Intrahepatic Cholestasis	Intrahepatic Cholestasis		Impairment of the bile flow caused by obstruction within the liver.
C165258	Cellosaurus Disease Terminology	C39824	Invasive Bladder Sarcomatoid Urothelial Carcinoma	Invasive Bladder Sarcomatoid Urothelial Carcinoma	Bladder Carcinosarcoma \|\| Bladder Sarcomatoid Urothelial Carcinoma \|\| Infiltrating Bladder Urothelial Carcinoma, Sarcomatoid Variant \|\| Invasive Bladder Urothelial Carcinoma, Sarcomatoid Variant	An invasive urothelial carcinoma of the bladder that exhibits spindle cell sarcomatoid features.
C165258	Cellosaurus Disease Terminology	C4194	Invasive Breast Carcinoma of No Special Type	Invasive Breast Carcinoma of No Special Type	Infiltrating Ductal Adenocarcinoma \|\| Infiltrating Ductal Breast Carcinoma \|\| Infiltrating Ductal Carcinoma \|\| Infiltrating Ductal Carcinoma of Breast \|\| Infiltrating Ductal Carcinoma of the Breast \|\| Invasive Ductal Adenocarcinoma \|\| Invasive Ductal Breast Carcinoma \|\| Invasive Ductal Carcinoma \|\| Invasive Ductal Carcinoma of Breast \|\| Invasive Ductal Carcinoma of the Breast \|\| Invasive Ductal Carcinoma, NOS \|\| Invasive Ductal Carcinoma, NST \|\| Invasive Ductal Carcinoma, No Specific Type \|\| Invasive Ductal Carcinoma, Not Otherwise Specified	A term that refers to a large and heterogeneous group of invasive breast carcinomas that cannot be classified morphologically as any of the special histological types. (WHO 2019)
C165258	Cellosaurus Disease Terminology	C7688	Invasive Breast Ductal Carcinoma and Lobular Carcinoma	Invasive Breast Ductal Carcinoma and Lobular Carcinoma	Infiltrating Ductal and Lobular Carcinoma \|\| Invasive Duct and Lobular Carcinoma \|\| Invasive Ductal and Lobular Carcinoma	An invasive ductal breast carcinoma associated with a lobular carcinomatous component. The lobular carcinomatous component may be in situ or invasive.
C165258	Cellosaurus Disease Terminology	C7950	Invasive Breast Lobular Carcinoma	Invasive Breast Lobular Carcinoma	Classic Invasive Lobular Carcinoma \|\| Infiltrating Lobular Adenocarcinoma \|\| Infiltrating Lobular Breast Carcinoma \|\| Infiltrating Lobular Carcinoma of Breast \|\| Infiltrating Lobular Carcinoma of the Breast \|\| Invasive Lobular Adenocarcinoma \|\| Invasive Lobular Breast Carcinoma \|\| Invasive Lobular Carcinoma \|\| Invasive Lobular Carcinoma of Breast \|\| Invasive Lobular Carcinoma of the Breast \|\| Invasive Lobular Carcinoma, Classic Type	An infiltrating lobular adenocarcinoma of the breast. The malignant cells lack cohesion and are arranged individually or in a linear manner (Indian files), or as narrow trabeculae within the stroma. The malignant cells are usually smaller than those of ductal carcinoma, are less pleomorphic, and have fewer mitotic figures.
C165258	Cellosaurus Disease Terminology	C36084	Invasive Breast Micropapillary Carcinoma	Invasive Breast Micropapillary Carcinoma	Infiltrating Micropapillary Breast Carcinoma \|\| Invasive Micropapillary Breast Carcinoma	An invasive breast carcinoma characterized by the presence of clusters of malignant cells located within artifactual clear stromal spaces that resemble vascular spaces.
C165258	Cellosaurus Disease Terminology	C21743	Invasive Neuroendocrine Carcinoma of the Mouse Prostate Gland	Invasive Neuroendocrine Carcinoma of the Mouse Prostate Gland		Invasive neuroendocrine carcinoma of the prostate gland occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C202012	Isaacs Syndrome	Isaacs Syndrome	Neuromyotonia	An autoimmune syndrome characterized by continuous muscle activity on electromyography, occurring at rest and unaffected by local nerve blockade.
C165258	Cellosaurus Disease Terminology	C95802	Ischemic Cerebrovascular Accident	Ischemic Stroke	Ischemic Cerebrovascular Accident	An acute episode of focal cerebral, spinal, or retinal dysfunction caused by infarction of brain tissue.
C165258	Cellosaurus Disease Terminology	C129975	Isobutyryl-CoA Dehydrogenase Deficiency	Isobutyryl-CoA Dehydrogenase Deficiency		An inherited condition caused by mutation(s) in the ACAD8 gene, encoding isobutyryl-CoA dehydrogenase, mitochondrial. It is characterized by decreased concentrations of carnitine in the blood, encephalopathy, dilated cardiomyopathy, and anemia.
C165258	Cellosaurus Disease Terminology	C6831	Isodicentric Chromosome	Isodicentric Chromosome		A cytogenetic abnormality where non-allelic homologous recombination between inverted repeats on sister chromatids results in the formation of an isochromosome with two centromeres.
C165258	Cellosaurus Disease Terminology	C98964	Isovaleric Acidemia	Isovaleric Acidemia	Isovalericacidemia	A rare autosomal recessive inherited disorder caused by mutations in the IVD gene. It is characterized by abnormalities in the metabolism of leucine. Signs and symptoms vary from very mild to life threatening and include vomiting, seizures, lethargy, and coma.
C165258	Cellosaurus Disease Terminology	C123814	Jackson-Weiss Syndrome	Jackson-Weiss Syndrome		A rare, autosomal dominant inherited disorder caused by mutations in the FGFR2 gene. It is characterized by the premature fusion of the bones of the skull (craniosynostosis) and foot abnormalities. The craniosynostosis results in a malformed skull, widely spaced eyes, and a bulging forehead. The foot abnormalities consist of short and wide first toes, which bend away from the other toes. In addition, syndactyly in some toes may be present. The hands are almost always normal.
C165258	Cellosaurus Disease Terminology	C75457	Jacobsen Syndrome	Jacobsen Syndrome	11q Terminal Deletion Disorder	A very rare genetic syndrome caused by deletion of the terminal band of chromosome 11. It is characterized by the presence of growth and psychomotor retardation, broad nasal bridge, low set ears, strabismus, trigonocephaly, and thrombocytopenia.
C165258	Cellosaurus Disease Terminology	C84793	Jervell and Lange Nielsen Syndrome	Jervell and Lange Nielsen Syndrome		An autosomal recessive inherited syndrome caused by mutations in the KCNE1 and KCNQ1 genes. It is characterized by congenital hearing loss and arrhythmia. It is a form of long QT syndrome.
C165258	Cellosaurus Disease Terminology	C84794	Jeune Syndrome	Jeune Syndrome	Asphyxiating Thoracic Dystrophy	A rare autosomal recessive inherited syndrome characterized by a narrow thorax, micromelia, and respiratory disturbances which may lead to asphyxiation. It may be associated with bilateral microcystic renal disease which may lead to renal failure.
C165258	Cellosaurus Disease Terminology	C74996	Joubert Syndrome	Joubert Syndrome		A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea), sleep apnea, abnormal eye movements, mental retardation, and ataxia.
C165258	Cellosaurus Disease Terminology	C175702	Joubert Syndrome 17	Joubert Syndrome 17		An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CPLANE1 gene, encoding ciliogenesis and planar polarity effector 1.
C165258	Cellosaurus Disease Terminology	C148259	Joubert Syndrome 3	Joubert Syndrome 3		An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the AHI1 gene, encoding Jouberin.
C165258	Cellosaurus Disease Terminology	C159653	Joubert Syndrome 7	Joubert Syndrome 7		An autosomal recessive sub-type of Joubert syndrome caused by mutation(s) in the RPGRIP1L gene, encoding a protein thought to function in programmed cell death. It is characterized by cerebellar and oculomotor apraxia, hypotonia and psychomotor delay, neonatal respiratory abnormalities, renal abnormalities, and retinal dystrophy.
C165258	Cellosaurus Disease Terminology	C181002	Joubert Syndrome 9	Joubert Syndrome 9		An autosomal recessive subtype of Joubert syndrome caused by mutation(s) in the CC2D2A gene, encoding coiled-coil and C2 domain-containing protein 2A.
C165258	Cellosaurus Disease Terminology	C90598	Junctional Epidermolysis Bullosa	Junctional Epidermolysis Bullosa		Epidermolysis bullosa characterized by separation of the skin through the lamina lucida resulting in blister formation. It includes lethal and non-lethal variants.
C165258	Cellosaurus Disease Terminology	C4231	Junctional Nevus	Junctional Nevus	Intraepidermal Nevus \|\| Intraepidermal Nevus of Skin \|\| Intraepidermal Nevus of the Skin \|\| Junction Nevus \|\| Junctional Melanocytic Nevus \|\| Junctional Nevus of Skin \|\| Junctional Nevus of the Skin \|\| Junctional Skin Nevus	A nevus characterized by the presence of an intraepidermal proliferation of nevus cells. The nevus cells form multiple nests in the dermal-epidermal junction. It presents as a small, slightly raised, pigmented skin lesion.
C165258	Cellosaurus Disease Terminology	C129868	Juvenile Absence Epilepsy	Juvenile Absence Epilepsy		A subtype of idiopathic generalized epilepsy, whose manifestations occur around puberty, associated with mutation(s) in the EFHC1 gene, encoding EF-hand domain-containing protein 1.
C165258	Cellosaurus Disease Terminology	C147072	Juvenile Huntington Disease	Juvenile Huntington Disease		An early-onset form of Huntington disease (before age 20) caused by trinucleotide repeat expansion in the HTT gene, encoding huntingtin.
C165258	Cellosaurus Disease Terminology	C9233	Juvenile Myelomonocytic Leukemia	Juvenile Myelomonocytic Leukemia		A clonal myeloid disorder of childhood previously classified as myelodysplastic/myeloproliferative neoplasm. It is characterized by the presence of monocytic proliferation in peripheral blood, less than 20% blasts in bone marrow and peripheral blood, splenomegaly, and the absence of BCR-ABL1 fusion. Almost all patients carry mutations of the RAS pathway.
C165258	Cellosaurus Disease Terminology	C84796	Juvenile Myoclonic Epilepsy	Juvenile Myoclonic Epilepsy		An epilepsy characterized by myoclonic jerks, generalized tonic-clonic seizures, and sometimes absence seizures. It appears during adolescence.
C165258	Cellosaurus Disease Terminology	C131861	Juvenile Paget Disease	Juvenile Paget Disease	Paget Disease of Bone-5	A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase.
C165258	Cellosaurus Disease Terminology	C75483	Juvenile X-Linked Retinoschisis	Juvenile X-Linked Retinoschisis		A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight.
C165258	Cellosaurus Disease Terminology	C4162	Juxtaglomerular Cell Tumor	Juxtaglomerular Cell Tumor	Juxtaglomerular Neoplasm \|\| Juxtaglomerular Tumor \|\| Reninoma	A benign, well circumscribed neoplasm arising from the cortex of the kidney. It secrets renin and the patients usually present with severe hypertension and marked hypokalemia. Morphologically, it is characterized by the presence of sheets of polygonal or spindle-shaped neoplastic cells forming a hemangiopericytic pattern.
C165258	Cellosaurus Disease Terminology	C124837	Kabuki Syndrome	Kabuki Syndrome	KMS \|\| Kabuki Make-Up Syndrome \|\| Niikawa-Kuroki Syndrome	A rare, autosomal dominant or X-linked dominant inherited syndrome caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene. It is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with the lower lids turned out at the outside edges, a flat nose, and large protruding earlobes, developmental delay and intellectual disability.
C165258	Cellosaurus Disease Terminology	C84797	Kartagener Syndrome	Kartagener Syndrome		A rare autosomal recessive inherited syndrome characterized by situs inversus, bronchiectasis, and chronic sinusitis. There is a defect in the function of the cilia that line the respiratory tract.
C165258	Cellosaurus Disease Terminology	C173626	Karyomegalic Interstitial Nephritis	Karyomegalic Interstitial Nephritis		An autosomal recessive condition causes by mutation(s) in the FAN1 gene, encoding Fanconi-associated nuclease 1. It is characterized by renal failure, interstitial fibrosis, glomerular sclerosis, and atrophic tubules.
C165258	Cellosaurus Disease Terminology	C34825	Kawasaki Disease	Kawasaki Disease	Mucocutaneous Lymph Node Syndrome	A vasculitis characterized by inflammation of the arteries, particularly the coronary arteries. The vasculitis may lead to aneurysm formation and possibly, heart attacks. It affects young children who usually present with persistent high fever, redness of the mucous membranes of the mouth, redness of the palms and soles, skin rashes, lymphadenitis, and joint pain and swelling.
C165258	Cellosaurus Disease Terminology	C84798	Kearns-Sayre Syndrome	Kearns-Sayre Syndrome		A rare mitochondrial myopathy characterized by a progressive limitation of eye movements, leading to immobility and eye drop. It may be associated with muscle weakness, heart block, hearing loss, ataxia and short stature.
C165258	Cellosaurus Disease Terminology	C186306	Keipert Syndrome	Keipert Syndrome		An X-linked recessive condition caused by mutation(s) in the GPC4 gene, encoding glypican-4. It is characterized by multiple congenital abnormalities, including distinctive facial dysmorphism, sensorineural hearing loss, variable learning difficulties, and digital anomalies.
C165258	Cellosaurus Disease Terminology	C3146	Keratoacanthoma	Keratoacanthoma	Cutaneous Keratoacanthoma \|\| Skin Keratoacanthoma	A dome-shaped, rapidly growing skin lesion composed of well differentiated squamous cells. It usually occurs on sun-exposed areas of the body, most often the head, neck, and limbs. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. Keratoacanthomas affect males more frequently than females and the majority tend to regress spontaneously.
C165258	Cellosaurus Disease Terminology	C3888	Kidney Angiomyolipoma	Kidney Angiomyolipoma	Angiomyolipoma of Kidney \|\| Angiomyolipoma of the Kidney \|\| Renal Angiomyolipoma	An angiomyolipoma arising from the kidney.
C165258	Cellosaurus Disease Terminology	C7572	Kidney Medullary Carcinoma	Kidney Medullary Carcinoma	Renal Medullary Carcinoma	A type of renal carcinoma affecting mostly young African-Americans. It is located in the medulla of the kidney, and follows an aggressive clinical course. Most reported cases have shown metastatic disease at the time of diagnosis.
C165258	Cellosaurus Disease Terminology	C3150	Kidney Neoplasm	Kidney Neoplasm	Kidney Tumor \|\| Neoplasm of Kidney \|\| Neoplasm of the Kidney \|\| Renal Neoplasm \|\| Renal Tumor \|\| Renal Tumors \|\| Tumor of Kidney \|\| Tumor of the Kidney	A benign or malignant neoplasm affecting the kidney. Representative examples of benign renal neoplasms include fibroma, lipoma, oncocytoma, and juxtaglomerular cell tumor. Representative examples of malignant renal neoplasms include renal cell carcinoma, renal pelvis carcinoma, Wilms tumor, rhabdoid tumor, sarcoma, and lymphoma.
C165258	Cellosaurus Disease Terminology	C116317	Kidney Small Cell Carcinoma	Kidney Small Cell Neuroendocrine Carcinoma	Kidney Small Cell Carcinoma \|\| Renal Small Cell Carcinoma	A very rare small cell neuroendocrine carcinoma that arises from the kidney.
C165258	Cellosaurus Disease Terminology	C40407	Kidney Wilms Tumor	Kidney Wilms Tumor	Kidney Nephroblastoma \|\| Renal Wilms Tumor \|\| Renal Wilms' Tumor \|\| Wilms Tumor of the Kidney \|\| Wilms' Tumor of the Kidney	An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver.
C165258	Cellosaurus Disease Terminology	C129976	Kleefstra Syndrome	Kleefstra Syndrome	Chromosome 9q34.3 Deletion Syndrome	A condition caused by mutation or deletion of the EHMT1 gene, encoding histone-lysine N-methyltransferase EHMT1. It is characterized by severe intellectual disability, hypotonia, cardiac defects, and characteristic facial features.
C165258	Cellosaurus Disease Terminology	C34752	Klinefelter Syndrome	Klinefelter Syndrome	Hypogonadotropic Hypogonadism \|\| Klinefelter's Syndrome \|\| XXY Syndrome \|\| XXY Syndrome (Klinefelter Syndrome)	A sex chromosome disorder caused by the presence of an extra X chromosome in the male karyotype. Affected individuals are infertile and have a small penis and testes. They tend to have tall stature and long legs and may have difficulties with speech and language development. Gynecomastia may be present.
C165258	Cellosaurus Disease Terminology	C98967	Klippel-Feil Syndrome	Klippel-Feil Syndrome		A rare congenital syndrome characterized by the fusion of the vertebrae in the cervical spine. Patients present with a short neck and restricted mobility of the upper spine. Other signs and symptoms include scoliosis, spina bifida, cleft palate, and rib malformations.
C165258	Cellosaurus Disease Terminology	C84801	Klippel-Trenaunay-Weber Syndrome	Klippel-Trenaunay-Weber Syndrome		A rare syndrome characterized by the presence of port-wine stain (a vascular malformation), varicose veins, and hypertrophy of the soft tissues and bones in an extremity. It usually affects one extremity, most commonly a leg.
C165258	Cellosaurus Disease Terminology	C125594	Kniest Dysplasia	Kniest Dysplasia		A rare, autosomal dominant inherited bone growth disorder caused by mutations in the COL2A1gene. It is characterized by short stature (dwarfism) and other skeletal abnormalities, round, flat face with bulging and wide-set eyes, myopia and retinal detachment that can lead to blindness.
C165258	Cellosaurus Disease Terminology	C201594	Knobloch Syndrome 1	Knobloch Syndrome 1		An autosomal recessive condition caused by mutation(s) in the COL18A1 gene, encoding collagen alpha-1(XVIII) chain. It is characterized by eye abnormalities, including high myopia and vitreoretinal degeneration.
C165258	Cellosaurus Disease Terminology	C61254	Krabbe Disease	Krabbe Disease	Galactosylceramide Lipidosis \|\| Globoid Cell Leukodystrophy	A rare inherited neurodegenerative disorder that belongs to the group of leukodystrophies. It is characterized by myelin destruction, gliosis in the brain, and the presence of multinucleated globoid cells. Signs and symptoms include irritability, mental and motor developmental disturbances, muscle weakness, seizures, blindness, and deafness.
C165258	Cellosaurus Disease Terminology	C3153	Krukenberg Tumor	Krukenberg Tumor	Krukenberg Neoplasm	Metastatic signet-ring cell carcinoma in the ovary. The primary site is the gastrointestinal tract or breast.
C165258	Cellosaurus Disease Terminology	C4540	Lacrimal Gland Adenoid Cystic Carcinoma	Lacrimal Gland Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma of Lacrimal Gland \|\| Adenoid Cystic Carcinoma of the Lacrimal Gland	A carcinoma that arises from the lacrimal gland. It is characterized by the presence of malignant epithelial cells that form cribriform, tubular, and solid patterns.
C165258	Cellosaurus Disease Terminology	C98969	Lactic Acidosis	Lactic Acidosis		Metabolic acidosis characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia.
C165258	Cellosaurus Disease Terminology	C84804	Lafora Disease	Lafora Disease		A rare, fatal autosomal recessive inherited disorder caused by mutations in the genes EPM2A and EPM2b. It is characterized by the presence of cytoplasmic inclusion bodies called Lafora bodies in many cells of the body including neurons, muscle cells, and liver cells. The Lafora bodies contain mucopolysaccharides. Signs and symptoms include seizures, myoclonus, ataxia, and dementia.
C165258	Cellosaurus Disease Terminology	C84806	Landau-Kleffner Syndrome	Landau-Kleffner Syndrome	Acquired Epileptic Aphasia	A rare childhood syndrome characterized by the progressive or sudden inability to understand and use spoken language (aphasia) and paroxysmal electrical brain waves. Patients develop epileptic seizures and behavioral changes.
C165258	Cellosaurus Disease Terminology	C126876	Langer Mesomelic Dysplasia	Langer Mesomelic Dysplasia		An autosomal recessive condition caused by mutation (s) in the SHOX gene, encoding short stature homeobox protein. The condition is characterized by shortening of the bones of the middle segments of the limbs.
C165258	Cellosaurus Disease Terminology	C3107	Langerhans Cell Histiocytosis	Langerhans Cell Histiocytosis	Langerhans Cell Granulomatosis	A neoplastic proliferation of Langerhans cells which contain Birbeck granules by ultrastructural examination. Three major overlapping syndromes are recognized: eosinophilic granuloma, Letterer-Siwe disease, and Hand-Schuller-Christian disease. The clinical course is generally related to the number of organs affected at presentation. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C4044	Laryngeal Squamous Cell Carcinoma	Laryngeal Squamous Cell Carcinoma	Epidermoid Carcinoma of Larynx \|\| Epidermoid Carcinoma of the Larynx \|\| Laryngeal Conventional Squamous Cell Carcinoma \|\| Laryngeal Epidermoid Carcinoma \|\| Larynx Epidermoid Carcinoma \|\| Larynx Squamous Cell Carcinoma \|\| Squamous Cell Carcinoma of Larynx \|\| Squamous Cell Carcinoma of the Larynx	A squamous cell carcinoma that arises from the larynx. It is the most common histologic type of laryngeal carcinoma. It can arise from the glottis, supraglottic area, or it can be transglottic. Glottic squamous cell carcinoma is the most frequent laryngeal carcinoma in the United States. The symptoms, clinical behavior and the prognosis depend on the site of origin within the larynx.
C165258	Cellosaurus Disease Terminology	C202070	Late-Onset Retinal Degeneration	Late-Onset Retinal Degeneration		An autosomal dominant condition caused by mutation in the C1QTNF5 gene, encoding complement C1q tumor necrosis factor-related protein 5. It is characterized by dark adaptation abnormalities, sub-retinal pigment epithelium lipid-rich material deposits, choroidal neovascularization, and chorioretinal atrophy. The typical onset is in the fifth or sixth decade of life.
C165258	Cellosaurus Disease Terminology	C129075	Leber Congenital Amaurosis	Leber Congenital Amaurosis		A congenital retinopathy that is associated with mutation(s) in at least eighteen genes, typically characterized by severe visual impairment.
C165258	Cellosaurus Disease Terminology	C84808	Leber Hereditary Optic Atrophy	Leber Hereditary Optic Atrophy		A hereditary disorder caused by mitochondrial mutations, resulting in the degeneration of the retinal ganglion cells and optic atrophy. It is characterized by an acute or subacute loss of central vision. It may initially affect one eye only, but eventually the central loss of vision becomes bilateral.
C165258	Cellosaurus Disease Terminology	C157266	Left Ventricular Noncompaction 7	Left Ventricular Noncompaction 7		An autosomal dominant sub-type of left ventricular noncompaction syndrome caused by heterozygous mutation(s) of the MIB1 gene, encoding E3 ubiquitin-protein ligase MIB1.
C165258	Cellosaurus Disease Terminology	C99544	Left Ventricular Non-Compaction Syndrome	Left Ventricular Non-Compaction Syndrome	LV Non-Compaction Syndrome \|\| LVNC \|\| Left Ventricular Non-Compaction Cardiomyopathy	An uncommon congenital abnormality where the left ventricular myocardium fails to compact during embryonic development, leading to cardiomyopathy with a variable degree of ventricular dysfunction. There is genetic heterogeneity and phenotypic variability. Characteristically, there are typically deep trabeculations in the noncompacted area, with varying proportions of the LV myocardium compacted. LV noncompaction is associated with rhythm abnormalities including Wolff-Parkinson-White syndrome, conduction defects, and ventricular tachyarrhythmias.
C165258	Cellosaurus Disease Terminology	C84814	Leigh Disease	Leigh Disease	Leigh Syndrome	An inherited disorder affecting the nervous system, caused by genetic mutations in the mitochondrial DNA or deficiency of pyruvate dehydrogenase. Signs and symptoms appear in infancy and include loss of the motor abilities, poor sucking abilities, irritability, lack of muscle tone, and seizures.
C165258	Cellosaurus Disease Terminology	C3157	Leiomyoma	Leiomyoma	Fibroid \|\| Leiomyomatous Tumor	A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
C165258	Cellosaurus Disease Terminology	C3158	Leiomyosarcoma	Leiomyosarcoma		An uncommon, aggressive malignant smooth muscle neoplasm, usually occurring in post-menopausal women. It is characterized by a proliferation of neoplastic spindle cells. Morphologic variants include epithelioid, granular cell, inflammatory and myxoid leimyosarcomas.
C165258	Cellosaurus Disease Terminology	C84816	Lennox-Gastaut Syndrome	Lennox-Gastaut Syndrome		A syndrome characterized by frequent episodes of epilepsy during childhood. The epileptic episodes may be tonic, atonic, myoclonic, or absence seizures. It may be accompanied by mental retardation and behavioral problems.
C165258	Cellosaurus Disease Terminology	C84820	LEOPARD Syndrome	LEOPARD Syndrome	Multiple Lentigines Syndrome	A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.
C165258	Cellosaurus Disease Terminology	C126560	Leri-Weill Dyschondrosteosis	Leri-Weill Dyschondrosteosis		A bone growth disorder inherited in a pseudoautosomal dominant pattern caused by mutations in the SHOX gene. It is characterized by short long bones in the arms and legs, short stature, and abnormalities of the wrist and forearm bones which may cause pain and limit wrist movement.
C165258	Cellosaurus Disease Terminology	C61255	Lesch-Nyhan Syndrome	Lesch-Nyhan Syndrome		An X-linked inherited syndrome caused by mutations in the gene that encodes the enzyme hypoxanthine-guanine phosphoribosyltransferase, resulting in accumulation of uric acid in the body. It affects males and is characterized by neurologic defects, moderate mental retardation, muscle hypotonia, and a tendency for self-mutilation (self-biting of lips, tongue, and fingertips).
C165258	Cellosaurus Disease Terminology	C154618	Lethal Neonatal Rigidity and Multifocal Seizure Syndrome	Lethal Neonatal Rigidity and Multifocal Seizure Syndrome	RMFSL
C165258	Cellosaurus Disease Terminology	C3160	Letterer-Siwe Disease	Letterer-Siwe Disease		A multifocal, multisystem form of Langerhans-cell histiocytosis. There is involvement of multiple organ systems including the bones, skin, liver, spleen, and lymph nodes. Patients are usually infants presenting with fever, hepatosplenomegaly, lymphadenopathy, bone and skin lesions, and pancytopenia.
C165258	Cellosaurus Disease Terminology	C27874	Leukocyte Adhesion Deficiency	Leukocyte Adhesion Deficiency		A rare autosomal recessive immunodeficiency disorder caused by deficiency of CD18 expression. It is characterized by defects in neutrophil adhesion and bacterial infections.
C165258	Cellosaurus Disease Terminology	C154615	Leukocyte Adhesion Deficiency Type 3	Leukocyte Adhesion Deficiency Type 3		An autosomal recessive condition caused by mutation(s) in the FERMT3 gene, encoding fermitin family homolog 3. It is characterized by a defect in activation of all beta integrins. It manifests clinically as severe infections with marked leukocytosis, accompanied by life-threatening bleeding episodes.
C165258	Cellosaurus Disease Terminology	C61253	Leukodystrophy	Leukodystrophy		A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in the development of the myelin sheaths in the white matter. Clinical signs and symptoms include developmental delays, mental retardation, dementia, seizures, loss of motor skills, and muscle weakness. Representative examples include metachromatic leukodystrophy, Krabbe disease, Canavan disease, and Alexander disease.
C165258	Cellosaurus Disease Terminology	C171603	Leukoencephalopathy with Ataxia	Leukoencephalopathy with Ataxia	CC2L \|\| CLCN2-Related Leukoencephalopathy	An autosomal recessive condition caused by mutation(s) in the CLCN2 gene, encoding chloride channel protein 2. It is characterized by variable clinical features including mild cerebellar ataxia, chorioretinopathy, visual field defects, and headaches. A characteristic pattern of white matter abnormalities is evident on MRI.
C165258	Cellosaurus Disease Terminology	C188991	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation	Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation		An autosomal recessive condition caused by mutation(s) in the DARS2 gene, encoding aspartate--tRNA ligase, mitochondrial. It is characterized by slowly developing progressive cerebellar ataxia, spasticity, dorsal column dysfunction, and may also include a mild cognitive deficit or decline.
C165258	Cellosaurus Disease Terminology	C122664	Leukoencephalopathy with Vanishing White Matter	Leukoencephalopathy with Vanishing White Matter		A rare, progressive neurological disorder inherited in an autosomal recessive pattern. It is caused by mutations in the EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5 genes, resulting in deterioration of central nervous system's white matter. Usually, there are no signs and symptoms of the disorder at birth. During early childhood, affected individuals develop spasticity and ataxia which may be associated with deterioration of the metal function. Examination of the brain at autopsy reveals normal gray matter while the white matter is soft and gelatinous with numerous small cavities.
C165258	Cellosaurus Disease Terminology	C84826	Lewy Body Dementia	Lewy Body Dementia	Lewy Body Disease	A progressive form of dementia characterized by the presence of protein deposits called Lewy bodies in the midbrain and cerebral cortex, and loss of cholinergic and dopaminergic neurons. The signs and symptoms overlap with Alzheimer and Parkinson disease.
C165258	Cellosaurus Disease Terminology	C201589	Li-Campeau Syndrome	Li-Campeau Syndrome		An autosomal recessive syndromic condition caused by mutations(s) in the UBR7 gene, encoding putative E3 ubiquitin-protein ligase UBR7. It is characterized by global developmental delay, impaired intellectual development, dysmorphic facial features, variable cardiac and urogenital system abnormalites, and hypothyroidism.
C165258	Cellosaurus Disease Terminology	C3476	Li-Fraumeni Syndrome	Li-Fraumeni Syndrome	Li-Fraumeni Familial Cancer Susceptibility Syndrome \|\| Li-Fraumeni Syndrome, TP53-Associated \|\| TP53-Associated Li-Fraumeni Syndrome	An autosomal dominant cancer predisposition syndrome caused by germline mutations of the TP53 gene. It is associated with breast carcinoma, choroid plexus carcinoma, adrenal cortex carcinoma, astrocytic tumors, medulloblastoma, soft tissue sarcoma, osteosarcoma, and leukemia.
C165258	Cellosaurus Disease Terminology	C122657	LIG4 Syndrome	LIG4 Syndrome		A very rare genetic disorder caused by mutation in the LIG4 gene. It is characterized by unusual facial features, microcephaly, growth and developmental delay, severe immunodeficiency, and skin abnormalities.
C165258	Cellosaurus Disease Terminology	C84828	Limb-Girdle Muscular Dystrophy	Limb-Girdle Muscular Dystrophy		A group of autosomal recessive and less frequently autosomal dominant muscular dystrophies affecting the muscles of the hips and shoulders.
C165258	Cellosaurus Disease Terminology	C148318	Limb-Girdle Muscular Dystrophy Type 1C	Limb-Girdle Muscular Dystrophy Type 1C		A sub-type of limb-girdle muscular dystrophy caused by mutation(s) in the CAV3 gene, encoding caveolin-3.
C165258	Cellosaurus Disease Terminology	C142079	Limb-Girdle Muscular Dystrophy Type 2A	Limb-Girdle Muscular Dystrophy Type 2A	Autosomal Recessive Muscular Dystrophy Limb-Girdle 1 \|\| LGMDR1	An autosomal recessive condition caused by mutation(s) in the CAPN3 gene, encoding calpain-3. It is characterized by muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
C165258	Cellosaurus Disease Terminology	C142080	Limb-Girdle Muscular Dystrophy Type 2B	Limb-Girdle Muscular Dystrophy Type 2B	Autosomal Recessive Muscular Dystrophy Limb-Girdle 2 \|\| LGMDR2	An autosomal recessive condition caused by mutation(s) in the DYSF gene, encoding dysferlin. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
C165258	Cellosaurus Disease Terminology	C142081	Limb-Girdle Muscular Dystrophy Type 2D	Limb-Girdle Muscular Dystrophy Type 2D	Autosomal Recessive Muscular Dystrophy Limb-Girdle 3 \|\| LGMD2D \|\| LGMDR3	An autosomal recessive condition caused by mutation(s) in the SGCA gene, encoding alpha-sarcoglycan. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
C165258	Cellosaurus Disease Terminology	C142082	Limb-Girdle Muscular Dystrophy Type 2Z	Limb-Girdle Muscular Dystrophy Type 2Z	Autosomal Recessive Muscular Dystrophy Limb-Girdle 21 \|\| LGMDR21	An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.
C165258	Cellosaurus Disease Terminology	C4042	Lip Squamous Cell Carcinoma	Lip Squamous Cell Carcinoma	Lip SCC \|\| SCC of Lip \|\| SCC of the Lip \|\| Squamous Cell Carcinoma of Lip \|\| Squamous Cell Carcinoma of the Lip	A squamous cell carcinoma that arises from the lip. It affects males more often than females and it usually involves the lower lip. Risk factors include UV exposure, alcohol consumption, smoking, and immunosuppression.
C165258	Cellosaurus Disease Terminology	C84829	Lipoid Proteinosis of Urbach and Wiethe	Lipoid Proteinosis of Urbach and Wiethe		A rare, autosomal recessive metabolic disorder characterized by hoarseness of voice, eyelid beading, skin lesions, and seizures.
C165258	Cellosaurus Disease Terminology	C3192	Lipoma	Lipoma		A benign, usually painless, well-circumscribed lipomatous tumor composed of adipose tissue.
C165258	Cellosaurus Disease Terminology	C202076	Lipoprotein(a) Quantitative Trait Locus	Lipoprotein(a) Quantitative Trait Locus		A metabolic disorder caused by polymorphisms in the LPA gene that affect the number of kringle-4 repeats in the encoded protein, apolipoprotein(a) (apo(a)). The number of kringle-4 repeats are inversely correlated with apo(a) expression in the blood. Thus, forms of apo(a) with fewer repeats are expressed at elevated levels, which leads to increased concentrations of apo(a)-containing lipoprotein particles and an elevated risk for atherosclerosis, cardiovascular disease, and coronary artery disease.
C165258	Cellosaurus Disease Terminology	C3194	Liposarcoma	Liposarcoma	Malignant Lipomatous Neoplasm	A usually painless malignant tumor that arises from adipose tissue. Microscopically, it may contain a spectrum of neoplastic adipocytes ranging from lipoblasts to pleomorphic malignant adipocytes. Morphologic variants include: well differentiated, dedifferentiated, pleomorphic, and myxoid liposarcoma. The metastatic potential is higher in less differentiated tumors.
C165258	Cellosaurus Disease Terminology	C103921	Lissencephaly	Lissencephaly		A rare genetic brain malformation characterized by smooth folds and grooves in the brain. There are approximately 20 different types of lissencephaly that are identified by various symptoms.
C165258	Cellosaurus Disease Terminology	C148461	Lissencephaly 3	Lissencephaly 3		An autosomal dominant sub-type of lissencephaly caused by mutation(s) in the TUBA1A gene, encoding adhesion tubulin alpha-1A chain.
C165258	Cellosaurus Disease Terminology	C118630	Liver Adenosquamous Carcinoma	Liver Adenosquamous Carcinoma		A rare carcinoma that arises from the intrahepatic bile ducts and is composed of malignant glandular cells and malignant squamous cells.
C165258	Cellosaurus Disease Terminology	C7106	Liver and Intrahepatic Bile Duct Epithelial Neoplasm	Liver Epithelial Neoplasm	Epithelial Hepatic and Intrahepatic Bile Duct Neoplasm \|\| Liver and Intrahepatic Bile Duct Epithelial Neoplasm	A benign or malignant epithelial neoplasm that affects the liver.
C165258	Cellosaurus Disease Terminology	C4438	Liver Angiosarcoma	Liver Angiosarcoma	Angiosarcoma of Liver \|\| Angiosarcoma of the Liver \|\| Hemangiosarcoma of Liver \|\| Hemangiosarcoma of the Liver \|\| Hepatic Angiosarcoma \|\| Hepatic Hemangiosarcoma \|\| Liver Hemangiosarcoma \|\| Primary Angiosarcoma of Liver \|\| Primary Angiosarcoma of the Liver	A malignant vascular neoplasm arising from the liver.
C165258	Cellosaurus Disease Terminology	C5751	Liver Mesenchymal Hamartoma	Liver Mesenchymal Hamartoma	Hepatic Mesenchymal Hamartoma \|\| Liver MH \|\| Mesenchymal Hamartoma of Liver \|\| Mesenchymal Hamartoma of the Liver	A multicystic mesenchymal tumor that arises from the liver during fetal development. It is the third most common pediatric liver tumor following hepatoblastoma and infantile hemangioma. Cytogenetic and molecular studies have revealed the presence of chromosomal rearrangements involving chromosome 19q13.4 or androgenetic-biparental mosaicism. These findings support the evidence that it is a neoplastic process and not only a developmental process. Clinically, it usually presents as an abdominal mass associated with abdominal distention. Morphologically, it consists of hypocellular fibromyxoid stroma and bland spindle cell proliferation. It generally has a benign clinical course. Following resection, the prognosis is good.
C165258	Cellosaurus Disease Terminology	C96792	Liver Undifferentiated Carcinoma	Liver Undifferentiated Carcinoma	Undifferentiated Liver Carcinoma \|\| Undifferentiated Primary Liver Carcinoma	A rare carcinoma that arises from the liver. The diagnosis is made by immunohistochemical studies. Morphologic studies alone cannot establish the diagnosis of carcinoma or further subclassify the malignant tumor.
C165258	Cellosaurus Disease Terminology	C72069	Localized Scleroderma	Localized Scleroderma	Morphea	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. Localized scleroderma typically affects the skin, with formation of patches or lines of thick and unyielding tissue; there can be muscle and underlying tissue involvement as well as occasional joint complications. The affected areas of skin can be restrictive and disfiguring. The shape, depth and location of the affected area is used to classify one of the four types of local scleroderma. An individual can have a combination of localized scleroderma types.
C165258	Cellosaurus Disease Terminology	C75119	Loeys-Dietz Syndrome Type 1	Loeys-Dietz Syndrome Type 1		A rare autosomal dominant syndrome caused by mutations in the TGFBR1 gene. It is characterized by vascular abnormalities (aortic and arterial aneurysms, aortic dissection, and tortuosity of the arteries), hypertelorism, bifid uvula, and early fusion of the skull bones.
C165258	Cellosaurus Disease Terminology	C114768	Loeys-Dietz Syndrome Type 2	Loeys-Dietz Syndrome Type 2	Loeys-Dietz Syndrome Type II	A rare autosomal dominant inherited disorder of connective tissue caused by mutations in either the TGFBR1 or TGFBR2 gene. Like Loeys-Dietz syndrome type I the disease is characterized by enlargement of the aorta and other arteries, and arterial tortuosity, but skeletal signs are typically less severe or absent in type 2. Skin abnormalities, such as velvety skin are often present in type 2.
C165258	Cellosaurus Disease Terminology	C186786	Loeys-Dietz Syndrome Type 3	Loeys-Dietz Syndrome Type 3		Loeys-Dietz syndrome caused by mutation(s) in the SMAD3 gene, encoding mothers against decapentaplegic homolog 3.
C165258	Cellosaurus Disease Terminology	C188143	Loeys-Dietz Syndrome Type 5	Loeys-Dietz Syndrome Type 5	Rienhoff Syndrome	Loeys-Dietz syndrome caused by mutation(s) in the TGFB3 gene, encoding transforming growth factor beta-3 proprotein.
C165258	Cellosaurus Disease Terminology	C34786	Long QT Syndrome	Long QT Syndrome		A ventricular arrhythmia characterized by a long QT interval, and accompanied by syncopal episodes sometimes leading to sudden death due to paroxysmal ventricular arrhythmia. This arrhythmia is associated with a prolongation of repolarization following depolarization of the cardiac ventricles. The prolongation of the Q-T interval combined with torsades de pointes manifests as several different forms; some may be acquired or congenital; some may lead to serious arrhythmia and sudden cardiac death.
C165258	Cellosaurus Disease Terminology	C85049	Long QT Syndrome 1	Long QT Syndrome 1	Romano-Ward Syndrome	An autosomal dominant condition caused by mutation(s) in the KCNQ1 gene, encoding potassium voltage-gated channel subfamily KQT member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
C165258	Cellosaurus Disease Terminology	C192195	Long QT Syndrome 11	Long QT Syndrome 11		An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the AKAP9 gene, encoding A-kinase anchor protein 9.
C165258	Cellosaurus Disease Terminology	C192202	Long QT Syndrome 12	Long QT Syndrome 12		An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the SNTA1 gene, encoding alpha-1-syntrophin.
C165258	Cellosaurus Disease Terminology	C177534	Long QT Syndrome 14	Long QT Syndrome 14		An autosomal dominant subtype of long QT syndrome caused by mutation(s) in the CALM1 gene, encoding calmodulin-1.
C165258	Cellosaurus Disease Terminology	C137957	Long QT Syndrome 2	Long QT Syndrome 2		An autosomal dominant condition caused by mutation(s) in the KCNH2 gene, encoding potassium voltage-gated channel subfamily H member 2. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
C165258	Cellosaurus Disease Terminology	C137959	Long QT Syndrome 3	Long QT Syndrome 3		An autosomal dominant condition caused by mutation(s) in the SCN5A gene, encoding sodium channel protein type 5 subunit alpha. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
C165258	Cellosaurus Disease Terminology	C172094	Long QT Syndrome 5	Long QT Syndrome 5		An autosomal dominant condition caused by mutation(s) in the KCNE1 gene, encoding potassium voltage-gated channel subfamily E member 1. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
C165258	Cellosaurus Disease Terminology	C84559	Long QT Syndrome 7	Long QT Syndrome 7	Andersen Syndrome \|\| Andersen-Tawil syndrome	A subtype of long QT syndrome caused by mutation(s) in the KCNJ2 gene, encoding inward rectifier potassium channel 2. It is characterized by ventricular arrhythmia, muscle weakness, and developmental abnormalities which include micrognathia, low-set ears and deformities of the fingers.
C165258	Cellosaurus Disease Terminology	C142894	Long QT Syndrome 8	Long QT Syndrome 8	Timothy Syndrome	An autosomal dominant condition caused by mutation(s) in the CACNA1C gene, encoding voltage-dependent L-type calcium channel subunit alpha-1C. It is characterized by a prolonged QT interval that may result in torsade de pointes, ventricular fibrillation and/or sudden cardiac death.
C165258	Cellosaurus Disease Terminology	C129929	Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency	LCHAD Deficiency	An inherited condition caused by mutation(s) in the HADHA gene, encoding trifunctional enzyme subunit alpha, mitochondrial. It is characterized by hypoglycemia, hypotonia, neuropathy, cardiomyopathy, pigmentary retinopathy and may be associated with sudden death.
C165258	Cellosaurus Disease Terminology	C39795	Loss of Chromosome 14q	Loss of Chromosome 14q	del(14q)	A cytogenetic abnormality that refers to the loss of all or part of the long arm of chromosome 14 (14q).
C165258	Cellosaurus Disease Terminology	C141398	Loss of Chromosome 4p	Loss of Chromosome 4p	4p Deletion \|\| del(4p)	A cytogenetic abnormality that refers to loss of all or part of the short arm of chromosome 4 (4p).
C165258	Cellosaurus Disease Terminology	C45202	Low Grade Fibromyxoid Sarcoma	Low Grade Fibromyxoid Sarcoma		A low-grade, late-metastasizing variant of fibrosarcoma characterized by alternating fibrous and myxoid areas and a whorling growth pattern. The neoplastic cells have a spindle morphology, and lack hyperchromasia or significant nuclear atypia. Approximately 40% of cases show the focal presence of collagen rosettes. A t(7;16)(q33;p11) translocation has been identified in the majority of cases, associated with the presence of FUS-CREB3L2 fusion protein. Rare cases carry the t(11;16)(p11;p11) translocation which is associated with the presence of the FUS-CREB3L1 fusion protein.
C165258	Cellosaurus Disease Terminology	C105556	Low Grade Ovarian Serous Adenocarcinoma	Ovarian Low Grade Serous Adenocarcinoma	Invasive Ovarian Micropapillary Serous Carcinoma \|\| Low Grade Ovarian Serous Adenocarcinoma \|\| Low-Grade Ovarian Serous Adenocarcinoma \|\| Ovarian Low-Grade Serous Adenocarcinoma	A slow-growing serous adenocarcinoma that arises from the ovary. It usually originates from borderline neoplastic processes or adenofibromas. It is characterized by the presence of low grade cytologic features and infrequent mitotic figures.
C165258	Cellosaurus Disease Terminology	C8171	Lower Gingival Squamous Cell Carcinoma	Lower Gingival Squamous Cell Carcinoma	Lower Gingival SCC \|\| Lower Gum SCC \|\| Lower Gum Squamous Cell Carcinoma \|\| SCC of Lower Gingiva \|\| SCC of Lower Gum \|\| SCC of the Lower Gingiva \|\| SCC of the Lower Gum \|\| Squamous Cell Carcinoma of Lower Gingiva \|\| Squamous Cell Carcinoma of Lower Gum \|\| Squamous Cell Carcinoma of the Lower Gingiva \|\| Squamous Cell Carcinoma of the Lower Gum	A squamous cell carcinoma of the oral cavity that arises from the lower gingiva.
C165258	Cellosaurus Disease Terminology	C126747	Lubs X-Linked Mental Retardation Syndrome	Lubs X-Linked Mental Retardation Syndrome	MECP2 Duplication Syndrome	An X-linked inherited syndrome caused by duplication or triplication of the gene encoding methyl-CpG-binding protein-2 (MECP2). It is characterized by mental retardation, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections.
C165258	Cellosaurus Disease Terminology	C3512	Lung Adenocarcinoma	Lung Adenocarcinoma	Adenocarcinoma of Lung \|\| Adenocarcinoma of the Lung	A carcinoma that arises from the lung and is characterized by the presence of malignant glandular epithelial cells. There is a male predilection with a male to female ratio of 2:1. Usually lung adenocarcinoma is asymptomatic and is identified through screening studies or as an incidental radiologic finding. If clinical symptoms are present they include shortness of breath, cough, hemoptysis, chest pain, and fever. Tobacco smoke is a known risk factor.
C165258	Cellosaurus Disease Terminology	C9133	Lung Adenosquamous Carcinoma	Lung Adenosquamous Carcinoma	Adenosquamous Cell Lung Carcinoma \|\| Adenosquamous Lung Carcinoma	An aggressive carcinoma with a poor prognosis characterized by a presence of both malignant squamous cells and glandular cells.
C165258	Cellosaurus Disease Terminology	C4038	Lung Carcinoid Tumor	Lung Neuroendocrine Tumor	Carcinoid Tumor of Lung \|\| Carcinoid Tumor of the Lung \|\| Lung Carcinoid Tumor \|\| Lung NET \|\| Pulmonary Carcinoid Tumor	A well-differentiated neuroendocrine neoplasm that arises from the lung. It is characterized by the presence of uniform polygonal cells with small or moderate amount of cytoplasm and inconspicuous nucleoli. The cells are usually arranged in organoid and trabecular patterns. It is classified as grade 1 (G1-typical carcinoid tumor) or grade 2 (G2-atypical carcinoid tumor) based on the number of mitotic figures and the absence or presence of necrosis. Grade 2 neuroendocrine tumors have a worse prognosis.
C165258	Cellosaurus Disease Terminology	C4878	Lung Carcinoma	Lung Carcinoma	Cancer of Lung \|\| Cancer of the Lung \|\| Carcinoma of Lung \|\| Carcinoma of the Lung \|\| Lung Cancer	A carcinoma originating in the lung. Lung carcinomas usually arise from the epithelium that lines the bronchial tree (bronchogenic carcinomas), and are classified as small cell or non-small cell carcinomas. Non-small cell lung carcinomas are usually adenocarcinomas, squamous cell carcinomas, or large cell carcinomas. Metastatic carcinomas to the lung are also common, and can be difficult to distinguish from primary tumors.
C165258	Cellosaurus Disease Terminology	C45543	Lung Carcinosarcoma	Lung Carcinosarcoma	Pulmonary Carcinosarcoma	A morphologic variant of lung sarcomatoid carcinoma composed of a mixture of non-small cell lung carcinoma and a sarcomatous component.
C165258	Cellosaurus Disease Terminology	C45516	Lung Clear Cell Adenocarcinoma			A well differentiated morphologic variant of lung adenocarcinoma characterized by the predominance of clear cells.
C165258	Cellosaurus Disease Terminology	C4452	Lung Giant Cell Carcinoma	Lung Giant Cell Carcinoma	Giant Cell Carcinoma of Lung \|\| Giant Cell Carcinoma of the Lung	A morphologic variant of lung sarcomatoid carcinoma characterized by the presence of mononuclear and multinucleated pleomorphic neoplastic giant cells that lack cohesion.
C165258	Cellosaurus Disease Terminology	C4450	Lung Large Cell Carcinoma	Lung Large Cell Carcinoma	Anaplastic Lung Carcinoma \|\| Large Cell Carcinoma of Lung \|\| Large Cell Carcinoma of the Lung \|\| Large Cell Lung Carcinoma \|\| Large Cell Undifferentiated Lung Carcinoma \|\| Lung Large Cell Undifferentiated Carcinoma	An undifferentiated non-small cell lung carcinoma composed of large polygonal cells without evidence of glandular, squamous, or neuroendocrine differentiation.
C165258	Cellosaurus Disease Terminology	C5672	Lung Large Cell Neuroendocrine Carcinoma	Lung Large Cell Neuroendocrine Carcinoma	LCNEC of the Lung \|\| Large Cell Lung Carcinoma with Neuroendocrine Differentiation \|\| Large Cell Lung Neuroendocrine Carcinoma \|\| Large Cell Neuroendocrine Carcinoma of Lung \|\| Large Cell Neuroendocrine Carcinoma of the Lung \|\| Pulmonary Large Cell Neuroendocrine Carcinoma	A high grade carcinoma that arises from the lung and is characterized by the presence of large neuroendocrine cells. It usually has an aggressive clinical course.
C165258	Cellosaurus Disease Terminology	C38153	Lung Lymphangioleiomyomatosis	Lung Lymphangioleiomyomatosis	Lung Lymphangiomyomatosis	Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course.
C165258	Cellosaurus Disease Terminology	C128847	Lung Micropapillary Adenocarcinoma	Lung Micropapillary Adenocarcinoma		An aggressive variant of lung adenocarcinoma that exhibits a micropapillary architectural pattern. The prognosis is usually poor.
C165258	Cellosaurus Disease Terminology	C45544	Lung Mucoepidermoid Carcinoma	Lung Mucoepidermoid Carcinoma		A lung carcinoma characterized by the presence of malignant non-keratinizing squamoid cells, mucin-producing cells and intermediate type cells.
C165258	Cellosaurus Disease Terminology	C2926	Lung Non-Small Cell Carcinoma	Lung Non-Small Cell Carcinoma	NSCLC - Non-Small Cell Lung Cancer \|\| Non Small Cell Lung Cancer NOS \|\| Non-Small Cell Cancer of Lung \|\| Non-Small Cell Cancer of the Lung \|\| Non-Small Cell Carcinoma of Lung \|\| Non-Small Cell Carcinoma of the Lung \|\| Non-Small Cell Lung Cancer \|\| Non-Small Cell Lung Carcinoma	A group of at least three distinct histological types of lung cancer, including non-small cell squamous cell carcinoma, adenocarcinoma, and large cell carcinoma. Non-small cell lung carcinomas have a poor response to conventional chemotherapy.
C165258	Cellosaurus Disease Terminology	C5650	Lung Papillary Adenocarcinoma	Lung Papillary Adenocarcinoma	Papillary Adenocarcinoma of Lung \|\| Papillary Adenocarcinoma of the Lung \|\| Papillary Lung Adenocarcinoma	A morphologic variant of lung adenocarcinoma characterized by the presence of papillary structures.
C165258	Cellosaurus Disease Terminology	C45542	Lung Pleomorphic Carcinoma	Lung Pleomorphic Carcinoma		A morphologic variant of sarcomatoid carcinoma characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells.
C165258	Cellosaurus Disease Terminology	C45540	Lung Sarcomatoid Carcinoma	Lung Sarcomatoid Carcinoma		A rare, aggressive, poorly differentiated, non-small cell lung carcinoma characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. There is a male to female ratio of 4:1. Clinical symptoms include cough, hemoptysis, chest pain, progressive dyspnea and fever secondary to recurrent pneumonia. Cigarette smoking is a major risk factor.
C165258	Cellosaurus Disease Terminology	C4917	Lung Small Cell Carcinoma	Lung Small Cell Carcinoma	Lung Small Cell Neuroendocrine Carcinoma \|\| Small Cell Carcinoma of Lung \|\| Small Cell Carcinoma of the Lung \|\| Small Cell Lung Cancer \|\| Small Cell Lung Carcinoma \|\| Small Cell Neuroendocrine Carcinoma of Lung \|\| Small Cell Neuroendocrine Carcinoma of the Lung	A highly aggressive carcinoma with neuroendocrine differentiation arising from the lung. It is characterized by the presence of malignant small cells and necrosis. Metastatic disease is usually present at the time of diagnosis.
C165258	Cellosaurus Disease Terminology	C3493	Lung Squamous Cell Carcinoma	Lung Squamous Cell Carcinoma	Epidermoid Cell Carcinoma of Lung \|\| Epidermoid Cell Carcinoma of the Lung \|\| Epidermoid Cell Lung Carcinoma \|\| Squamous Cell Carcinoma of Lung \|\| Squamous Cell Carcinoma of the Lung \|\| Squamous Cell Lung Carcinoma	A carcinoma arising from squamous bronchial epithelial cells. It may be keratinizing or non-keratinizing. Keratinizing squamous cell carcinoma is characterized by the presence of keratinization, pearl formation, and/or intercellular bridges. Non-keratinizing squamous cell carcinoma is characterized by the absence of keratinization, pearl formation, and intercellular bridges. Cigarette smoking and arsenic exposure are strongly associated with squamous cell lung carcinoma.
C165258	Cellosaurus Disease Terminology	C45550	Lung Typical Carcinoid Tumor	Lung Neuroendocrine Tumor G1	Lung NET G1 \|\| Lung NET Grade 1 \|\| Lung NET, Grade 1 \|\| Lung Neuroendocrine Tumor Grade 1 \|\| Lung Neuroendocrine Tumor, Grade 1 \|\| Lung Typical Carcinoid Tumor	A neuroendocrine tumor of the lung characterized by the absence of necrosis and the presence of less than 2 mitoses per 2 mm2.
C165258	Cellosaurus Disease Terminology	C97087	Lymphangiectasia	Lymphangiectasia		Dilatation of the lymphatic vessels.
C165258	Cellosaurus Disease Terminology	C3725	Lymphangioleiomyomatosis	Lymphangioleiomyomatosis	Lymphangiomyomatosis	A multifocal neoplasm with perivascular epithelioid cell differentiation affecting almost exclusively females of child-bearing age. It is characterized by the presence of smooth muscle and epithelioid cells and by the proliferation of lymphatic vessels. Sites of involvement include the lungs, mediastinum, and the retroperitoneum. It usually presents with chylous pleural effusion or ascites.
C165258	Cellosaurus Disease Terminology	C3205	Lymphangiosarcoma	Lymphangiosarcoma	Lymphangioendothelial Sarcoma \|\| Malignant Lymphangioendothelioma	A malignant neoplasm arising from the endothelial cells of the lymphatic vessels.
C165258	Cellosaurus Disease Terminology	C128191	Lymphedema-Distichiasis Syndrome	Lymphedema-Distichiasis Syndrome		An autosomal dominant genetic disorder caused by mutation(s) in the FOXC2 gene, encoding forkhead box protein C2. The condition is characterized by lymphedema and distichiasis.
C165258	Cellosaurus Disease Terminology	C9360	Lymphoblastic Lymphoma	Lymphoblastic Lymphoma	Precursor Cell Lymphoblastic Lymphoma \|\| Precursor Lymphoblastic Lymphoma	A lymphoma composed of immature small to medium-sized precursor lymphoid cells (lymphoblasts). It includes the B- and T-cell lymphoblastic lymphoma.
C165258	Cellosaurus Disease Terminology	C7205	Lymphoepithelioid Variant Peripheral T-Cell Lymphoma	Lymphoepithelioid Variant Peripheral T-Cell Lymphoma, Not Otherwise Specified	Lennert Lymphoma \|\| Lennert Variant Peripheral T-Cell Lymphoma \|\| Lennert's Lymphoma \|\| Lennert's Variant Peripheral T-Cell Lymphoma \|\| Lymphoepithelioid Cell Variant Peripheral T-Cell Lymphoma \|\| Lymphoepithelioid Variant Peripheral T-Cell Lymphoma \|\| Lymphoepithelioid Variant Peripheral T-Cell Lymphoma, NOS	A variant of peripheral T-cell lymphoma, not otherwise specified. It is characterized by the presence of neoplastic small lymphocytes infiltrating the lymph nodes in a diffuse and less frequently interfollicular pattern. There is an associated proliferation of epithelioid histiocytes forming confluent clusters.
C165258	Cellosaurus Disease Terminology	C27779	Lymphohistiocytoid Mesothelioma	Lymphohistiocytoid Mesothelioma
C165258	Cellosaurus Disease Terminology	C7539	Lymphoid Leukemia	Lymphoid Leukemia	Lymphocytic Leukemia	A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias.
C165258	Cellosaurus Disease Terminology	C3208	Lymphoma	Lymphoma	Lymphoma (Hodgkin and Non-Hodgkin) \|\| Lymphoma (Hodgkin's and Non-Hodgkin's) \|\| Malignant Lymphoma	A malignant (clonal) proliferation of B- lymphocytes or T- lymphocytes which involves the lymph nodes, bone marrow and/or extranodal sites. This category includes Non-Hodgkin lymphomas and Hodgkin lymphomas.
C165258	Cellosaurus Disease Terminology	C8494	Lynch Syndrome	Lynch Syndrome	Familial Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) \|\| Hereditary Colorectal Endometrial Cancer Syndrome \|\| Hereditary Defective Mismatch Repair Syndrome \|\| Hereditary Non-Polyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2) \|\| Hereditary Nonpolyposis Colon Cancer (hMSH2, hMLH1, hPMS1, hPMS2)	An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.
C165258	Cellosaurus Disease Terminology	C121563	Lysinuric Protein Intolerance	Lysinuric Protein Intolerance		A disorder caused by the inability to digest and use lysine, arginine, and ornithine. Lysinuric protein intolerance is caused by mutations in the SLC7A7 gene. y+L amino acid transporter 1, the product of the SLC7A7 gene, is involved in transporting lysine, arginine, and ornithine between cells in the body.
C165258	Cellosaurus Disease Terminology	C182077	Macaca mulatta Hepatocellular Carcinoma	Macaca mulatta Hepatocellular Carcinoma	Rhesus Monkey Hepatocellular Carcinoma	Hepatocellular carcinoma occurring in a Macaca mulatta (rhesus monkey).
C165258	Cellosaurus Disease Terminology	C158788	Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss	Macrothrombocytopenia and Granulocyte Inclusions with or without Nephritis or Sensorineural Hearing Loss		An autosomal dominant disorder caused by mutation(s) of the MYH9 gene, encoding myosin-9. Clinical features include thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, and may be associated with other organ dysfunction. It comprises the Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, and Sebastian syndrome-- all of which were previously believed to be distinct entities.
C165258	Cellosaurus Disease Terminology	C34793	Macular Corneal Dystrophy	Macular Corneal Dystrophy		A stromal corneal dystrophy, with autosomal recessive inheritance, that is caused by lack of or abnormal keratan sulfate.
C165258	Cellosaurus Disease Terminology	C123330	Macular Degeneration	Macular Degeneration		Loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.
C165258	Cellosaurus Disease Terminology	C168999	Macular Dystrophy, Retinal, 1	Macular Dystrophy, Retinal, 1	North Carolina Macular Dystrophy \|\| Retinal Macular Dystrophy-1	An autosomal dominant form of macular dystrophy associated with mutation(s) in the DNase1 hypersensitivity site DHS6S1.
C165258	Cellosaurus Disease Terminology	C4304	Malignancy in Giant Cell Tumor of Bone	Malignancy in Giant Cell Tumor of Bone	Dedifferentiated Giant Cell Tumor \|\| Giant Cell Bone Sarcoma \|\| Giant Cell Sarcoma of Bone \|\| Giant Cell Sarcoma of the Bone \|\| Malignancy in Giant Cell Tumor of the Bone \|\| Malignant Giant Cell Tumor of Bone	A malignant tumor that arises from the bone. It is characterized by the presence of an area of high grade sarcoma in an otherwise typical giant cell tumor (primary malignancy in giant cell tumor), or the presence of sarcoma in which the pre-existing giant cell tumor may or may not be apparent (secondary malignancy in giant cell tumor).
C165258	Cellosaurus Disease Terminology	C156714	Malignant Abdominal Neoplasm	Malignant Abdominal Neoplasm		A primary or metastatic malignant neoplasm that affects the organs and structures of the abdomen.
C165258	Cellosaurus Disease Terminology	C4504	Malignant Breast Phyllodes Tumor	Malignant Breast Phyllodes Tumor	Malignant Breast Phyllodes Neoplasm \|\| Malignant Mammary Phyllodes Neoplasm \|\| Malignant Mammary Phyllodes Tumor \|\| Malignant Phyllodes Breast Neoplasm \|\| Malignant Phyllodes Neoplasm of Breast \|\| Malignant Phyllodes Neoplasm of the Breast \|\| Malignant Phyllodes Tumor of Breast \|\| Malignant Phyllodes Tumor of the Breast	A phyllodes tumor of the breast characterized by infiltrative margins and a sarcomatous stromal component. The sarcomatous stroma usually displays features of fibrosarcoma. Liposarcomatous, osteosarcomatous, or rhabdomyosarcomatous elements may also be present.
C165258	Cellosaurus Disease Terminology	C4822	Malignant Glioma	Malignant Glioma	High Grade Glioma \|\| High-Grade Glioma \|\| Malignant Glial Neoplasm \|\| Malignant Glial Tumor \|\| Malignant Neuroglial Neoplasm \|\| Malignant Neuroglial Tumor	A grade 3 or grade 4 glioma arising from the central nervous system. This category includes glioblastoma, anaplastic astrocytoma, anaplastic ependymoma, anaplastic oligodendroglioma, and anaplastic oligoastrocytoma.
C165258	Cellosaurus Disease Terminology	C84869	Malignant Hyperthermia Syndrome	Malignant Hyperthermia Syndrome	Malignant Hyperthermia	A rare disorder characterized by rapid rise of the body temperature, accompanied by rhabdomyolysis and, if untreated, by collapse and death. It occurs in susceptible individuals who receive certain drugs for general anesthesia, gas anesthetics, or succinylcholine. It may be inherited in an autosomal dominant pattern.
C165258	Cellosaurus Disease Terminology	C8025	Malignant Mixed Tumor of the Salivary Gland	Malignant Mixed Tumor of the Salivary Gland	Malignant Mixed Cell Type Neoplasm of Salivary Gland \|\| Malignant Mixed Cell Type Neoplasm of the Salivary Gland \|\| Malignant Mixed Neoplasm of Salivary Gland \|\| Malignant Mixed Neoplasm of the Salivary Gland \|\| Malignant Mixed Tumor of Salivary Gland \|\| Malignant Salivary Gland Mixed Cell Type Neoplasm \|\| Malignant Salivary Gland Mixed Cell Type Tumor \|\| Malignant Salivary Gland Mixed Neoplasm \|\| Malignant Salivary Gland Mixed Tumor \|\| Mixed Malignant Neoplasm of Salivary Gland \|\| Mixed Malignant Neoplasm of the Salivary Gland \|\| Mixed Malignant Salivary Gland Neoplasm \|\| Mixed Malignant Salivary Gland Tumor \|\| Mixed Malignant Tumor of Salivary Gland \|\| Mixed Malignant Tumor of the Salivary Gland	A malignant tumor arising from the salivary gland. It includes carcinoma ex pleomorphic adenoma, a malignant epithelial tumor arising from a pre-existing pleomorphic adenoma and carcinosarcoma which is characterized by a mixture of malignant epithelial and sarcomatous elements.
C165258	Cellosaurus Disease Terminology	C35427	Malignant Neoplasm of Multiple Primary Sites	Malignant Neoplasm of Multiple Primary Sites		A malignant neoplasm arising in multiple primary sites.
C165258	Cellosaurus Disease Terminology	C21678	Malignant Neoplasms of the Mouse Mammary Gland	Malignant Neoplasms of the Mouse Mammary Gland
C165258	Cellosaurus Disease Terminology	C4270	Malignant Ovarian Brenner Tumor	Malignant Ovarian Brenner Tumor	Malignant Brenner Tumor of Ovary \|\| Malignant Brenner Tumor of the Ovary	A malignant neoplasm that arises from the ovary. It is characterized by the presence of an invasive malignant urothelial-type cellular component and nests of benign urothelial-type cells in a fibrotic stroma. When the neoplasm is confined to the ovary, the prognosis is good.
C165258	Cellosaurus Disease Terminology	C39995	Malignant Ovarian Teratoma	Malignant Ovarian Teratoma	Grade 3 Ovarian Teratoma	A teratoma that arises from the ovary. It is composed exclusively of immature tissue elements.
C165258	Cellosaurus Disease Terminology	C6929	Malignant Ovarian Thecoma	Malignant Ovarian Thecoma	Malignant Ovarian Thecal Cell Neoplasm \|\| Malignant Ovarian Thecal Cell Tumor \|\| Malignant Thecal Cell Neoplasm of Ovary \|\| Malignant Thecal Cell Neoplasm of the Ovary \|\| Malignant Thecal Cell Tumor of Ovary \|\| Malignant Thecal Cell Tumor of the Ovary \|\| Malignant Thecoma of Ovary \|\| Malignant Thecoma of the Ovary	A thecoma of the ovary which may metastasize to another anatomic site. It is usually characterized by nuclear atypia and mitotic activity. Malignant thecomas are rare.
C165258	Cellosaurus Disease Terminology	C3798	Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Tumor	Malignant Peripheral Nerve Sheath Neoplasm	An uncommon, highly aggressive malignant tumor, arising from the peripheral nerves and affecting mostly adults in their third to sixth decades of life. It usually occurs in medium-sized and large nerves of the buttock, thigh, upper arm, or the paraspinal region. It may be associated with neurofibromatosis 1 (NF1).
C165258	Cellosaurus Disease Terminology	C64058	Malignant Sertoli Cell Tumor of the Rat Testis	Malignant Sertoli Cell Tumor of the Rat Testis
C165258	Cellosaurus Disease Terminology	C3539	Malignant Splenic Neoplasm	Malignant Splenic Neoplasm	Cancer of the Spleen \|\| Malignant Neoplasm of Spleen \|\| Malignant Neoplasm of the Spleen \|\| Malignant Splenic Tumor \|\| Malignant Tumor of Spleen \|\| Malignant Tumor of the Spleen \|\| Spleen Cancer \|\| Splenic Cancer	A malignant neoplasm affecting the spleen. Representative examples include leukemias, lymphomas, and sarcomas.
C165258	Cellosaurus Disease Terminology	C6535	Malignant Tenosynovial Giant Cell Tumor	Malignant Tenosynovial Giant Cell Tumor	Malignant Giant Cell Neoplasm of Tendon Sheath \|\| Malignant Giant Cell Neoplasm of the Tendon Sheath \|\| Malignant Giant Cell Tumor of Tendon Sheath \|\| Malignant Giant Cell Tumor of the Tendon Sheath \|\| Malignant Tendon Sheath Giant Cell Neoplasm \|\| Malignant Tendon Sheath Giant Cell Tumor	An uncommon malignant tumor arising from the tendon sheath. Morphologically, it is characterized by the presence of a cellular infiltrate reminiscent of a giant cell tumor with prominent malignant characteristics. Recurrent giant cell tumors with a sarcomatous dedifferentiation are included in this category as well.
C165258	Cellosaurus Disease Terminology	C21769	Malignant Tumors of the Mouse Pulmonary System	Malignant Tumors of the Mouse Pulmonary System
C165258	Cellosaurus Disease Terminology	C123417	Mandibuloacral Dysplasia with Type A Lipodystrophy	Mandibuloacral Dysplasia with Type A Lipodystrophy	MADA	A rare, autosomal recessive inherited disorder caused by mutations in the LMNA gene. It is characterized by growth retardation, craniofacial abnormalities with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and mottled or patchy skin pigmentation. The affected individuals have a marked acral loss of adipose tissue with normal or increased adipose tissue in the neck and trunk.
C165258	Cellosaurus Disease Terminology	C34805	Manic Bipolar Affective Disorder	Manic Bipolar Affective Disorder		The manic phase of bipolar disorder.
C165258	Cellosaurus Disease Terminology	C4337	Mantle Cell Lymphoma	Mantle Cell Lymphoma	Classical Mantle Cell Lymphoma	A non-Hodgkin lymphoma composed of small to medium sized B-lymphocytes (centrocytes). Most patients present with advanced stage disease with lymphadenopathy, hepatosplenomegaly, and bone marrow involvement. The gastrointestinal tract is the most commonly affected extranodal site by this type of non-Hodgkin lymphoma. The vast majority of cases express the t(11;14)(q13;q32) resulting in the rearrangement of the BCL-1 gene and the overexpression of cyclin D1 mRNA.
C165258	Cellosaurus Disease Terminology	C34806	Maple Syrup Urine Disease	Maple Syrup Urine Disease		An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death.
C165258	Cellosaurus Disease Terminology	C84884	Marek Disease	Marek Disease		A viral infection in chickens caused by the herpes virus. It is characterized by tissue lymphocytic infiltration, limb paralysis and development of tumors.
C165258	Cellosaurus Disease Terminology	C34807	Marfan Syndrome	Marfan Syndrome	Marfan's Syndrome	A genetic syndrome inherited as an autosomal dominant trait. It is caused by mutations in the FBN1 gene. It is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens.
C165258	Cellosaurus Disease Terminology	C134959	Marmoset Lymphoma	Marmoset Lymphoma		Lymphoma that occurs in a marmoset.
C165258	Cellosaurus Disease Terminology	C61264	Maroteaux-Lamy Syndrome	Maroteaux-Lamy Syndrome	Mucopolysaccharidosis Type VI \|\| Mucopolysaccharidosis VI	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylgalactosamine-4-sulfatase. It is characterized by organomegaly, short stature, joint stiffness, otitis media, and respiratory illnesses.
C165258	Cellosaurus Disease Terminology	C128115	Marshall Syndrome	Marshall Syndrome		An autosomal dominant condition caused by mutation(s) in the COL11A1 gene, encoding collagen alpha-1(XI) chain. The syndrome may be characterized by facial dysmorphism, cataracts, myopia, hearing loss, and short stature. Mutation(s) in the COL11A1 gene are causative in Stickler syndrome, but the phenotype of Marshall syndrome is more mild.
C165258	Cellosaurus Disease Terminology	C129930	MASA Syndrome	MASA Syndrome	CRASH Syndrome \|\| Gareis-Mason Syndrome \|\| Mental retardation, Aphasia, Shuffling Gait, and Adducted Thumbs \|\| Spastic Paraplegia, X-linked	An X-linked recessive condition caused by mutation(s) in the L1CAM gene, encoding neural cell adhesion molecule L1. It is characterized by mental retardation, aphasia, shuffling gait and adducted thumbs.
C165258	Cellosaurus Disease Terminology	C3169	Mast Cell Leukemia	Mast Cell Leukemia		A variant of systemic mastocytosis with involvement of the bone marrow (20% or more mast cells) and the peripheral blood (mast cells account for 10% or more of peripheral blood white cells). (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C5260	Mature Gastric Teratoma	Mature Gastric Teratoma	Mature Teratoma of Stomach \|\| Mature Teratoma of the Stomach	A benign teratoma that arises from the stomach. It contains mature tissue elements only.
C165258	Cellosaurus Disease Terminology	C114769	Maturity-Onset Diabetes of the Young	Maturity-Onset Diabetes of the Young	MODY \|\| Maturity Onset Diabetes of the Young	A rare autosomal dominant form of diabetes mellitus affecting young people with a positive family history. MODY is a form of monogenic diabetes, resulting from mutations in a single gene. The most common forms are HNF1alpha-MODY (MODY3) and GCK-MODY (MODY2), due to mutations in the HNF1A and GCK genes, respectively.
C165258	Cellosaurus Disease Terminology	C6064	Maxillary Sinus Squamous Cell Carcinoma	Maxillary Sinus Squamous Cell Carcinoma	Epidermoid Carcinoma of Maxillary Sinus \|\| Epidermoid Carcinoma of the Maxillary Sinus \|\| Maxillary Sinus Epidermoid Carcinoma \|\| Squamous Cell Carcinoma of Maxillary Sinus \|\| Squamous Cell Carcinoma of the Maxillary Sinus	A squamous cell carcinoma that arises from the mucosal epithelial surface of the maxillary sinus. Patients may present with nasal fullness, obstruction, and/or epistaxis.
C165258	Cellosaurus Disease Terminology	C124853	Mayer-Rokitansky-Kuster-Hauser Syndrome	Mayer-Rokitansky-Kuster-Hauser Syndrome		A rare syndrome of unknown cause that occurs in females. It is characterized by underdeveloped or absent vagina and uterus in an otherwise phenotypically normal female with a normal 46,XX karyotype. Other abnormalities include unilateral renal agenesis, skeletal abnormalities, hearing loss, and heart defects.
C165258	Cellosaurus Disease Terminology	C98978	Meckel-Gruber Syndrome	Meckel-Gruber Syndrome	Meckel Syndrome	A rare, lethal, autosomal recessive inherited syndrome characterized by pulmonary hypoplasia, central nervous system malformations, and hepatic malformations.
C165258	Cellosaurus Disease Terminology	C134571	Medaka Hepatoma	Medaka Hepatoma	Oryzias latipes Hepatoma	Hepatoma that occurs in Oryzias latipes.
C165258	Cellosaurus Disease Terminology	C134572	Medaka Melanoma	Medaka Melanoma	Oryzias latipes Melanoma	Melanoma that occurs in Oryzias latipes.
C165258	Cellosaurus Disease Terminology	C6619	Mediastinal Leiomyosarcoma	Mediastinal Leiomyosarcoma	Leiomyosarcoma of Mediastinum \|\| Leiomyosarcoma of the Mediastinum	An aggressive malignant smooth muscle neoplasm, arising from the mediastinum. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C6812	Mediastinal Seminoma	Mediastinal Seminoma	Seminoma of Mediastinum \|\| Seminoma of the Mediastinum	An extragonadal malignant germ cell tumor that arises from the mediastinum. It is characterized by the presence of uniform cells with clear or eosinophilic cytoplasm, round nucleus with one or more nucleoli, and distinct cellular borders. It usually arises from the anterior mediastinum. It may present with respiratory distress, chest pain, or superior vena cava syndrome or it may be asymptomatic, with the tumor detected on routine chest x-ray. The prognosis of mediastinal pure seminomas is favorable compared to the mediastinal non-seminomatous malignant germ cell tumors.
C165258	Cellosaurus Disease Terminology	C84538	Medium-Chain Acyl-CoA Dehydrogenase Deficiency	Medium-Chain Acyl-CoA Dehydrogenase Deficiency	Acyl-CoA Dehydrogenase, Medium-Chain Deficiency \|\| Medium-Chain Acyl-CoA Dehydrogenase Deficiency \|\| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	A genetic disorder characterized by deficiency of the enzyme medium-chain acyl-coenzyme A dehydrogenase that metabolizes medium-chain fatty acids. Signs and symptoms appear in infancy or childhood and may be triggered during fasting or illness. They include vomiting, hypoglycemia and lethargy.
C165258	Cellosaurus Disease Terminology	C3222	Medulloblastoma	Medulloblastoma		A malignant, invasive embryonal neoplasm arising from the cerebellum or posterior fossa. It occurs predominantly in children and has the tendency to metastasize via the cerebrospinal fluid pathways. Signs and symptoms include truncal ataxia, disturbed gait, lethargy, headache, and vomiting. There are four histologic variants: classic medulloblastoma, large cell/anaplastic medulloblastoma, desmoplastic/nodular medulloblastoma, and medulloblastoma with extensive nodularity.
C165258	Cellosaurus Disease Terminology	C129445	Medulloblastoma, Non-WNT/Non-SHH, Group 3	Medulloblastoma, Non-WNT/Non-SHH, Group 3		Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. MYC amplifications may be present. TP53 mutations are absent. Patients in this group are usually young children. The overall survival is the worst among all the molecular groups.
C165258	Cellosaurus Disease Terminology	C129446	Medulloblastoma, Non-WNT/Non-SHH, Group 4	Medulloblastoma, Non-WNT/Non-SHH, Group 4		Medulloblastoma not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway. MYC amplifications are absent. TP53 mutations are absent. Chromosome 17 abnormalities may be present.
C165258	Cellosaurus Disease Terminology	C129442	Medulloblastoma, SHH-Activated, TP53-Mutant	Medulloblastoma, SHH-Activated, TP53-Mutant		Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations.
C165258	Cellosaurus Disease Terminology	C129443	Medulloblastoma, SHH-Activated, TP53-Wildtype	Medulloblastoma, SHH-Activated, TP53-Wildtype		Medulloblastoma associated with activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations.
C165258	Cellosaurus Disease Terminology	C129440	Medulloblastoma, WNT-Activated	Medulloblastoma, WNT-Activated		A molecular subtype of medulloblastoma associated with activation of the WNT pathway. TP53 mutations may be present or absent. WNT pathway activation in medulloblastomas is associated with good outcome.
C165258	Cellosaurus Disease Terminology	C187989	Meester-Loeys Syndrome	Meester-Loeys Syndrome		An X-linked condition caused by mutation(s) in the BGN gene, encoding biglycan. It is characterized by cardiovascular defects and abnormal facies.
C165258	Cellosaurus Disease Terminology	C202114	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome-1	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome-1		An autosomal dominant condition caused by mutation(s) in the PIK3R2 gene, encoding phosphatidylinositol 3-kinase regulatory subunit beta. It is characterized by mild to severe intellectual disability, megencephaly, polymicrogyria, and postaxial polydactyly.
C165258	Cellosaurus Disease Terminology	C3224	Melanoma	Melanoma	Malignant Melanoma	A malignant, usually aggressive tumor composed of atypical, neoplastic melanocytes. Most often, melanomas arise in the skin (cutaneous melanomas) and include the following histologic subtypes: superficial spreading melanoma, nodular melanoma, acral lentiginous melanoma, and lentigo maligna melanoma. Cutaneous melanomas may arise from acquired or congenital melanocytic or dysplastic nevi. Melanomas may also arise in other anatomic sites including the gastrointestinal system, eye, urinary tract, and reproductive system. Melanomas frequently metastasize to lymph nodes, liver, lungs, and brain.
C165258	Cellosaurus Disease Terminology	C3717	Melanotic Neuroectodermal Tumor	Melanotic Neuroectodermal Tumor	Infantile Melanotic Neuroectodermal Neoplasm \|\| Melanotic Neuroectodermal Tumor of Infancy \|\| Pigmented Neuroectodermal Tumor	A rare neoplasm usually occurring in infants. It is characterized by the presence of a mixture of melanin-containing epithelial cells and smaller neuroblast-like cells. It may involve the skull and facial bones, or the epididymis. It usually has a benign clinical course.
C165258	Cellosaurus Disease Terminology	C84885	MELAS Syndrome	MELAS Syndrome		A rare progressive neurodegenerative disorder characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.
C165258	Cellosaurus Disease Terminology	C98983	Melnick-Fraser Syndrome	Melnick-Fraser Syndrome	Branchio-oto-renal Syndrome	An autosomal dominant inherited syndrome caused by mutations in the EYA1, SIX1, and SIX5 genes. It is characterized by the abnormal development of the second branchial arch, resulting in the formation of branchial cleft cysts and fistulae, hearing loss and ear malformations, and renal abnormalities.
C165258	Cellosaurus Disease Terminology	C185243	Meniere Disease	Meniere Disease	Idiopathic Endolymphatic Hydrops	A chronic inner ear disorder affecting balance and hearing. Symptoms may include vertigo, tinnitus, and hearing loss.
C165258	Cellosaurus Disease Terminology	C6891	Meningeal Melanomatosis	Meningeal Melanomatosis	Leptomeningeal Melanomatosis \|\| Melanomatosis	A rare condition in patients with leptomeningeal melanoma characterized by diffuse or multifocal proliferation of melanoma cells in the leptomeninges. It is often associated with invasion of the central nervous system.
C165258	Cellosaurus Disease Terminology	C3230	Meningioma	Meningioma		A generally slow growing tumor attached to the dura mater. It is composed of neoplastic meningothelial (arachnoidal) cells. It typically occurs in adults, often women and it has a wide range of histopathological appearances. Of the various subtypes, meningothelial, fibrous and transitional meningiomas are the most common. Most meningiomas are WHO grade 1 tumors, and some are WHO grade 2 or 3 tumors. Most subtypes share a common clinical behavior, although some subtypes are more likely to recur and follow a more aggressive clinical course. (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C4329	Meningothelial Meningioma	Meningothelial Meningioma	Meningotheliomatous Meningioma	A WHO grade I meningioma characterized by the presence of tumor cells that form lobules. The tumor cells are generally uniform. Whorls and psammoma bodies are usually not present.
C165258	Cellosaurus Disease Terminology	C75486	Menkes Disease	Menkes Disease	Kinky Hair Syndrome \|\| Menkes Kinky Hair Syndrome	An X-linked disorder caused by mutations in the ATP7A gene resulting in the abnormal transport and metabolism of copper. It affects primarily male infants. It is characterized by hypotonia, seizures, failure to thrive, and peculiar colorless or steel-colored brittle hair.
C165258	Cellosaurus Disease Terminology	C84392	Mental Retardation	Mental Retardation		A developmental disorder characterized by less than average intelligence and significant limitations in adaptive behavior with onset before the age of 18.
C165258	Cellosaurus Disease Terminology	C141424	Mental Retardation, Autosomal Dominant 1	Mental Retardation, Autosomal Dominant 1	MRD1	An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.
C165258	Cellosaurus Disease Terminology	C202606	Mental Retardation, Autosomal Dominant 18	Mental Retardation, Autosomal Dominant 18	GAND Syndrome	An autosomal dominant neurodevelopmental syndrome caused by mutation(s) in the GATAD2B gene, encoding transcriptional repressor p66-beta. It is characterized by global developmental delay and intellectual impairment.
C165258	Cellosaurus Disease Terminology	C160662	Mental Retardation, Autosomal Dominant 28	Mental Retardation, Autosomal Dominant 28	ADNP Syndrome \|\| Autosomal Dominant Mental Retardation 28 \|\| Helsmoortel-Van Der AA Syndrome
C165258	Cellosaurus Disease Terminology	C156309	Mental Retardation, Autosomal Dominant 39	Mental Retardation, Autosomal Dominant 39		An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C163754	Mental Retardation, Autosomal Dominant 40	Mental Retardation, Autosomal Dominant 40		An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well.
C165258	Cellosaurus Disease Terminology	C178414	Mental Retardation, Autosomal Dominant 5	Mental Retardation, Autosomal Dominant 5		An autosomal dominant condition caused by mutation(s) in the SYNGAP1 gene, encoding Ras/Rap GTPase-activating protein SynGAP. It is characterized by intellectual disability, with most patients developing generalized epilepsy, with some having autism spectrum disorder.
C165258	Cellosaurus Disease Terminology	C179708	Mental Retardation, Autosomal Dominant 7	Mental Retardation, Autosomal Dominant 7		An autosomal dominant condition caused by mutation(s) in the DYRK1A gene, encoding dual specificity tyrosine-phosphorylation-regulated kinase 1A. It is characterized by moderate-severe intellectual disability and typical facial dysmorphisms.
C165258	Cellosaurus Disease Terminology	C133742	Mental Retardation, Autosomal Dominant 9	Mental Retardation, Autosomal Dominant 9	NESCAV Syndrome	An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity.
C165258	Cellosaurus Disease Terminology	C153179	Mental Retardation, Autosomal Recessive 34	Mental Retardation, Autosomal Recessive 34	Mental Retardation, Autosomal Recessive 34, with Variant Lissencephaly	An autosomal recessive condition caused by mutation(s) in the CRADD gene, encoding death domain-containing protein CRADD. It is characterized by mild to moderate intellectual disability and lissencephaly with anterior-predominant pachygyria.
C165258	Cellosaurus Disease Terminology	C133729	Mental Retardation, X-linked 1	Mental Retardation, X-linked 1	Nonsyndromic X-Linked Cognitive Disability	An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.
C165258	Cellosaurus Disease Terminology	C129931	Mental Retardation, X-linked 102	Mental Retardation, X-linked 102		An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features.
C165258	Cellosaurus Disease Terminology	C179707	Mental Retardation, X-linked 21/34	Mental Retardation, X-linked 21/34		An X-linked recessive condition caused by mutation(s) in the IL1RAPL1 gene, encoding interleukin-1 receptor accessory protein-like 1. It is characterized by intellectual disability ranging from moderate mental retardation to high-functioning autism.
C165258	Cellosaurus Disease Terminology	C181001	Mental Retardation, X-Linked Syndromic, Christianson Type	Mental Retardation, X-Linked Syndromic, Christianson Type	Christianson Syndrome \|\| X-Linked Syndromic Cognitive Disability, Christianson Type	An X-linked dominant condition caused by mutation(s) in the SLC9A6 gene, encoding sodium/hydrogen exchanger 6. It is characterized by intellectual disability, delayed development, and difficulty standing or walking.
C165258	Cellosaurus Disease Terminology	C157122	Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type	Mental Retardation, X-Linked, Syndromic, Borjeson-Forssman-Lehmann Type	Borjeson-Forssman-Lehmann Syndrome \|\| Mental Retardation, Epilepsy, and Endocrine Disorders	An X-linked recessive condition caused by mutation(s) in the PHF6 gene, encoding PHD finger protein 6. It is characterized by severe intellectual disability, epilepsy, hypogonadism, hypometabolism, and obesity.
C165258	Cellosaurus Disease Terminology	C167216	Mental Retardation, X-Linked, Syndromic, Cabezas Type	Mental Retardation, X-Linked, Syndromic, Cabezas Type	Cabezas Syndrome \|\| Mental Retardation, X-Linked, Syndromic 15 \|\| Mental Retardation, X-Linked, with Short Stature \|\| Mental Retardation, X-Linked, with Short Stature, Hypogonadism, and Abnormal Gait	An X-linked recessive condition caused by mutations(s) in the CUL4B gene on chromosome Xq23, encoding a core component of the E3 ubiquitin ligase complex. It is characterized by short stature, hypogonadism, and abnormal gait.
C165258	Cellosaurus Disease Terminology	C9231	Merkel Cell Carcinoma	Merkel Cell Carcinoma		A rare aggressive neuroendocrine carcinoma that usually arises from the skin. Rarely, it arises from extracutaneous sites, including the oral cavity, salivary glands, breast, vulva, and vaginal wall. The tumor is composed of small round cells with scanty cytoplasm. Merkel cell polyomavirus is implicated in the majority of cases.
C165258	Cellosaurus Disease Terminology	C118783	Merosin-Deficient Congenital Muscular Dystrophy Type 1A	Merosin-Deficient Congenital Muscular Dystrophy Type 1A	MDC1A	An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the LAMA2 gene. It is characterized by severe hypotonia, muscle weakness, elevated levels of serum creatinine kinase, and white matter abnormalities.
C165258	Cellosaurus Disease Terminology	C61251	Metachromatic Leukodystrophy	Metachromatic Leukodystrophy		An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of the enzyme arylsulfatase A. There are three forms of this disease: late infantile, juvenile, and adult. In the late infantile form symptoms include muscle weakness and rigidity, gait disturbances, developmental delays, and seizures. In the juvenile form symptoms include gait disturbances, mental deterioration and seizures. The adult form is characterized by psychotic symptoms and dementia.
C165258	Cellosaurus Disease Terminology	C4124	Metastatic Adenocarcinoma	Metastatic Adenocarcinoma		An adenocarcinoma that has spread from its original site of growth to another anatomic site.
C165258	Cellosaurus Disease Terminology	C76328	Metastatic Breast Lobular Carcinoma	Metastatic Breast Lobular Carcinoma	Metastatic Lobular Breast Carcinoma	A lobular breast carcinoma that has spread from the original site of growth to another anatomic site.
C165258	Cellosaurus Disease Terminology	C158913	Metastatic Prostate Neuroendocrine Carcinoma	Metastatic Prostate Neuroendocrine Carcinoma		A neuroendocrine carcinoma that arises from the prostate gland and has spread to other anatomic sites.
C165258	Cellosaurus Disease Terminology	C175209	Metatropic Dysplasia	Metatropic Dysplasia		An autosomal dominant condition caused by mutation(s) in the TRPV4 gene, encoding transient receptor potential cation channel subfamily V member 4. It is characterized by a variable phenotype, which may include short limbs, kyphoscoliosis, and other skeletal abnormalities.
C165258	Cellosaurus Disease Terminology	C123435	Methionine Adenosyltransferase Deficiency	Methionine Adenosyltransferase Deficiency	Hypermethioninemia, Isolated Persistent \|\| Isolated Persistent Hypermethioninemia \|\| MAT Deficiency \|\| MAT I/III Deficiency	A metabolic disorder usually inherited in an autosomal recessive pattern and caused by mutations in the MAT1A gene. Affected individuals usually do not have clinical abnormalities.
C165258	Cellosaurus Disease Terminology	C98674	Methylcrotonyl-CoA Carboxylase Deficiency	Methylcrotonyl-CoA Carboxylase Deficiency	3-MCC Deficiency \|\| 3-Methylcrotonyl-CoA Carboxylase Deficiency	An autosomal recessive inherited disorder caused by mutations in the MCCC1 or MCCC2 genes. It is characterized by a deficiency in an enzyme that is involved in the metabolism of proteins that contain leucine. Signs and symptoms range from mild to severe and include feeding difficulties, vomiting, diarrhea, developmental delays, lethargy, seizures and coma.
C165258	Cellosaurus Disease Terminology	C98986	Methylmalonic Acidemia	Methylmalonic Acidemia	Methylmalonic Aciduria	A genetically heterogenous inherited disorder characterized by abnormalities in the metabolism of lipids and proteins. Signs and symptoms usually appear early in life and vary from mild to life threatening. They include vomiting, dehydration, hypotonia, developmental delays, hepatomegaly, lethargy, intellectual disabilities, and chronic kidney disease.
C165258	Cellosaurus Disease Terminology	C183527	Methylmalonic Acidemia, TcblR Type	Methylmalonic Acidemia, TcblR Type	Methylmalonic Aciduria due to Transcobalamin Receptor Defect \|\| Methylmalonic Aciduria, Transient, due to Transcobalamin Receptor Defect	A genetic condition characterized by methylmalonic aciduria, caused by mutation(s) in the CD320 gene, encoding CD320 antigen.
C165258	Cellosaurus Disease Terminology	C142174	Methylmalonic Aciduria and Homocystinuria, cblC Type	Methylmalonic Aciduria and Homocystinuria, cblC Type		An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMACHC gene, encoding methylmalonic aciduria and homocystinuria type C protein.
C165258	Cellosaurus Disease Terminology	C183524	Methylmalonic Aciduria and Homocystinuria, cblD Type	Methylmalonic Aciduria and Homocystinuria, cblD Type		An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the MMADHC gene, encoding cobalamin trafficking protein CblD.
C165258	Cellosaurus Disease Terminology	C183525	Methylmalonic Aciduria and Homocystinuria, cblF Type	Methylmalonic Aciduria and Homocystinuria, cblF Type		An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the LMBRD1 gene, encoding lysosomal cobalamin transport escort protein LMBD1.
C165258	Cellosaurus Disease Terminology	C183526	Methylmalonic Aciduria and Homocystinuria, cblJ Type	Methylmalonic Aciduria and Homocystinuria, cblJ Type		An autosomal recessive form of combined methylmalonic aciduria and homocystinuria, caused by mutation(s) in the ABCD4 gene, encoding lysosomal cobalamin transporter ABCD4.
C165258	Cellosaurus Disease Terminology	C148366	Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency	Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency	Methylmalonic Aciduria, Mut Type	An autosomal recessive form of methylmalonic aciduria caused by mutation(s) in the MUT gene, encoding methylmalonyl-CoA mutase, mitochondrial.
C165258	Cellosaurus Disease Terminology	C142171	Methylmalonic Aciduria, cblA Type	Methylmalonic Aciduria, cblA Type		An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAA gene, encoding MMAA protein.
C165258	Cellosaurus Disease Terminology	C142172	Methylmalonic Aciduria, cblB Type	Methylmalonic Aciduria, cblB Type		An autosomal recessive form of methylmalonic aciduria, caused by mutation(s) in the MMAB gene, encoding cob(I)yrinic acid a,c-diamide adenosyltransferase, mitochondrial.
C165258	Cellosaurus Disease Terminology	C84890	Mevalonate Kinase Deficiency	Mevalonate Kinase Deficiency	Mevalonic Aciduria	A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.
C165258	Cellosaurus Disease Terminology	C85874	Microcephaly	Microcephaly		A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex.
C165258	Cellosaurus Disease Terminology	C129306	Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1	Microcephaly and Chorioretinopathy, Autosomal Recessive, Type 1		An autosomal recessive disorder caused by mutation(s) in the TUBGCP6 gene, encoding gamma-tubulin complex component 6. It is characterized by microcephaly and chorioretinopathy.
C165258	Cellosaurus Disease Terminology	C192098	Microcephaly-Capillary Malformation Syndrome	Microcephaly-Capillary Malformation Syndrome		An autosomal recessive condition caused by mutation(s) in the STAMBP gene, encoding STAM-binding protein. It is characterized by severe microcephaly, diffuse cutaneous capillary malformations, refractory epilepsy, and developmental delay.
C165258	Cellosaurus Disease Terminology	C125485	Microcornea	Microcornea		A congenital abnormality characterized by an abnormally small cornea. The horizontal corneal diameter is less than 10mm or less than 9mm in newborns. It is associated with an increased risk of glaucoma.
C165258	Cellosaurus Disease Terminology	C6422	Midgut Neuroendocrine Tumor G1	Midgut Neuroendocrine Tumor G1		A neuroendocrine tumor grade 1 that arises from the jejunum, ileum, proximal colon, or appendix.
C165258	Cellosaurus Disease Terminology	C89715	Migraine	Migraine	Migraine Headache	A common, severe type of vascular headache often associated with increased sympathetic activity, resulting in nausea, vomiting, and light sensitivity.
C165258	Cellosaurus Disease Terminology	C159654	Mild Non-BH4-Deficient Hyperphenylalaninemia	Mild Non-BH4-Deficient Hyperphenylalaninemia		An autosomal recessive condition caused by mutation(s) in the DNAJC12 gene, encoding dnaJ homolog subfamily C member 12. It is characterized by increased serum phenylalanine concentrations resulting in variable neurologic defects, including movement defects and intellectual disability. BH4 metabolism is normal.
C165258	Cellosaurus Disease Terminology	C124852	Miller-Dieker Syndrome	Miller-Dieker Syndrome	Miller-Dieker Lissencephaly Syndrome	A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip.
C165258	Cellosaurus Disease Terminology	C150608	Minicore Myopathy with External Ophthalmoplegia	Minicore Myopathy with External Ophthalmoplegia		An autosomal recessive condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. It may be characterized clinically by neonatal hypotonia, delayed motor development, and generalized muscle weakness, and amyotrophy. Pathologically, the absence of mitochondria and focal disorganization of the sarcomere appear as "minicores" on ATPase staining as a result of focal defects in oxidative activity.
C165258	Cellosaurus Disease Terminology	C2923	Minimally Invasive Lung Adenocarcinoma	Minimally Invasive Lung Adenocarcinoma		A solitary adenocarcinoma arising from the lung and measuring 3 cm or less in size. It is characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. It is usually a non-mucinous adenocarcinoma, but rarely may be mucinous.
C165258	Cellosaurus Disease Terminology	C5976	Minor Salivary Gland Carcinoma ex Pleomorphic Adenoma	Minor Salivary Gland Carcinoma ex Pleomorphic Adenoma	Carcinoma ex Pleomorphic Adenoma of Minor Salivary Gland \|\| Carcinoma ex Pleomorphic Adenoma of the Minor Salivary Gland	A carcinoma that arises from a pleomorphic adenoma in the minor salivary glands. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.
C165258	Cellosaurus Disease Terminology	C147530	MIRAGE Syndrome	MIRAGE Syndrome	Myelodysplasia, Infection, Restriction of Growth, Adrenal Hypoplasia, Genital Phenotypes, and Enteropathy	An autosomal dominant condition caused by mutation(s) in the SAMD9 gene, encoding sterile alpha motif domain-containing protein 9A. It is a syndromic condition comprising myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital abnormalities, and enteropathy.
C165258	Cellosaurus Disease Terminology	C176895	Mitochondrial Complex IV Deficiency, Nuclear Type 1	Mitochondrial Complex IV Deficiency, Nuclear Type 1		An autosomal recessive condition caused by mutation(s) in the SURF1 gene, encoding surfeit locus protein 1. It is characterized by rapidly progressive neurodegeneration and encephalopathy with loss of motor and cognitive skills with onset between 5 and 18 months of age. It is one of several types of cytochrome c oxidase deficiencies caused by mutation(s) in nuclear encoded or mitochondrial encoded genes.
C165258	Cellosaurus Disease Terminology	C186788	Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1	Mitochondrial Complex V (ATP synthase) Deficiency, Mitochondrial Type 1	Mitochondrial Complex V Deficiency, Mitochondrial Type 1	A genetic condition caused by mutation(s) in the MTATP6 gene, encoding ATP synthase subunit a. The disorder is part of a group of congenital defects of complex V (ATP synthase).
C165258	Cellosaurus Disease Terminology	C131859	Mitochondrial Diabetes	Mitochondrial Diabetes		Diabetes mellitus caused by mutation(s) in mitochondrial DNA.
C165258	Cellosaurus Disease Terminology	C129977	Mitochondrial DNA Depletion Syndrome 12	Mitochondrial DNA Depletion Syndrome 12		An inherited condition caused by mutation(s) in the SLC25A4 gene, encoding ADP/ATP translocase 1. It is characterized by hypertrophic cardiomyopathy.
C165258	Cellosaurus Disease Terminology	C172095	Mitochondrial DNA Depletion Syndrome 13	Mitochondrial DNA Depletion Syndrome 13		An autosomal recessive condition caused by mutation(s) in the FBXL4 gene, encoding F-box and leucine rich repeat protein 4. It is characterized by early-onset lactic acidosis, growth failure, encephalopathy, hypotonia, and developmental delay.
C165258	Cellosaurus Disease Terminology	C185236	Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)	Mitochondrial DNA Depletion Syndrome 2 (Myopathic Type)		An autosomal recessive subtype of mitochondrial depletion syndrome caused by mutation(s) in the TK2 gene, encoding thymidine kinase 2, mitochondrial. It is characterized by muscle weakness associated with mtDNA depletion in skeletal muscle.
C165258	Cellosaurus Disease Terminology	C183531	Mitochondrial DNA Depletion Syndrome-9	Mitochondrial DNA Depletion Syndrome-9		A autosomal recessive condition caused by mutation(s) in the SUCLG1 gene, encoding succinate--CoA ligase [ADP/GDP-forming] subunit alpha, mitochondrial. It is characterized by infantile onset of hypotonia, lactic acidosis, developmental delay, cognitive impairment, and excretion of methylmalonic acid.
C165258	Cellosaurus Disease Terminology	C101328	Mitochondrial Myopathy	Mitochondrial Myopathy		Myopathy caused by mitochondrial abnormalities.
C165258	Cellosaurus Disease Terminology	C202117	Mitochondrial Pyruvate Carrier Deficiency	Mitochondrial Pyruvate Carrier Deficiency		An autosomal recessive condition caused by mutation(s) in the MPC1 gene, encoding mitochondrial pyruvate carrier 1. it is characterized by lactic acidosis with a normal lactate/pyruvate ratio, and global developmentally.
C165258	Cellosaurus Disease Terminology	C174218	Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency	Mitochondrial Short-Chain Enoyl-CoA Hydratase-1 Deficiency		An autosomal recessive condition caused by mutation(s) in the ECHS1 gene, encoding enoyl-CoA hydratase, mitochondrial. The condition represents a clinical spectrum in which there are multiple phenotypes.
C165258	Cellosaurus Disease Terminology	C98991	Mitochondrial Trifunctional Protein Deficiency	Mitochondrial Trifunctional Protein Deficiency		A rare, autosomal recessive inherited disorder caused by mutations in the HADHA and HADHB genes. It is characterized by the deficiency of an enzyme involved in the fatty acid oxidation process. Signs and symptoms may appear early or later in life and may be triggered by periods of fasting or illnesses. They include feeding difficulties, lethargy, hypoglycemia, hypotonia, liver abnormalities, heart abnormalities, peripheral neuropathy, coma, and sudden death.
C165258	Cellosaurus Disease Terminology	C148321	Mitochondrially Inherited Nonsyndromic Sensorineural Deafness	Mitochondrially Inherited Nonsyndromic Sensorineural Deafness		A maternally inherited form of nonsyndromic sensorineural deafness that is caused by a mutation in any of several mitochondrial genes.
C165258	Cellosaurus Disease Terminology	C84892	Mixed Connective Tissue Disease	Mixed Connective Tissue Disease		An autoimmune overlap syndrome characterized by the presence of symptoms of systemic lupus erythematosus, systemic scleroderma, and polymyositis.
C165258	Cellosaurus Disease Terminology	C3756	Mixed Embryonal Carcinoma and Teratoma	Mixed Embryonal Carcinoma and Teratoma	Teratocarcinoma	A germ cell tumor characterized by the presence of an embryonal carcinoma component and a teratoma component.
C165258	Cellosaurus Disease Terminology	C82179	Mixed Phenotype Acute Leukemia	Mixed Phenotype Acute Leukemia		An acute leukemia of ambiguous lineage. It is characterized by the presence of either separate populations of blasts of more than one lineage, or one population of blasts co-expressing markers of more than one lineage.
C165258	Cellosaurus Disease Terminology	C82192	Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1	Mixed Phenotype Acute Leukemia with BCR-ABL1 Fusion	MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 \|\| MPAL with t(9;22)(q34.1;q11.2); BCR::ABL1 \|\| Mixed Phenotype Acute Leukemia with BCR::ABL1 Fusion \|\| Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1 \|\| Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR::ABL1 \|\| Mixed Phenotype Acute Leukemia with t(9;22)(q34;q11.2); BCR-ABL1 \|\| Mixed-Phenotype Acute Leukemia with BCR-ABL1 Fusion \|\| Mixed-Phenotype Acute Leukemia with BCR::ABL1 Fusion	A rare mixed phenotype acute leukemia in which the blasts carry the chromosomal translocation t(9;22)(q34.1;q11.2) that results in BCR-ABL1 gene fusion. The prognosis is usually unfavorable.
C165258	Cellosaurus Disease Terminology	C118846	Miyoshi Muscular Dystrophy 1	Miyoshi Muscular Dystrophy 1	MMD1	A rare, autosomal recessive inherited skeletal muscle disorder caused by mutation in the dysferlin gene. It affects young adults and is characterized by weakness and atrophy in the muscles of the upper and lower limbs.
C165258	Cellosaurus Disease Terminology	C84893	Mobius Syndrome	Mobius Syndrome	Moebius Syndrome \|\| M�bius Syndrome	A very rare congenital syndrome affecting the sixth and seventh cranial nerves. It is characterized by facial paralysis leading to lack of facial expression and the inability to move the eyes laterally.
C165258	Cellosaurus Disease Terminology	C129076	Molybdenum Cofactor Deficiency	Molybdenum Cofactor Deficiency		An autosomal recessive condition that is caused by mutation(s) in the MOCS1 gene, encoding molybdenum cofactor biosynthesis protein 1. it is characterized by poor feeding, encephalopathy, seizures and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C3996	Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammopathy of Undetermined Significance (MGUS)	A condition in which an abnormal amount of a single immunoglobulin is present in the serum. This category includes IgM monoclonal gammopathy of undetermined significance and non-IgM monoclonal gammopathy of undetermined significance. Up to 25% of cases of monoclonal gammopathy of undetermined significance progress to a B-cell malignancy or myeloma.
C165258	Cellosaurus Disease Terminology	C129739	Monogenic Diabetes	Monogenic Diabetes		Diabetes mellitus caused by mutation(s) in a single gene, usually presenting in childhood or early adulthood.
C165258	Cellosaurus Disease Terminology	C6534	Monophasic Synovial Sarcoma	Monophasic Synovial Sarcoma	Monophasic Sarcoma of Synovium \|\| Monophasic Sarcoma of the Synovium	A synovial sarcoma characterized by the presence of an epithelial or a spindle cell component only.
C165258	Cellosaurus Disease Terminology	C34858	Morbid Obesity	Morbid Obesity		An excess of body weight, normally defined as an individual with a body mass index greater than 35 or a body weight greater than one hundred percent of ideal body weight.
C165258	Cellosaurus Disease Terminology	C61263	Morquio Syndrome	Morquio Syndrome	Mucopolysaccharidosis IV \|\| Mucopolysaccharidosis Type IV	A rare autosomal recessive lysosomal storage disease characterized by abnormal skeletal developments, dwarfism, heart disorders, and central nervous system deficits.
C165258	Cellosaurus Disease Terminology	C128192	Mosaic Variegated Aneuploidy Syndrome 1	Mosaic Variegated Aneuploidy Syndrome 1		An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer.
C165258	Cellosaurus Disease Terminology	C168989	Mosaic Variegated Aneuploidy Syndrome 2	Mosaic Variegated Aneuploidy Syndrome 2		An autosomal recessive condition caused by mutation(s) in the CEP57 gene, encoding centrosomal protein of 57 kDa. It is characterized by variable phenotypes, associated with mosaic aneuploidies.
C165258	Cellosaurus Disease Terminology	C22992	Mouse Adrenal Cortical Carcinoma	Mouse Adrenal Cortical Carcinoma	Mouse Adrenal Cortex Carcinoma
C165258	Cellosaurus Disease Terminology	C134960	Mouse Adrenal Gland Pheochromocytoma	Mouse Adrenal Gland Pheochromocytoma		A pheochromocytoma that occurs in the adrenal gland of a mouse.
C165258	Cellosaurus Disease Terminology	C24016	Mouse Angiosarcoma	Mouse Angiosarcoma
C165258	Cellosaurus Disease Terminology	C21932	Mouse Astrocytic Tumours	Mouse Astrocytic Tumours
C165258	Cellosaurus Disease Terminology	C134570	Mouse Basal Cell Carcinoma	Mouse Basal Cell Carcinoma		Basal Cell carcinoma that occurs in a mouse.
C165258	Cellosaurus Disease Terminology	C25823	Mouse Bladder Transitional Cell Carcinoma	Mouse Bladder Transitional Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C191764	Mouse Cerebellar Neoplasm	Mouse Cerebellar Neoplasm		A benign or malignant tumor occurring in the cerebellum of a mouse.
C165258	Cellosaurus Disease Terminology	C24068	Mouse Cervical Carcinoma	Mouse Cervical Carcinoma
C165258	Cellosaurus Disease Terminology	C24077	Mouse Cervical Squamous Cell Carcinoma	Mouse Cervical Squamous Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C24018	Mouse Chondrosarcoma	Mouse Chondrosarcoma
C165258	Cellosaurus Disease Terminology	C120044	Mouse Colon Adenocarcinoma	Mouse Colon Adenocarcinoma	Adenocarcinoma of Mouse Colon \|\| Mouse Model of Colon Adenocarcinoma	An adenocarcinoma arising from the colon of a mouse. It can be used as a mouse model of the human disease.
C165258	Cellosaurus Disease Terminology	C21951	Mouse Ependymoma	Mouse Ependymoma
C165258	Cellosaurus Disease Terminology	C21895	Mouse Erythroid Leukemia	Mouse Erythroid Leukemia
C165258	Cellosaurus Disease Terminology	C191763	Mouse Esophageal Squamous Cell Carcinoma	Mouse Esophageal Squamous Cell Carcinoma		Squamous cell carcinoma occurring in the esophagus of a mouse.
C165258	Cellosaurus Disease Terminology	C24017	Mouse Fibrosarcoma	Mouse Fibrosarcoma
C165258	Cellosaurus Disease Terminology	C24227	Mouse Gastric Adenocarcinoma	Mouse Gastric Adenocarcinoma
C165258	Cellosaurus Disease Terminology	C24225	Mouse Gastric Carcinoma	Mouse Gastric Carcinoma
C165258	Cellosaurus Disease Terminology	C24219	Mouse Gastric Neuroendocrine Neoplasm	Mouse Gastric Neuroendocrine Neoplasm		Gastric neuroendocrine neoplasm occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C24234	Mouse Gastric Squamous Cell Carcinoma	Mouse Gastric Squamous Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C21962	Mouse Glial Tumours of Uncertain Origin	Mouse Glial Tumours of Uncertain Origin
C165258	Cellosaurus Disease Terminology	C21938	Mouse Glioblastoma	Mouse Glioblastoma
C165258	Cellosaurus Disease Terminology	C24000	Mouse Granulosa Cell Tumor	Mouse Granulosa Cell Tumor
C165258	Cellosaurus Disease Terminology	C21634	Mouse Hibernoma	Mouse Hibernoma		Hibernoma occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C134996	Mouse Histiocytic and Dendritic Cell Neoplasm	Mouse Histiocytic and Dendritic Cell Neoplasm		A tumor arising from histiocytes and dendritic cells and occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C21886	Mouse Histiocytic Sarcoma	Mouse Histiocytic Sarcoma
C165258	Cellosaurus Disease Terminology	C34053	Mouse Insulinoma	Mouse Insulinoma
C165258	Cellosaurus Disease Terminology	C34051	Mouse Islet Cell Adenoma	Mouse Islet Cell Adenoma
C165258	Cellosaurus Disease Terminology	C34050	Mouse Islet Cell Neoplasm	Mouse Islet Cell Neoplasm
C165258	Cellosaurus Disease Terminology	C124802	Mouse Kidney Carcinoma	Mouse Kidney Carcinoma		A carcinoma arising from the epithelium of the renal parenchyma or the renal pelvis of a mouse.
C165258	Cellosaurus Disease Terminology	C21604	Mouse Leukemia	Mouse Leukemia
C165258	Cellosaurus Disease Terminology	C134947	Mouse Leydig Cell Tumor	Mouse Leydig Cell Tumor		A Leydig cell tumor that occurs in a mouse.
C165258	Cellosaurus Disease Terminology	C188988	Mouse Lung Small Cell Carcinoma	Mouse Lung Small Cell Carcinoma	Murine Lung Small Cell Carcinoma	A small cell lung carcinoma occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C21602	Mouse Lymphoma	Mouse Lymphoma
C165258	Cellosaurus Disease Terminology	C30037	Mouse Malignant Ovarian Neoplasm	Mouse Malignant Ovarian Neoplasm
C165258	Cellosaurus Disease Terminology	C187985	Mouse Mantle Cell Lymphoma	Mouse Mantle Cell Lymphoma		Mantle cell lymphoma occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C21632	Mouse Mast Cell Neoplasm	Mouse Mast Cell Neoplasm
C165258	Cellosaurus Disease Terminology	C24170	Mouse Medullary Thyroid Carcinoma	Mouse Medullary Thyroid Carcinoma	Mouse C Cell Carcinoma \|\| Mouse Medullary Carcinoma of the Thyroid Gland \|\| Mouse Thyroid Gland Parafollicular Cell Carcinoma	Thyroid gland carcinoma that arises from parafollicular cells (C cells) and occurs in a mouse.
C165258	Cellosaurus Disease Terminology	C21790	Mouse Melanoma	Mouse Melanoma
C165258	Cellosaurus Disease Terminology	C21619	Mouse Mesothelioma	Mouse Mesothelioma
C165258	Cellosaurus Disease Terminology	C21894	Mouse Monocytic Leukemia	Mouse Monocytic Leukemia
C165258	Cellosaurus Disease Terminology	C125417	Mouse Multiple Myeloma	Mouse Multiple Myeloma	Mouse Plasma Cell Myeloma	Plasma cell myeloma occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C21889	Mouse Myeloid Leukemia	Mouse Myeloid Leukemia
C165258	Cellosaurus Disease Terminology	C23988	Mouse Neoplasms	Mouse Neoplasms
C165258	Cellosaurus Disease Terminology	C24006	Mouse Neural Cell Neoplasm	Mouse Neural Cell Neoplasm
C165258	Cellosaurus Disease Terminology	C21993	Mouse Neuroblastoma	Mouse Neuroblastoma
C165258	Cellosaurus Disease Terminology	C21600	Mouse Neuroglia Neoplasm	Mouse Neuroglia Neoplasm
C165258	Cellosaurus Disease Terminology	C24021	Mouse Osteosarcoma	Mouse Osteosarcoma
C165258	Cellosaurus Disease Terminology	C30056	Mouse Ovarian Histiocytic Sarcoma	Mouse Ovarian Histiocytic Sarcoma
C165258	Cellosaurus Disease Terminology	C33903	Mouse Ovarian Serous Adenocarcinoma	Mouse Ovarian Serous Adenocarcinoma
C165258	Cellosaurus Disease Terminology	C34036	Mouse Pancreatic Acinar Neoplasm	Mouse Pancreatic Acinar Neoplasm
C165258	Cellosaurus Disease Terminology	C34041	Mouse Pancreatic Ductal Adenocarcinoma	Mouse Pancreatic Ductal Adenocarcinoma
C165258	Cellosaurus Disease Terminology	C34045	Mouse Pancreatic Intraepithelial Neoplasia-1	Mouse Pancreatic Intraepithelial Neoplasia-1
C165258	Cellosaurus Disease Terminology	C34035	Mouse Pancreatic Neoplasm	Mouse Pancreatic Neoplasm
C165258	Cellosaurus Disease Terminology	C24015	Mouse Papilloma	Mouse Papilloma
C165258	Cellosaurus Disease Terminology	C24037	Mouse Pituitary Gland Neoplasms	Mouse Pituitary Gland Neoplasms
C165258	Cellosaurus Disease Terminology	C21631	Mouse Plasmacytoma	Mouse Plasmacytoma
C165258	Cellosaurus Disease Terminology	C21925	Mouse Precursor T Cell Lymphoblastic Lymphoma/Leukemia	Mouse Precursor T Cell Lymphoblastic Lymphoma/Leukemia
C165258	Cellosaurus Disease Terminology	C134779	Mouse Rectum Carcinoma	Mouse Rectum Carcinoma		Carcinoma that occurs in the rectum of a mouse.
C165258	Cellosaurus Disease Terminology	C134780	Mouse Reticulum Cell Sarcoma	Mouse Reticulum Cell Sarcoma		Reticulum cell sarcoma that occurs in a mouse.
C165258	Cellosaurus Disease Terminology	C24022	Mouse Rhabdomyosarcoma	Mouse Rhabdomyosarcoma
C165258	Cellosaurus Disease Terminology	C21603	Mouse Sarcoma	Mouse Sarcoma
C165258	Cellosaurus Disease Terminology	C21997	Mouse Schwannoma	Mouse Schwannoma
C165258	Cellosaurus Disease Terminology	C21613	Mouse Spindle Cell Neoplasm	Mouse Spindle Cell Neoplasm
C165258	Cellosaurus Disease Terminology	C21609	Mouse Squamous Cell Carcinoma	Mouse Squamous Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C134961	Mouse Submandibular Gland Neoplasm	Mouse Submandibular Gland Neoplasm		A tumor arising in the submandibular gland of a mouse.
C165258	Cellosaurus Disease Terminology	C129859	Mouse Teratocarcinoma	Mouse Teratocarcinoma		A malignant germ-cell neoplasm arising from pluripotent cells, including components from the epithelial germ-cell layer, which occurs in a mouse.
C165258	Cellosaurus Disease Terminology	C128123	Mouse Testicular Teratoma	Mouse Testicular Teratoma		A non-seminomatous germ cell tumor arising from the testis of a mouse, characterized by the presence of various tissues corresponding to the different germinal layers (endoderm, mesoderm, and ectoderm).
C165258	Cellosaurus Disease Terminology	C134997	Mouse Thymic Lymphoma	Mouse Thymic Lymphoma		A lymphoma that arises in the thymus of a mouse.
C165258	Cellosaurus Disease Terminology	C198577	Mouse Thymoma	Mouse Thymoma		Thymoma occuring in a mouse.
C165258	Cellosaurus Disease Terminology	C125660	Mouse Trisomy 16	Mouse Trisomy 16		A mouse chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells. Mice that are trisomic for chromosome 16 offer a genetic model for studies relevant to Down syndrome.
C165258	Cellosaurus Disease Terminology	C25806	Mouse Urinary Tract Neoplasm	Mouse Urinary Tract Neoplasm
C165258	Cellosaurus Disease Terminology	C74999	Mowat-Wilson Syndrome	Mowat-Wilson Syndrome		A rare autosomal dominant syndrome caused by mutations in the ZEB2 gene. It is characterized by mental retardation, and a distinctive facial appearance (wide set eyes, uplifted earlobes, broad nasal bridge, prominent chin, and a smiling expression). The majority of patients have Hirschsprung disease (colonic enlargement and constipation due to intestinal blockage).
C165258	Cellosaurus Disease Terminology	C84895	Moyamoya Disease	Moyamoya Disease		A rare inherited vascular disorder characterized by constriction of arteries at the base of the brain, resulting in the formation of collateral circulation in order to compensate for the constriction. The name "moyamoya" in Japanese means "puff of smoke" and derives from the characteristic radiographic appearance of the collateral vessels.
C165258	Cellosaurus Disease Terminology	C183312	Moyamoya Disease 2	Moyamoya Disease 2		An autosomally inherited subtype of moyamoya disease often presenting in childhood caused by mutation(s) in the RNF213 gene, encoding E3 ubiquitin-protein ligase RNF213.
C165258	Cellosaurus Disease Terminology	C129978	Mucolipidosis Type III Gamma	Mucolipidosis Type III Gamma	Mucolipidosis III Gamma	An autosomal recessive condition caused by mutation(s) in the GNPTAG gene, encoding N-acetylglucosamine-1-phosphotransferase subunit gamma. It is characterized by a slowing of the growth rate in childhood, joint stiffness, mild cognitive impairment, and cardiorespiratory insufficiency.
C165258	Cellosaurus Disease Terminology	C125595	Mucolipidosis Type IIIA	Mucolipidosis Type IIIA		A lysosomal storage disease characterized by multiple bone formation abnormalities, progressive joint stiffness, developmental abnormalities, hearing loss, hepatosplenomegaly, increased acne, enlarged tongue, and cornea clouding due to accumulation of lipid substances.
C165258	Cellosaurus Disease Terminology	C84896	Mucolipidosis Type IV	Mucolipidosis Type IV		An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and ophthalmologic abnormalities.
C165258	Cellosaurus Disease Terminology	C61259	Mucopolysaccharidosis	Mucopolysaccharidosis		A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, intellectual disabilities, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
C165258	Cellosaurus Disease Terminology	C84897	Mucopolysaccharidosis Type IIIA	Mucopolysaccharidosis Type IIIA	Sanfilippo A	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
C165258	Cellosaurus Disease Terminology	C84898	Mucopolysaccharidosis Type IIIB	Mucopolysaccharidosis Type IIIB	Sanfilippo B	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
C165258	Cellosaurus Disease Terminology	C84899	Mucopolysaccharidosis Type IIIC	Mucopolysaccharidosis Type IIIC	Sanfilippo C	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
C165258	Cellosaurus Disease Terminology	C84900	Mucopolysaccharidosis Type IIID	Mucopolysaccharidosis Type IIID	Sanfilippo D	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. It is characterized by behavioral changes, sleep disturbances and mental developmental delays.
C165258	Cellosaurus Disease Terminology	C84901	Mucopolysaccharidosis Type IVA	Mucopolysaccharidosis Type IVA		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme galactosamine-6-sulfatase. It is characterized by skeletal and central nervous system deficits.
C165258	Cellosaurus Disease Terminology	C84902	Mucopolysaccharidosis Type IVB	Mucopolysaccharidosis Type IVB		A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta galactosidase. It is characterized by skeletal dysplasia and short stature.
C165258	Cellosaurus Disease Terminology	C129073	Mucopolysaccharidosis Type IX	Mucopolysaccharidosis Type IX	Hyaluronidase Deficiency	An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency.
C165258	Cellosaurus Disease Terminology	C114828	Mucosal Melanoma	Mucosal Melanoma		A melanoma that arises from a mucosal site.
C165258	Cellosaurus Disease Terminology	C84904	Muenke Syndrome	Muenke Syndrome	FGFR3-Related Craniosynostosis	A rare autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by premature fusion of cranial bones, resulting in head shape abnormalities, flattened cheekbones, and wide-set eyes.
C165258	Cellosaurus Disease Terminology	C84905	Muir-Torre Syndrome	Muir-Torre Syndrome		A usually autosomal dominant inherited neoplastic syndrome caused by mutations in the hMSH-2 and hMLH-1 genes. It is characterized by the presence of sebaceous skin tumors (adenoma or carcinoma), and internal organ malignant tumors, usually of the gastrointestinal or genitourinary tract.
C165258	Cellosaurus Disease Terminology	C84906	Mulibrey Nanism	Mulibrey Nanism	Perheentupa Syndrome	An autosomal recessive inherited disorder caused by mutations in the TRIM37 gene. It is characterized by marked growth retardation and abnormalities in multiple organs including heart, liver, muscle, eyes, and brain.
C165258	Cellosaurus Disease Terminology	C178416	Multicentric Carpotarsal Osteolysis Syndrome	Multicentric Carpotarsal Osteolysis Syndrome		An autosomal dominant condition caused by mutation(s) in the MAFB gene, encoding transcription factor MafB. It is characterized by progressive destruction of the carpal and tarsal bones, usually with onset in early childhood.
C165258	Cellosaurus Disease Terminology	C6470	Multifocal Osteosarcoma	Multifocal Osteosarcoma	Multicentric Osteosarcoma \|\| Multifocal Osteogenic Sarcoma	A primary bone osteosarcoma affecting multiple bone sites.
C165258	Cellosaurus Disease Terminology	C4524	Multilocular Cystic Renal Neoplasm of Low Malignant Potential	Multilocular Cystic Renal Neoplasm of Low Malignant Potential		A rare kidney neoplasm of low malignant potential. It is a well-circumscribed multicystic mass without solid areas. The inner lining of the cystic structures is composed of clear cells. It usually presents as a unilateral solitary mass.
C165258	Cellosaurus Disease Terminology	C206523	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly	Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia And Hydranencephaly		A lethal autosomal recessive condition caused by mutation(s) in the CEP55 gene, encoding centrosomal protein of 55 kDa. It is characterized by renal dysplasia, anhydramnios, hydrancephaly, cerebellar hypoplasia, and multinucleated neurons in remaining brain tissue.
C165258	Cellosaurus Disease Terminology	C186307	Multiorgan Venous and Lymphatic Defect Syndrome	Multiorgan Venous and Lymphatic Defect Syndrome		A genetic condition, caused by mutation(s) in the DDX24 gene, encoding ATP-dependent RNA helicase DDX24. It is associated with vascular stenosis of portal and hepatic veins and/or lymphatic vessels.
C165258	Cellosaurus Disease Terminology	C84907	Multiple Acyl-CoA Dehydrogenase Deficiency	Multiple Acyl-CoA Dehydrogenase Deficiency	Glutaric Acidemia Type 2 \|\| Multiple Acyl Coenzyme A Dehydrogenase Deficiency	A rare autosomal recessive inherited metabolic disorder caused by mutations in the ETFA, ETFB, or ETFDH genes. It is characterized by deficiency of either electron transfer flavoprotein (ETF) or electron transfer flavoprotein dehydrogenase (ETFDH). Clinical presentations include congenital abnormalities (brain and facial malformations), hypotonia, dilated cardiomyopathy, hepatomegaly, metabolic acidosis, hypoglycemia, and behavioral changes.
C165258	Cellosaurus Disease Terminology	C176896	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Glycosylphosphatidylinositol Biosynthesis Defect 3	An autosomal recessive condition caused by mutation(s) in the PIGN gene, encoding GPI ethanolamine phosphate transferase 1. Though the phenotype is variable, it may be characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems.
C165258	Cellosaurus Disease Terminology	C3225	Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia Type 1	MEA Type 1 \|\| MEA Type I \|\| MEN Type 1 \|\| MEN Type I \|\| Multiple Endocrine Adenomatosis Type 1 \|\| Multiple Endocrine Adenomatosis Type I \|\| Multiple Endocrine Adenomatosis, Type I \|\| Multiple Endocrine Neoplasia Type I \|\| Multiple Endocrine Neoplasia, Type I \|\| Wermer Syndrome \|\| Wermer's Syndrome	Multiple endocrine neoplasia caused by inactivation of the tumor suppressor gene MEN-1. Patients may develop hyperparathyroidism and parathyroid gland adenomas, pituitary gland adenomas, pancreatic islet cell neoplasms, and carcinoid tumors.
C165258	Cellosaurus Disease Terminology	C123329	Multiple Endocrine Neoplasia Type 2	Multiple Endocrine Neoplasia Type 2		Multiple endocrine neoplasia caused by mutation of the RET gene. It includes the following neoplastic processes: multiple endocrine neoplasia type 2A, multiple endocrine neoplasia type 2B, and hereditary thyroid gland medullary carcinoma.
C165258	Cellosaurus Disease Terminology	C3226	Multiple Endocrine Neoplasia Type 2A	Multiple Endocrine Neoplasia Type 2A	MEA Type 2a \|\| MEA Type II \|\| MEN Type 2a \|\| MEN Type II \|\| Multiple Endocrine Adenomatosis Type 2A \|\| Multiple Endocrine Adenomatosis Type 2a \|\| Multiple Endocrine Adenomatosis Type II \|\| Multiple Endocrine Adenomatosis, Type II \|\| Multiple Endocrine Neoplasia Type 2a \|\| Multiple Endocrine Neoplasia Type II \|\| Multiple Endocrine Neoplasia, Type II	Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas, and may also develop pheochromocytomas and parathyroid gland hyperplasia.
C165258	Cellosaurus Disease Terminology	C3227	Multiple Endocrine Neoplasia Type 2B	Multiple Endocrine Neoplasia Type 2B	MEN Type 2B \|\| MEN Type IIB \|\| Multiple Endocrine Adenomatosis Type IIB \|\| Multiple Endocrine Neoplasia Type 2b \|\| Multiple Endocrine Neoplasia Type 3 \|\| Multiple Endocrine Neoplasia Type IIB \|\| Multiple Endocrine Neoplasia Type III \|\| Multiple Endocrine Neoplasia, Type III	Multiple endocrine neoplasia caused by mutation of the RET gene. Patients develop medullary thyroid carcinomas and numerous neural defects including neuromas.
C165258	Cellosaurus Disease Terminology	C202608	Multiple Mitochondrial Dysfunctions Syndrome Type 3	Multiple Mitochondrial Dysfunctions Syndrome Type 3		A rare autosomal recessive subtype of mitochondrial dysfunctions syndrome caused by mutation(s) in the IBA57 gene, encoding putative transferase CAF17, mitochondrial. It is characterized by encephalopathy, leukodystrophy and developmental regression.
C165258	Cellosaurus Disease Terminology	C3243	Multiple Sclerosis	Multiple Sclerosis		A progressive autoimmune disorder affecting the central nervous system resulting in demyelination. Patients develop physical and cognitive impairments that correspond with the affected nerve fibers.
C165258	Cellosaurus Disease Terminology	C84908	Multiple Sulfatase Deficiency Disease	Multiple Sulfatase Deficiency Disease		A rare autosomal recessive lysosomal storage disease caused by mutations in SUMF1 gene. It is characterized by deficiency of all sulfatase enzymes. Signs and symptoms include neurologic damage, mental retardation, skeletal abnormalities, hepatosplenomegaly, and ichthyosis.
C165258	Cellosaurus Disease Terminology	C84909	Multiple System Atrophy	Multiple System Atrophy	Shy-Drager Syndrome	A rare neurodegenerative disorder characterized by loss of autonomic nervous system functions and disturbances of motor, balance and muscle coordination.
C165258	Cellosaurus Disease Terminology	C129869	Multiple Vascular Disruption Syndrome	Multiple Vascular Disruption Syndrome		A rare syndrome that refers to a constellation of anomalies resulting from multiple vascular disruption.
C165258	Cellosaurus Disease Terminology	C84910	Muscular Dystrophy	Muscular Dystrophy		A group of inherited progressive muscle disorders characterized by muscle weakness and eventual death of the muscle tissues. Examples include Duchenne muscular dystrophy, Becker's muscular dystrophy, Emery-Dreifuss muscular dystrophy, facioscapulohumeral muscular dystrophy, and limb-girdle muscular dystrophy.
C165258	Cellosaurus Disease Terminology	C148369	Muscular Dystrophy Congenital, LMNA-Related	Muscular Dystrophy Congenital, LMNA-Related		An autosomal recessive muscular dystrophy caused by mutation(s) in the LMNA gene, encoding prelamin-A/C. Limb-girdle muscular dystrophy type 1B and Emery-Dreifuss muscular dystrophy-2 are allelic disorders with overlapping phenotypes.
C165258	Cellosaurus Disease Terminology	C128118	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1		An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
C165258	Cellosaurus Disease Terminology	C126742	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 2		An autosomal recessive muscular dystrophy caused by mutations in the POMT2 gene. It is associated with characteristic brain and eye malformations and profound mental retardation.
C165258	Cellosaurus Disease Terminology	C126740	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 3		An autosomal recessive muscular dystrophy caused by mutations in the POMGNT1 gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
C165258	Cellosaurus Disease Terminology	C126741	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 4		An autosomal recessive muscular dystrophy caused by mutations in the gene encoding fukutin (FKTN). It is associated with characteristic brain and eye malformations, seizures, and mental retardation.
C165258	Cellosaurus Disease Terminology	C126743	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6	Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 6		An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
C165258	Cellosaurus Disease Terminology	C133730	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1	LGMD2K \|\| Limb-Girdle Muscular Dystrophy Type 2K	An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is characterized by mental retardation without structural brain abnormalities and limb-girdle muscular dystrophy.
C165258	Cellosaurus Disease Terminology	C126739	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5	Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5	LGMD2I \|\| Limb-Girdle Muscular Dystrophy Type 2I	An autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations in the gene encoding fukutin-related protein (FKRP). It is characterized by variable age at onset, normal cognition, and no structural brain changes.
C165258	Cellosaurus Disease Terminology	C60989	Myasthenia Gravis	Myasthenia Gravis		A chronic autoimmune neuromuscular disorder characterized by skeletal muscle weakness. It is caused by the blockage of the acetylcholine receptors at the neuromuscular junction.
C165258	Cellosaurus Disease Terminology	C177546	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency	Myasthenic Syndrome, Congenital, 11, Associated with Acetylcholine Receptor Deficiency		An autosomal recessive condition caused by mutation(s) in the RAPSN gene, encoding 43 kDa receptor-associated protein of the synapse. It is characterized by postsynaptic neuromuscular junction dysfunction resulting in muscle weakness of variable severity.
C165258	Cellosaurus Disease Terminology	C3246	Mycosis Fungoides	Mycosis Fungoides		A peripheral (mature) T-cell lymphoma presenting in the skin with patches/plaques. It is characterized by epidermal and dermal infiltration of small to medium-sized T-cells with cerebriform nuclei. Patients with limited disease generally have an excellent prognosis. In the more advanced stages, the prognosis is poor. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C3247	Myelodysplastic Syndrome	Myelodysplastic Syndrome	Dysmyelopoietic Syndrome \|\| Myelodysplasia \|\| Myelodysplastic Neoplasm \|\| Myelodysplastic Syndrome/Neoplasm \|\| Oligoblastic Leukemia \|\| Smoldering Leukemia	A clonal hematopoietic disorder characterized by dysplasia and ineffective hematopoiesis in one or more of the hematopoietic cell lines. The dysplasia may be accompanied by an increase in myeloblasts, but the number is less than 20%, which, according to the WHO guidelines, is the requisite threshold for the diagnosis of acute myeloid leukemia. It may occur de novo or as a result of exposure to alkylating agents and/or radiotherapy. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C43223	Myeloid Leukemia Associated with Down Syndrome	Myeloid Leukemia Associated with Down Syndrome		Acute myeloid leukemia or myelodysplastic syndrome occurring in children with Down syndrome. The acute myeloid leukemia is usually an acute megakaryoblastic leukemia, and is associated with GATA1 gene mutation.
C165258	Cellosaurus Disease Terminology	C101201	Myelomeningocele	Myelomeningocele	Meningomyelocele \|\| Spina Bifida Cystica	A congenital abnormality in which the spinal cord and meninges protrude through a defect in the spinal column. The protrusion is above the skin surface.
C165258	Cellosaurus Disease Terminology	C4345	Myeloproliferative Neoplasm	Myeloproliferative Neoplasm	Chronic Myeloproliferative Disorder \|\| Chronic Myeloproliferative Neoplasm \|\| Myeloproliferative Disease \|\| Myeloproliferative Disorder \|\| Myeloproliferative Tumor	A group of myeloid neoplasms that includes the following: chronic myeloid leukemia, BCR-ABL1 positive; polycythemia vera; essential thrombocythemia; primary myelofibrosis; chronic neutrophilic leukemia; chronic eosinophilic leukemia, not otherwise specified; and myeloproliferative neoplasm, unclassifiable.
C165258	Cellosaurus Disease Terminology	C123815	Myhre Syndrome	Myhre Syndrome		A rare, autosomal dominant inherited disorder caused by mutations in the SMAD4 gene. It is characterized by developmental abnormalities, mild to moderate intellectual disability, hearing loss, skin stiffness, skeletal abnormalities, and typical facial features (short palpebral fissures, shortened distance between the nose and upper lip, midface hypoplasia, prognathism, cleft palate, and/or cleft lip).
C165258	Cellosaurus Disease Terminology	C27996	Myocardial Infarction	Myocardial Infarction	Heart Attack \|\| MI \|\| Myocardial Infarct	Gross necrosis of the myocardium, as a result of interruption of the blood supply to the area, as in coronary thrombosis.
C165258	Cellosaurus Disease Terminology	C84889	Myoclonic Epilepsy Associated with Ragged-Red Fibers	Myoclonic Epilepsy Associated with Ragged-Red Fibers	MERRF Syndrome	A condition that can be caused by mutation(s) in more than one mitochondrial gene. It is characterized by myoclonic epilepsy and ragged-red fibers present on muscle biopsy.
C165258	Cellosaurus Disease Terminology	C179710	Myoclonic Epilepsy of Unverricht and Lundborg	Myoclonic Epilepsy of Unverricht and Lundborg	Epilepsy, Progressive, Myoclonic 1A \|\| Unverricht-Lundborg Disease	An autosomal recessive condition caused by mutation(s) in the CSTB gene, encoding cystatin-B. It is characterized by progressive myoclonic epilepsy, with progression occurring between 6 and 13 years of age.
C165258	Cellosaurus Disease Terminology	C165674	Myoclonic-Atonic Epilepsy	Myoclonic-Atonic Epilepsy	Doose Syndrome \|\| Myoclonic-Astatic Epilepsy \|\| Myoclonic-Atonic Seizure	A genetically heterogenous condition characterized by early onset of absence and myoclonic seizures following developmental delay. Intellectual disability may develop following the onset of seizures.
C165258	Cellosaurus Disease Terminology	C83009	Myofibrillar Myopathy	Myofibrillar Myopathy		An inherited or sporadic disorder affecting the skeletal muscles.
C165258	Cellosaurus Disease Terminology	C206515	Myofibrillar Myopathy 1	Myofibrillar Myopathy 1		A subtype of myofibrillar myopathy caused by mutations in the DES gene, encoding desmin.
C165258	Cellosaurus Disease Terminology	C206516	Myofibrillar Myopathy 2	Myofibrillar Myopathy 2		An autosomal dominant subtype of myofibrillar myopathy caused by mutation(s) in the CRYAB gene, encoding alpha-crystallin B chain.
C165258	Cellosaurus Disease Terminology	C206670	Myofibrillar Myopathy 5	Myofibrillar Myopathy 5		An autosomal dominant subtype of myofibrillar myopathy caused by mutation(s) in the FLNC gene, encoding filamin-C.
C165258	Cellosaurus Disease Terminology	C157504	Myopathy due to Myoadenylate Deaminase Deficiency	Myopathy due to Myoadenylate Deaminase Deficiency		An autosomal recessive condition caused by mutation(s) in the AMPD1 gene, encoding AMP deaminase 1. The condition is characterized by exercise-induced muscle pain and/or fatigue, which may be associated with rhabdomyolysis and/or increased concentrations of creatinine kinase.
C165258	Cellosaurus Disease Terminology	C6496	Myxofibrosarcoma	Myxofibrosarcoma		A malignant fibroblastic neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma.
C165258	Cellosaurus Disease Terminology	C27781	Myxoid Liposarcoma	Myxoid Liposarcoma	Myxoid Liposarcoma \|\| Myxoid/Round Cell Liposarcoma	A liposarcoma characterized by the presence of round non-lipogenic primitive mesenchymal cells and small signet ring lipoblasts within a myxoid stoma with a branching vascular pattern. This category includes hypercellular lesions with round cell morphology, formerly known as round cell liposarcoma.
C165258	Cellosaurus Disease Terminology	C49025	Myxoinflammatory Fibroblastic Sarcoma	Myxoinflammatory Fibroblastic Sarcoma		A low grade, locally aggressive, fibroblastic neoplasm that occurs primarily in the distal extremities. It is characterized by the presence of spindle-shaped fibroblasts, multivacuolated lipoblast-like cells, bizarre ganglion-like cells with inclusion-like nuclei, myxoid stroma formation, and a mixture of acute and chronic inflammatory cells. Distant metastases are very rare.
C165258	Cellosaurus Disease Terminology	C129307	N-Acetylglutamate Synthase Deficiency	N-Acetylglutamate Synthase Deficiency		An autosomal recessive disorder caused by mutation(s) in the NAGS gene, encoding N-acetylglutamate synthase, mitochondrial. It may be characterized by failure to thrive, hyperammonemia, lethargy, seizures, and coma.
C165258	Cellosaurus Disease Terminology	C98994	NADH Dehydrogenase Deficiency	NADH Dehydrogenase Deficiency		A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy.
C165258	Cellosaurus Disease Terminology	C206113	Nanophthalmos 2	Nanophthalmos 2	Autosomal Recessive Nanophthalmos	An autosomal recessive form of nanophthalmos caused by mutation(s) in the MFRP gene, encoding membrane frizzled-related protein.
C165258	Cellosaurus Disease Terminology	C3256	Nasal Cavity Polyp	Nasal Cavity Polyp	Nasal Polyp \|\| Polyp of Nasal Cavity \|\| Polyp of the Nasal Cavity	A soft and painless polypoid mass that arises from the mucosa in the nasal cavity. It is usually the result of an inflammatory process. It may recur following surgical resection.
C165258	Cellosaurus Disease Terminology	C8192	Nasal Cavity Squamous Cell Carcinoma	Nasal Cavity Squamous Cell Carcinoma	Squamous Cell Carcinoma of Nasal Cavity \|\| Squamous Cell Carcinoma of the Nasal Cavity	A squamous cell carcinoma that arises from the nasal cavity mucosa. Signs and symptoms include nasal fullness and obstruction, pain, epistaxis, and the presence of a nasal mass.
C165258	Cellosaurus Disease Terminology	C4684	Nasal Type Extranodal NK/T-Cell Lymphoma	Nasal Type Extranodal NK/T-Cell Lymphoma	Angiocentric T-Cell Lymphoma \|\| Extranodal NK/T-Cell Lymphoma \|\| Extranodal NK/T-Cell Lymphoma, Nasal Type	An aggressive, predominantly extranodal, mature T-cell non-Hodgkin lymphoma. It is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. The nasal cavity is the most common site of involvement. Patients often present with midfacial destructive lesions (lethal midline granuloma). The disease may disseminate rapidly to various anatomic sites including the gastrointestinal tract, skin, testis, and cervical lymph nodes. It is also known as angiocentric T-cell lymphoma. The term "polymorphic reticulosis" has been widely used to describe the morphologic changes seen in this type of lymphoma. However, the latter term may also apply to lymphomatoid granulomatosis, which is an angiocentric and angiodestructive EBV positive B-cell lymphoproliferative disorder.
C165258	Cellosaurus Disease Terminology	C3871	Nasopharyngeal Carcinoma	Nasopharyngeal Carcinoma	Cancer of Nasopharynx \|\| Cancer of the Nasopharynx \|\| Carcinoma of Nasopharynx \|\| Carcinoma of the Nasopharynx \|\| Nasopharyngeal Cancer	A carcinoma arising from the nasopharyngeal epithelium. It includes the following types: keratinizing squamous cell carcinoma, nonkeratinizing carcinoma (differentiated and undifferentiated), basaloid squamous cell carcinoma, and papillary adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C54389	Nasopharyngeal Differentiated Carcinoma	Nasopharyngeal Differentiated Carcinoma	Nasopharyngeal Non-Keratinizing Differentiated Carcinoma \|\| Nasopharyngeal Nonkeratinizing Differentiated Carcinoma	A nonkeratinizing nasopharyngeal carcinoma characterized by the presence of cells without prominent nucleoli, cellular stratification, and a lymphoplasmacytic infiltrate.
C165258	Cellosaurus Disease Terminology	C82217	Natural Killer Cell Lymphoblastic Leukemia/Lymphoma	Natural Killer Cell Lymphoblastic Leukemia/Lymphoma	NK Cell Lymphoblastic Leukemia/Lymphoma \|\| NK Lymphoblastic Leukemia/Lymphoma \|\| NK-Lymphoblastic Leukemia/Lymphoma \|\| Precursor NK Cell Lymphoblastic Leukemia/Lymphoma \|\| Precursor Natural Killer Cell Lymphoblastic Leukemia/Lymphoma	A precursor lymphoid neoplasm that expresses CD56 and immature T-cell markers, lacks B-lymphoid and myeloid markers, and has immunoglobulin and T-cell receptor genes in the germline configuration.
C165258	Cellosaurus Disease Terminology	C206112	Naxos Disease	Naxos Disease	KWWH Type I \|\| Keratoderma with Woolly Hair Type I	An autosomal recessive condition caused by mutation(s) in the JUP gene, encoding junction plakoglobin. It is characterized by ectodermal abnormalities and right ventricular arrhythmogenic cardiomyopathy.
C165258	Cellosaurus Disease Terminology	C118784	Nemaline Myopathy 2	Nemaline Myopathy 2	NEM2	An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness.
C165258	Cellosaurus Disease Terminology	C129870	Nemaline Myopathy 3	Nemaline Myopathy 3		An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles.
C165258	Cellosaurus Disease Terminology	C164225	Nemaline Myopathy 4	Nemaline Myopathy 4		An autosomal dominant myopathy caused by mutation(s) in the TPM2 gene, encoding tropomyosin beta chain. Classification of nemaline myopathies by clinical features is not optimal, as the phenotypes are highly variable.
C165258	Cellosaurus Disease Terminology	C129871	Nemaline Myopathy 8	Nemaline Myopathy 8		An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles.
C165258	Cellosaurus Disease Terminology	C99251	Neonatal Adrenoleukodystrophy	Neonatal Adrenoleukodystrophy		A rare metabolic disorder that affects neonates. It is characterized by damage of the white matter in the brain and degeneration of the adrenal glands. It manifests with hyperactivity, paralysis, muscular weakness, crossed eyes, hearing loss, seizures, and coma.
C165258	Cellosaurus Disease Terminology	C101200	Neonatal Alloimmune Thrombocytopenia	Neonatal Alloimmune Thrombocytopenia		Thrombocytopenia that occurs in neonates as a consequence of transplacental passage of maternal alloantibodies directed against fetal platelet antigens.
C165258	Cellosaurus Disease Terminology	C129980	Neonatal Hemochromatosis	Neonatal Hemochromatosis		An idiopathic form of neonatal hemochromatosis, characterized by liver failure and iron accumulation in the tissues.
C165258	Cellosaurus Disease Terminology	C99236	Neonatal Lupus Erythematosus	Neonatal Lupus Erythematosus		A self-limited skin rash that appears in the neonatal period and usually resolves in four to six months after birth. It is caused by placental transfer of maternal autoantibodies, usually anti-Ro antibody. In a minority of cases, it is associated with congenital heart block, hepatitis, or thrombocytopenia. The mothers of the affected babies may be asymptomatic or suffer from systemic lupus erythematosus, Sjogren's syndrome, or rheumatoid arthritis.
C165258	Cellosaurus Disease Terminology	C121565	Neonatal Progeroid Syndrome	Neonatal Progeroid Syndrome	Wiedemann-Rautenstrauch Syndrome	A rare autosomal recessive disorder associated with abnormalities in bone maturation, and lipids and hormone metabolism and characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, variable mental impairment, and death in childhood. Its cause is unknown.
C165258	Cellosaurus Disease Terminology	C131853	Neonatal Severe Primary Hyperparathyroidism	Neonatal Severe Primary Hyperparathyroidism		A genetic condition caused by loss-of-function mutation(s) in the CASR gene, encoding extracellular calcium-sensing receptor. It is characterized by severe hypercalcemia and metabolic bone disease occurring in the first six months of life.
C165258	Cellosaurus Disease Terminology	C3262	Neoplasm	Neoplasm	Neoplasia \|\| Neoplastic Growth	A benign or malignant tissue growth resulting from uncontrolled cell proliferation. Benign neoplastic cells resemble normal cells without exhibiting significant cytologic atypia, while malignant cells exhibit overt signs such as dysplastic features, atypical mitotic figures, necrosis, nuclear pleomorphism, and anaplasia. Representative examples of benign neoplasms include papillomas, cystadenomas, and lipomas; malignant neoplasms include carcinomas, sarcomas, lymphomas, and leukemias.
C165258	Cellosaurus Disease Terminology	C74998	Nephronophthisis 1	Nephronophthisis 1	Familial Juvenile Nephronophthisis \|\| Juvenile Nephronophthisis	Progressive tubulointerstitial nephritis inherited in an autosomal recessive manner. It is caused by mutations in the NPHP1 gene. Patients present with anemia, polyuria, and polydipsia during childhood. The progressive bilateral kidney damage results in renal failure.
C165258	Cellosaurus Disease Terminology	C129932	Nephropathic Cystinosis	Nephropathic Cystinosis		An autosomal recessive condition caused by mutation(s) in the CTNS gene, encoding cystinosin. It is a sub-type of cystinosis, in which accumulation of cystine in the kidney results in renal dysfunction.
C165258	Cellosaurus Disease Terminology	C34845	Nephrotic Syndrome	Nephrotic Syndrome		A collection of symptoms that include severe edema, proteinuria, and hypoalbuminemia; it is indicative of renal dysfunction.
C165258	Cellosaurus Disease Terminology	C122795	Nephrotic Syndrome - NPHS1 Associated	Nephrotic Syndrome - NPHS1 Associated		Nephrotic syndrome attributed to mutation(s) in the NPHS1 gene, which encodes the protein nephrin, and most commonly presents during the first three months of life.
C165258	Cellosaurus Disease Terminology	C123095	Nephrotic Syndrome - NPHS2 Associated	Nephrotic Syndrome - NPHS2 Associated		Nephrotic syndrome attributed to mutation(s) in the NPHS2 gene.
C165258	Cellosaurus Disease Terminology	C123106	Nephrotic Syndrome - WT1 Associated	Nephrotic Syndrome - WT1 Associated		Nephrotic syndrome attributed to mutation(s) in the WT1 gene.
C165258	Cellosaurus Disease Terminology	C35540	Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis	Nephrotic Syndrome with Lesion of Minimal Change Glomerulonephritis		A renal functional disorder characterized by proteinuria, edema, hyperlipidemia and hypoalbuminemia. It results from damage to the renal vascular filtration apparatus. It is further characterized by an inflammatory reaction in the glomerular capillaries and the effacement of the surrounding epithelial cell foot processes worsening protein leakage. Sequelae may include hypertension, atherosclerosis, infection, hypercoagulablity and renal failure.
C165258	Cellosaurus Disease Terminology	C26835	Nervous System Disorder	Nervous System Disorder	Neurologic Disorder	A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves.
C165258	Cellosaurus Disease Terminology	C84922	Netherton Syndrome	Netherton Syndrome		A rare autosomal recessive form of ichthyosis caused by mutations in the SPINK5 gene. Patients have spiky and fragile hair.
C165258	Cellosaurus Disease Terminology	C125596	Neuraminidase Deficiency	Neuraminidase Deficiency	Mucolipidosis I \|\| Sialidosis Type II	An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid associated with neuraminidase deficiency.
C165258	Cellosaurus Disease Terminology	C3270	Neuroblastoma	Neuroblastoma	Neuroblastoma (Schwannian Stroma-Poor)	A malignant neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.
C165258	Cellosaurus Disease Terminology	C202073	Neurodegeneration with Brain Iron Accumulation 2A	Neurodegeneration with Brain Iron Accumulation 2A		An autosomal recessive condition caused by mutation(s) in the PLA2G6 gene, encoding 85/88 kDa calcium-independent phospholipase A2. It is characterized by axonal swelling and spheroid bodies in the central nervous system. The onset is typically in the first two years of life.
C165258	Cellosaurus Disease Terminology	C175707	Neurodegeneration With Brain Iron Accumulation 4	Neurodegeneration with Brain Iron Accumulation 4		A genetic condition associated with mutation(s) in the C19orf12 gene, encoding protein C19orf12. It is characterized by progressive spastic paraplegia, parkinsonism unresponsive to L-DOPA treatment, and psychiatric or behavioral symptoms.
C165258	Cellosaurus Disease Terminology	C175210	Neurodegeneration with Brain Iron Accumulation 5	Neurodegeneration with Brain Iron Accumulation 5	Beta-propeller Protein-associated Neurodegeneration	An X-linked dominant condition caused by mutation(s) in the WDR45 gene, encoding WD repeat domain phosphoinositide-interacting protein 4. it is characterized by global developmental delay in early childhood, and subsequent dystonia and dementia in young adulthood.
C165258	Cellosaurus Disease Terminology	C186789	Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies	Neurodevelopmental Disorder with Brain Abnormalities, Poor Growth, and Dysmorphic Facies	Intellectual Disability-Strabismus Syndrome	An autosomal recessive disorder caused by mutation(s) in the ADAT3 gene, encoding probable inactive tRNA-specific adenosine deaminase-like protein 3. It is characterized by a neurodevelopmental disorder with brain abnormalities, poor growth, and abnormal facies.
C165258	Cellosaurus Disease Terminology	C205642	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities	Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities		An autosomal dominant condition caused by mutation(s) in the NOVA2 gene, encoding RNA-binding protein Nova-2. It is characterized by global developmental delay, impaired speech development, and behavioral characteristics of autism.
C165258	Cellosaurus Disease Terminology	C206518	Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant	Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Dominant		An autosomal dominant condition caused by mutation(s) in the GRIN1 gene, encoding glutamate receptor ionotropic, NMDA 1. It is characterized by developmental delay, intellectual disability and may include epilepsy and associated muscular disorders.
C165258	Cellosaurus Disease Terminology	C206532	Neurodevelopmental Disorder with or without Variable Brain Abnormalities	Neurodevelopmental Disorder with or without Variable Brain Abnormalities		An autosomal dominant condition caused by mutation(s) in the MAPK8IP3 gene, encoding c-Jun-amino-terminal kinase-interacting protein 3. It is commonly characterized by global developmental delay, intellectual disability, and spastic diplegia. There may be associated brain abnormalities include cerebellar and/or cerebral atrophy, and hypoplasia of the corpus callosum.
C165258	Cellosaurus Disease Terminology	C192636	Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy	Neurodevelopmental Disorder with Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, and Brain Atrophy		An autosomal recessive condition caused by mutations(s) in the TAF8 gene, encoding transcription initiation factor TFIID subunit 8. It is characterized by severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy.
C165258	Cellosaurus Disease Terminology	C176897	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	Neurodevelopmental Disorder with Spastic Diplegia and Visual Defects	Mental Retardation, Autosomal Dominant 19	An autosomal dominant condition caused by mutation(s) in the CTNNB1 gene, encoding catenin beta-1. It is characterized by severe intellectual disability, progressive spastic diplegia, visual impairment, and dysmorphic craniofacial features.
C165258	Cellosaurus Disease Terminology	C22150	Neuroendocrine Adenoma of the Mouse Intestinal Tract	Neuroendocrine Adenoma of the Mouse Intestinal Tract
C165258	Cellosaurus Disease Terminology	C22163	Neuroendocrine Cell Carcinoma of the Mouse Intestinal Tract	Neuroendocrine Cell Carcinoma of the Mouse Intestinal Tract		Neuroendocrine cell carcinoma of the intestinal tract occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C3272	Neurofibroma	Neurofibroma	Neurofibroma (WHO Grade I)	An intraneural or extraneural neoplasm arising from nerve tissues and neural sheaths. It is composed of perineurial-like fibroblasts and Schwann cells. It usually presents as a localized cutaneous lesion and less often as a circumscribed peripheral nerve mass. Patients with neurofibromatosis type 1 present with multiple masses. Neurofibromas which arise from major nerves and plexiform neurofibromas are precursor lesions to malignant peripheral nerve sheath tumors.
C165258	Cellosaurus Disease Terminology	C3273	Neurofibromatosis Type 1	Neurofibromatosis Type 1	Neurofibromatosis 1 \|\| Peripheral Neurofibromatosis \|\| Von Recklinghausen Disease	The most common type of neurofibromatosis. It is characterized clinically by cutaneous and subcutaneous tumors with patches of hyperpigmentation. The hyperpigmented skin areas, are present from birth and found anywhere on the body surface. They can vary markedly in size and color. The dark brown areas are called cafe-au-lait spots. The multiple cutaneous and subcutaneous tumors are nerve sheath tumors, called neurofibromas. They can develop anywhere along the peripheral nerve fibers. Neurofibromas can become quite large, causing a major disfigurement, eroding bone, and compressing various peripheral nerve structures. Type 1 neurofibromatosis has dominant inheritance, with a gene locus on the proximal long arm of chromosome 17.
C165258	Cellosaurus Disease Terminology	C3274	Neurofibromatosis Type 2	Neurofibromatosis Type 2	Acoustic Neurofibromatosis \|\| Bilateral Acoustic Neurofibromatosis \|\| Central Neurofibromatosis \|\| Neurofibromatosis 2	An autosomal dominant disorder caused by mutations in the NF2 tumor suppressor gene. It is characterized by the development of peripheral and central nervous system tumors including acoustic schwannomas, neurofibromas, gliomas, and meningiomas.
C165258	Cellosaurus Disease Terminology	C84934	Neuromyelitis Optica	Neuromyelitis Optica	Devic Syndrome	An autoimmune inflammatory syndrome characterized by optic neuritis and myelitis. Signs and symptoms include loss of vision, weakness and paralysis of the extremities, and loss of sensation.
C165258	Cellosaurus Disease Terminology	C85861	Neuronal Ceroid Lipofuscinosis Type 1	Neuronal Ceroid Lipofuscinosis Type 1	Infantile Neuronal Ceroid Lipofuscinosis \|\| Santavuori Disease	A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
C165258	Cellosaurus Disease Terminology	C188214	Neuronal Ceroid Lipofuscinosis Type 11	Neuronal Ceroid Lipofuscinosis Type 11		An autosomal recessive condition caused by mutation(s) in the GRN gene, encoding progranulin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
C165258	Cellosaurus Disease Terminology	C85864	Neuronal Ceroid Lipofuscinosis Type 2	Neuronal Ceroid Lipofuscinosis Type 2	Late Infantile Neuronal Ceroid Lipofuscinosis	A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
C165258	Cellosaurus Disease Terminology	C61258	Neuronal Ceroid Lipofuscinosis Type 3	Neuronal Ceroid Lipofuscinosis Type 3	Batten Disease	A condition associated with mutation(s) in the CLN3 gene, encoding battenin. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
C165258	Cellosaurus Disease Terminology	C128116	Neuronal Ceroid Lipofuscinosis Type 4B	Neuronal Ceroid Lipofuscinosis Type 4B	Autosomal Dominant Kufs Disease \|\| Neuronal Ceroid Lipofuscinosis, Parry Type	A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.
C165258	Cellosaurus Disease Terminology	C192090	Neuronal Ceroid Lipofuscinosis Type 5	Neuronal Ceroid Lipofuscinosis Type 5		An autosomal recessive subtype of neuronal ceroid lipofuscinosis caused, by mutation(s) in the CLN5 gene, encoding ceroid-lipofuscinosis neuronal protein 5.
C165258	Cellosaurus Disease Terminology	C122655	Neuronal Intranuclear Inclusion Disease	Neuronal Intranuclear Inclusion Disease		A rare, slowly progressive, multisystem neurodegenerative disorder that usually affects children. It is characterized by the presence of eosinophilic neuronal intranuclear inclusions and neuronal loss. It results in abnormalities of the central, peripheral, and autonomic nervous systems. Patients present with ataxia, extra-pyramidal signs, absent deep tendon reflexes, weakness, muscle wasting, foot deformities, and behavioral or cognitive abnormalities.
C165258	Cellosaurus Disease Terminology	C4731	Neuropathy	Neuropathy		A disorder affecting the cranial nerves or the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.
C165258	Cellosaurus Disease Terminology	C170433	Neuropathy, Hereditary Sensory and Autonomic, Type I	Neuropathy, Hereditary Sensory and Autonomic, Type I	Hereditary Sensory and Autonomic Neuropathy Type 1	An autosomal dominant condition caused by mutation(s) in the SPTLC1 gene, encoding serine palmitoyltransferase long chain base subunit 1. It is characterized by distal sensory impairment with variable autonomic and motor involvement.
C165258	Cellosaurus Disease Terminology	C118633	Neuropathy, Hereditary Sensory and Autonomic, Type IV	Neuropathy, Hereditary Sensory and Autonomic, Type IV	CIPA \|\| Congenital Insensitivity to Pain with Anhidrosis \|\| Hereditary Sensory and Autonomic Neuropathy Type IV	A rare, autosomal recessive inherited disorder caused by mutations in the NTRK1 gene. It is characterized by inability to feel pain and temperature that leads to repeated unintentional self-injuries, and decreased or absent sweating that leads to hyperpyrexia and febrile seizures.
C165258	Cellosaurus Disease Terminology	C156360	Neuropathy, Hereditary Sensory and Autonomic, Type V	Neuropathy, Hereditary Sensory and Autonomic, Type V	Hereditary Sensory and Autonomic Neuropathy Type V	An autosomal recessive condition caused by mutation(S) in the NGF gene, encoding beta-nerve growth factor. It is characterized by loss of pain sensation, particularly in the extremities.
C165258	Cellosaurus Disease Terminology	C125388	Neuropathy, Hereditary Sensory and Autonomic, Type VII	Neuropathy, Hereditary Sensory and Autonomic, Type VII	Hereditary Sensory and Autonomic Neuropathy Type VII	A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.
C165258	Cellosaurus Disease Terminology	C176898	Neuropathy, Recurrent, with Pressure Palsies	Neuropathy, Recurrent, with Pressure Palsies	Hereditary Neuropathy with Liability to Pressure Palsies	An autosomal dominant condition caused by mutation(s) in the PMP22 gene, encoding peripheral myelin protein 22. Neuropathy is precipitated by mechanical compression on a nerve, typically with onset in the first and second decades.
C165258	Cellosaurus Disease Terminology	C80520	Neutropenia	Neutropenia	Neutrophil Count Decreased	A decrease in the number of neutrophils in the peripheral blood.
C165258	Cellosaurus Disease Terminology	C2892	Nevoid Basal Cell Carcinoma Syndrome	Nevoid Basal Cell Carcinoma Syndrome	Basal Cell Nevus Syndrome \|\| Gorlin Syndrome \|\| Gorlin-Goltz Syndrome \|\| Multiple Basal Cell Carcinomas	An autosomal dominant genetic syndrome caused by abnormalities in the PTCH and SUFU gene. It is characterized by multiple basal cell carcinomas at a young age, odontogenic keratocysts, and skeletal defects (bifurcated and splayed ribs, fusion of vertebrae, spinal bifida). Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.
C165258	Cellosaurus Disease Terminology	C7582	Nevus of Ito	Nevus of Ito	Hypomelanosis of Ito \|\| Ito's Nevus	A large brown, blue, or gray hamartoma of dermal melanocytes, usually on the shoulder and upper arm that is most commonly found in Asian populations and in females. It is sometimes associated with sensory changes in the involved skin area, but very rarely becomes cancerous.
C165258	Cellosaurus Disease Terminology	C205644	Nicolaides-Baraitser Syndrome	Nicolaides-Baraitser Syndrome		An autosomal dominant condition caused by mutation(s) in the SMARCA2 gene, encoding probable global transcription activator SNF2L2. It is characterized by severe intellectual disability, early-onset seizures, and facial dysmorphia.
C165258	Cellosaurus Disease Terminology	C61269	Niemann-Pick Disease	Niemann-Pick Disease		An autosomal recessive inherited lysosomal storage disease characterized by deficiency of sphingomyelinase. It results in the accumulation of sphingomyelin in the liver, spleen, brain, lungs, and bone marrow. Signs and symptoms include hepatosplenomegaly, pancytopenia, ataxia, dystonia, and dementia.
C165258	Cellosaurus Disease Terminology	C126561	Niemann-Pick Disease, Type A	Niemann-Pick Disease, Type A		An autosomal recessive inherited lysosomal storage disease caused by mutations in the SMPD1 gene. It manifests with hepatosplenomegaly, failure to thrive, psychomotor regression, and interstitial lung disease.
C165258	Cellosaurus Disease Terminology	C126866	Niemann-Pick Disease, Type B	Niemann-Pick Disease, Type B	Type B Niemann-Pick Disease	An autosomal recessive lysosomal storage disease caused by mutations in the SMPD1 gene, encoding sphingomyelin phosphodiesterase. The condition is characterized by hepatosplenomegaly and interstitial lung disease, but with little neurological involvement. It is part of a continuum of disease resulting from decrease activity of sphingomyelin phosphodiesterase, with Type B being the milder form.
C165258	Cellosaurus Disease Terminology	C126864	Niemann-Pick Disease, Type C1	Niemann-Pick Disease, Type C1	Type C1 Niemann-Pick Disease	Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
C165258	Cellosaurus Disease Terminology	C126865	Niemann-Pick Disease, Type C2	Niemann-Pick Disease, Type C2	Type C2 Niemann-Pick Disease	Type C Niemann-Pick disease associated with a mutation in the gene NPC2, encoding Niemann-Pick C2 protein.
C165258	Cellosaurus Disease Terminology	C4692	Nijmegen Breakage Syndrome	Nijmegen Breakage Syndrome		A disorder, wherein unstable chromosomes have a tendency to break and become rearranged, characterized by microcephaly, stunted growth, subnormal mental development, cafe-au-lait spots, and immunodeficiency. The syndrome is named after the University of Nijmegen in the Netherlands. (JABL99)
C165258	Cellosaurus Disease Terminology	C153178	Nijmegen Breakage Syndrome-Like Disorder	Nijmegen Breakage Syndrome-Like Disorder	RAD50 Deficiency	A condition caused by mutation(s) in the RAD50 gene, encoding DNA repair protein RAD50. It is characterized by microcephaly and chromosomal instability.
C165258	Cellosaurus Disease Terminology	C7258	Nodular Lymphocyte Predominant Hodgkin Lymphoma	Nodular Lymphocyte Predominant B-Cell Lymphoma	Nodular Lymphocyte Predominant B-Cell Lymphoma/Nodular Lymphocyte Predominant Hodgkin Lymphoma \|\| Nodular Lymphocyte Predominant Hodgkin Lymphoma \|\| Nodular Lymphocyte Predominant Hodgkin's Lymphoma	A B-cell lymphoma characterized by the presence of scattered clonal cells known as lymphocyte predominant cells (LP cells) in a background of reactive lymphocytes and histiocytes, and formation of a nodular or nodular and diffuse growth pattern.
C165258	Cellosaurus Disease Terminology	C176900	Nonaka Myopathy	Nonaka Myopathy	GNE Myopathy	An autosomal recessive condition caused by mutation(s) in the GNE gene, encoding bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. It is characterized by distal muscle weakness and atrophy, especially the tibialis anterior, and sparing of the quadriceps.
C165258	Cellosaurus Disease Terminology	C84444	Nonalcoholic Fatty Liver Disease	Nonalcoholic Fatty Liver Disease	NAFLD - Nonalcoholic Fatty Liver Disease	A term referring to fatty replacement of the hepatic parenchyma which is not related to alcohol use.
C165258	Cellosaurus Disease Terminology	C206118	Non-BRCA Hereditary Breast Carcinoma	Non-BRCA Hereditary Breast Carcinoma	Non-BRCA Familial Breast Cancer \|\| Non-BRCA Familial Breast Carcinoma \|\| Non-BRCA Hereditary Breast Cancer \|\| Non-BRCA-Associated Breast Carcinoma	Hereditary breast carcinoma that is associated with a mutation in a gene other than the BRCA genes.
C165258	Cellosaurus Disease Terminology	C121721	Non-Functioning Pituitary Gland Macroadenoma	Non-Functioning Pituitary Neuroendocrine Tumor/Macroadenoma	Non-Functioning PitNET/Macroadenoma \|\| Non-Functioning Pituitary Gland Macroadenoma \|\| Nonfunctional Pituitary Gland Macroadenoma \|\| Nonfunctioning Pituitary Gland Macroadenoma	A pituitary neuroendocrine tumor/macroadenoma not associated with a hormonal syndrome.
C165258	Cellosaurus Disease Terminology	C39991	Non-Gestational Ovarian Choriocarcinoma	Non-Gestational Ovarian Choriocarcinoma		A malignant germ cell tumor that arises from the ovary and is composed of cytotrophoblasts, syncytiotrophoblasts, and extravillous trophoblasts. The prognosis is less favorable than gestational choriocarcinoma.
C165258	Cellosaurus Disease Terminology	C3211	Non-Hodgkin Lymphoma	Non-Hodgkin Lymphoma	Non-Hodgkin's Lymphoma \|\| Non-Hodgkin's Lymphoma (NHL)	Distinct from Hodgkin lymphoma both morphologically and biologically, non-Hodgkin lymphoma (NHL) is characterized by the absence of Reed-Sternberg cells, can occur at any age, and usually presents as a localized or generalized lymphadenopathy associated with fever and weight loss. The clinical course varies according to the morphologic type. NHL is clinically classified as indolent, aggressive, or having a variable clinical course. NHL can be of B-or T-/NK-cell lineage.
C165258	Cellosaurus Disease Terminology	C27604	Non-Neoplastic Eye Disorder	Non-Neoplastic Eye Disorder	Non-Neoplastic Eye Disease	A non-neoplastic disorder that affects the eye.
C165258	Cellosaurus Disease Terminology	C34854	Noonan Syndrome	Noonan Syndrome		A genetic syndrome caused by mutations in the PTPN11 gene (over 50% of the cases) or less frequently mutations in the SOS1, RAF1, or KRAS genes. It is characterized by short stature, webbed neck, hypertelorism, low-set ears, deafness, and thrombocytopenia or abnormal platelet function.
C165258	Cellosaurus Disease Terminology	C118634	Norrie Syndrome	Norrie Syndrome		A rare, X-linked recessive inherited syndrome caused by mutations in the NDP gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.
C165258	Cellosaurus Disease Terminology	C45716	NUT Carcinoma	NUT Carcinoma	Carcinoma with t(15;19)(q13;p13.1) Translocation \|\| Midline Carcinoma of Children and Young Adults with NUT Rearrangement \|\| NUT Midline Carcinoma \|\| Nuclear Protein in Testis (NUT) Midline Carcinoma \|\| Nuclear Protein in Testis Midline Carcinoma	A rare, highly aggressive and lethal carcinoma that affects children and young adults. It arises from midline epithelial structures, most commonly the head, neck, and mediastinum. It is a poorly differentiated carcinoma and is characterized by mutations and rearrangement of the NUT gene. A balanced translocation t(15;19) is present that results in the creation of a fusion gene involving the NUT gene, most commonly BRD4-NUT fusion gene.
C165258	Cellosaurus Disease Terminology	C88411	Obsessive Compulsive Disorder	Obsessive Compulsive Disorder		A disorder characterized by the presence of persistent and recurrent irrational thoughts (obsessions), resulting in marked anxiety and repetitive excessive behaviors (compulsions) as a way to try to decrease that anxiety.
C165258	Cellosaurus Disease Terminology	C118785	Ocular Albinism Type 1	Ocular Albinism Type 1	Nettleship-Falls Syndrome \|\| OA1	An X-linked inherited disorder caused by mutations in the GPR143 gene. It is characterized by reduced visual acuity and reduced stereoscopic vision. Other abnormalities include nystagmus, strabismus, and photophobia.
C165258	Cellosaurus Disease Terminology	C8562	Ocular Melanoma	Ocular Melanoma	Eye Melanoma \|\| Melanoma of Eye \|\| Melanoma of the Eye	A melanoma that arises from the structures of the eye or ocular adnexa.
C165258	Cellosaurus Disease Terminology	C84940	Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome		An X-linked inherited multisystem metabolic disorder caused by mutations in the OCRL1 gene. The main manifestations of this disorder result from involvement of the eyes, nervous system and kidneys. Signs and symptoms include congenital cataracts, infantile glaucoma, intellectual disability, hypotonia, aminoaciduria and renal tubular dysfunction.
C165258	Cellosaurus Disease Terminology	C168731	Oculocutaneous Albinism Type 1A	Oculocutaneous Albinism Type 1A		Oculocutaneous albinism inherited in an autosomal recessive pattern, and caused by mutation(s) in the TYR gene, encoding tyrosinase.
C165258	Cellosaurus Disease Terminology	C84942	Oculopharyngeal Muscular Dystrophy	Oculopharyngeal Muscular Dystrophy		An autosomal dominant disorder caused by mutations in the PABPN1 gene, encoding polyadenylate-binding protein 2. The condition is characterized by progressive ptosis, dysphagia and weakness of the muscles of the face, neck, and extraocular muscles.
C165258	Cellosaurus Disease Terminology	C190873	Oculopharyngodistal Myopathy 2	Oculopharyngodistal Myopathy 2		An autosomal dominant condition caused by mutation(s) in the GIPC1 gene, encoding PDZ domain-containing protein GIPC1. It is characterized by distal muscle weakness and ophthalmoplegia, with a slowly progressive course.
C165258	Cellosaurus Disease Terminology	C188215	Ogden Syndrome	Ogden Syndrome		An X-linked condition caused by mutation(s) in the NAA10 gene, encoding N-alpha-acetyltransferase 10. It is characterized by characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic facial features, and hypotonia.
C165258	Cellosaurus Disease Terminology	C206524	Ohdo Syndrome, SBBYS Variant	Ohdo Syndrome, SBBYS Variant	Blepharophimosis-Intellectual Disability Syndrome, SBBYS Type \|\| Say-Barber-Biesecker-Young-Simpson Syndrome	An autosomal dominant condition caused by mutation(s) in the KAT6B gene encoding histone acetyltransferase KAT6B. It is characterized by intellectual disability, distinctive facial features. Other characteristics are variable, but often include absent knee caps in males.
C165258	Cellosaurus Disease Terminology	C3789	Olfactory Neuroblastoma	Olfactory Neuroblastoma	Esthesioneuroblastoma \|\| Esthesioneuroepithelioma \|\| Olfactory Esthesioneuroblastoma \|\| Olfactory Neuroepithelioma	A rare neuroectodermal tumor originating from olfactory receptor cells in the sinonasal tract. In rare cases, it can be ectopic and originate from other sites such as the sellar region. Microscopically, it is characterized by neuroblastic differentiation with occasional formation of rosettes. If the tumor is not resected at an early stage, the prognosis is usually poor.
C165258	Cellosaurus Disease Terminology	C4050	Oligoastrocytoma	Oligoastrocytoma	Mixed Astrocytic-Oligodendroglial Neoplasm \|\| Mixed Astrocytic-Oligodendroglial Tumor \|\| Mixed Astrocytoma-Oligodendroglioma \|\| Mixed Oligo-Astrocytoma \|\| WHO Grade 2 Mixed Glioma \|\| WHO Grade II Mixed Glioma	A WHO grade 2 tumor composed of a conspicuous mixture of two distinct neoplastic cell types morphologically resembling the tumor cells in oligodendroglioma and diffuse astrocytoma. (WHO)
C165258	Cellosaurus Disease Terminology	C3288	Oligodendroglioma	Oligodendroglioma	WHO Grade 2 Oligodendroglial Neoplasm \|\| WHO Grade 2 Oligodendroglial Tumor \|\| WHO Grade II Oligodendroglial Neoplasm \|\| WHO Grade II Oligodendroglial Tumor \|\| Well Differentiated Oligodendroglial Tumor \|\| Well Differentiated Oligodendroglioma	A well-differentiated (WHO grade 2), diffusely infiltrating neuroglial tumor, typically located in the cerebral hemispheres. It is composed predominantly of cells which morphologically resemble oligodendroglia. The neoplastic cells have rounded homogeneous nuclei and, on paraffin sections, a swollen, clear cytoplasm ('honeycomb' appearance). (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C61240	Omenn Syndrome	Omenn Syndrome		An autosomal recessive combined immunodeficiency syndrome caused by mutations in the RAG-1 and RAG-2 genes. It is characterized by the presence of alopecia, erythroderma, desquamation, lymphadenopathy, and chronic diarrhea.
C165258	Cellosaurus Disease Terminology	C188145	Oocyte Maturation Defect-4	Oocyte Maturation Defect-4		An autosomal recessive phenotypically variable condition caused by mutation(s) in the PATL2 gene, encoding protein PAT1 homolog 2. It is characterized by oocyte maturation defects.
C165258	Cellosaurus Disease Terminology	C27769	Opisthorchis Viverrini-Related Cholangiocarcinoma	Opisthorchis Viverrini-Related Cholangiocarcinoma	Liver Fluke-Related Cholangiocarcinoma	A cholangiocarcinoma that has developed following infection with Opisthorchis viverrini.
C165258	Cellosaurus Disease Terminology	C125487	Opitz G/BBB Syndrome	Opitz G/BBB Syndrome	Opitz G Syndrome \|\| Opitz GBBB Syndrome \|\| Opitz-G Syndrome	An X-linked syndrome caused by mutations in the MID1 gene or autosomal dominant syndrome caused by changes in chromosome 22. It is characterized by ocular hypertelorism, and defects of the larynx, trachea, or esophagus. Most males have hypospadias, cryptorchidism, underdeveloped scrotum, or a scrotum divided into two lobes. Mild intellectual disability and developmental delays occur in approximately half of the affected individuals.
C165258	Cellosaurus Disease Terminology	C169000	Optic Atrophy 1	Optic Atrophy 1	Kjer-type Optic Atrophy	An autosomal dominant form of hereditary optic atrophy caused by mutation(s) in the OPA1 gene, encoding dynamin-like 120 kDa protein, mitochondrial.
C165258	Cellosaurus Disease Terminology	C36262	Oral Cavity Leukoplakia	Oral Cavity Leukoplakia	Leukoplakia of Mouth \|\| Leukoplakia of the Mouth \|\| Mouth Leukoplakia	A white patch or plaque on the oral cavity mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.
C165258	Cellosaurus Disease Terminology	C5915	Oral Cavity Mucosal Melanoma	Oral Cavity Mucosal Melanoma	Mouth Mucosal Melanoma \|\| Mucosal Melanoma of Mouth \|\| Mucosal Melanoma of Oral Cavity \|\| Mucosal Melanoma of the Mouth \|\| Mucosal Melanoma of the Oral Cavity	A rare melanoma that arises from the oral cavity. It is associated with a poor prognosis.
C165258	Cellosaurus Disease Terminology	C6242	Oral Cavity Pleomorphic Adenoma	Oral Cavity Pleomorphic Adenoma	Benign Mixed Salivary Tumor of Oral Cavity \|\| Benign Mixed Salivary Tumor of the Oral Cavity \|\| Pleomorphic Adenoma of Oral Cavity \|\| Pleomorphic Adenoma of the Oral Cavity	A benign, slow-growing and painless neoplasm that arises from the salivary glands in the oral cavity. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation.
C165258	Cellosaurus Disease Terminology	C4833	Oral Cavity Squamous Cell Carcinoma	Oral Cavity Squamous Cell Carcinoma	Mouth SCC \|\| Mouth Squamous Cell Carcinoma \|\| Oral Cavity SCC \|\| SCC of Mouth \|\| SCC of Oral Cavity \|\| SCC of the Mouth \|\| SCC of the Oral Cavity \|\| Squamous Cell Carcinoma of Mouth \|\| Squamous Cell Carcinoma of Oral Cavity \|\| Squamous Cell Carcinoma of the Mouth \|\| Squamous Cell Carcinoma of the Oral Cavity	A squamous cell carcinoma arising from the oral cavity. It affects predominantly adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with signs and symptoms of locally advanced disease including mucosal ulceration, pain, difficulty with speaking, chewing, and swallowing, bleeding, weight loss, and neck swelling. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.
C165258	Cellosaurus Disease Terminology	C129863	Oral Epithelial Dysplasia	Oral Epithelial Dysplasia	Oral Dysplasia	A morphologic finding of dysplastic epithelial cells in the oral cavity.
C165258	Cellosaurus Disease Terminology	C3187	Oral Leukoplakia	Oral Leukoplakia	Leukokeratosis of Oral Mucosa \|\| Leukoplakia of Oral Mucosa \|\| Leukoplakia of the Oral Mucosa \|\| Oral Keratoses \|\| Oral Keratosis	A white patch or plaque on the oral mucosa that cannot be characterized clinically or pathologically as any other disease. The diagnosis of leukoplakia is one of exclusion; other conditions such as candidiasis, lichen planus, leukoedema, etc., must be ruled out before a diagnosis of leukoplakia can be made. Leukoplakia may be a premalignant condition.
C165258	Cellosaurus Disease Terminology	C4678	Organoid Nevus	Organoid Nevus	Linear Sebaceous Nevus \|\| Nevus Sebaceous of Jadassohn	A hamartomatous skin lesion containing sebaceous glands. It is usually located in the scalp.
C165258	Cellosaurus Disease Terminology	C84957	Ornithine Carbamoyltransferase Deficiency Disease	Ornithine Carbamoyltransferase Deficiency Disease	Ornithine Transcarbamylase Deficiency	An X-linked urea cycle metabolic disorder characterized by deficiency of ornithine carbamoyltransferase, resulting in the accumulation of amino acids and ammonia in the serum. Signs and symptoms include seizures, delayed growth, behavioral changes, ataxia, lethargy, and coma.
C165258	Cellosaurus Disease Terminology	C124838	Orofacial Cleft 1	Orofacial Cleft 1		Cleft lip with or without cleft palate mapped to chromosome 6p24.
C165258	Cellosaurus Disease Terminology	C124841	Orofaciodigital Syndrome Type 6	Orofaciodigital Syndrome Type 6	Varadi-Papp Syndrome	A rare, autosomal recessive syndrome characterized by orofacial anomalies, metacarpal abnormalities with central polydactyly, and cerebellar dysgenesis.
C165258	Cellosaurus Disease Terminology	C8181	Oropharyngeal Squamous Cell Carcinoma	Oropharyngeal Squamous Cell Carcinoma	Epidermoid Carcinoma of Oropharynx \|\| Epidermoid Carcinoma of the Oropharynx \|\| Oropharyngeal Epidermoid Carcinoma \|\| Squamous Cell Carcinoma of Oropharynx \|\| Squamous Cell Carcinoma of the Oropharynx	A squamous cell carcinoma arising from the oropharynx. It predominantly affects adults in their fifth and sixth decades of life and is associated with alcohol and tobacco use. Human papillomavirus is present in approximately half of the cases. It is characterized by a tendency to metastasize early to the lymph nodes. When the tumor is small, patients are often asymptomatic. Physical examination may reveal erythematous or white lesions or plaques. The majority of patients present with locally advanced disease. Signs and symptoms include mucosal ulceration, pain, bleeding, weight loss, neck swelling, and difficulty speaking, chewing, and swallowing. Patients may also present with swollen neck lymph nodes without any symptoms from the oropharyngeal tumor. The most significant prognostic factors are the size of the tumor and the lymph nodes status.
C165258	Cellosaurus Disease Terminology	C202118	Ossification of Anterior Longitudinal Ligament	Ossification of Anterior Longitudinal Ligament		A disorder characterized by benign depositions of calcium in the anterior longitudinal ligament. This condition is usually asymptomatic, but may be associated with dyspnea, dysphagia, spinal cord compression, and peripheral nerve entrapment.
C165258	Cellosaurus Disease Terminology	C84975	Ossification of Posterior Longitudinal Ligament	Ossification of Posterior Longitudinal Ligament		A disorder characterized by benign depositions of calcium in the posterior longitudinal ligament. Signs and symptoms result from the compression of nerve roots and include motor and sensory disturbances in the lower and upper extremities, and pain in the neck and arms.
C165258	Cellosaurus Disease Terminology	C202071	Ossification of the Ligamentum Flavum	Ossification of the Ligamentum Flavum	Ossification of the Yellow Ligament	A condition in which the ligamentum flavum is progressively ossified which may cause compression of elements inside the spinal canal, resulting in various neurological symptoms.
C165258	Cellosaurus Disease Terminology	C3293	Osteoarthritis	Osteoarthritis		A noninflammatory degenerative joint disease occurring chiefly in older persons, characterised by degeneration of the articular cartilage, hypertrophy of bone at the margins and changes in the synovial membrane. It is accompanied by pain and stiffness, particularly after prolonged activity.
C165258	Cellosaurus Disease Terminology	C202115	Osteoarthritis with Mild Chondrodysplasia	Osteoarthritis with Mild Chondrodysplasia		An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by osteoarthritis and mild chondrodysplasia.
C165258	Cellosaurus Disease Terminology	C3294	Osteoblastoma	Osteoblastoma	Giant Osteoid Osteoma \|\| Ossifying Giant Cell Tumor	A rare benign bone-forming neoplasm usually arising from the spine. It is a well-circumscribed lytic tumor that varies in size. The tumor is composed of woven bone trabeculae and shares similar histologic characteristics with the osteoid osteoma. Surgical curettage is the treatment of choice. The prognosis is excellent.
C165258	Cellosaurus Disease Terminology	C84978	Osteochondrodysplasia	Osteochondrodysplasia		A term referring to disorders characterized by abnormalities in the development of bones and cartilage.
C165258	Cellosaurus Disease Terminology	C22964	Osteochondroma of the Mouse Skeletal System	Osteochondroma of the Mouse Skeletal System
C165258	Cellosaurus Disease Terminology	C26837	Osteogenesis Imperfecta	Osteogenesis Imperfecta		A group of usually autosomal dominant inherited disorders characterized by defective synthesis of collagen type I resulting in defective collagen formation. It is characterized by brittle and easily fractured bones.
C165258	Cellosaurus Disease Terminology	C99003	Osteogenesis Imperfecta Type I	Osteogenesis Imperfecta Type I		The mildest and most common type of osteogenesis imperfecta. It is characterized by bone fractures, muscle weakness, and loose joints. Bone deformities are either absent or minimal.
C165258	Cellosaurus Disease Terminology	C99001	Osteogenesis Imperfecta Type II	Osteogenesis Imperfecta Type II		A severe form of osteogenesis imperfecta. It is characterized by bone deformities, multiple fractures, underdeveloped lungs, and often death during or after birth due to respiratory abnormalities.
C165258	Cellosaurus Disease Terminology	C99002	Osteogenesis Imperfecta Type III	Osteogenesis Imperfecta Type III		A type of osteogenesis imperfecta characterized by bone fractures, bone deformities, short stature, poor muscle development, barrel-shaped chest, and triangular face.
C165258	Cellosaurus Disease Terminology	C98576	Osteogenesis Imperfecta Type IV	Osteogenesis Imperfecta Type IV		A type of osteogenesis imperfecta that is characterized by fractures and hearing loss. It is more severe than type I and less severe than types II and III.
C165258	Cellosaurus Disease Terminology	C164153	Osteogenesis Imperfecta Type XIX	Osteogenesis Imperfecta Type XIX	Osteogenesis Imperfecta 19	An X-linked recessive sub-type of osteogenesis imperfecta caused by mutation(s) in the MBTPS2 gene, encoding membrane-bound transcription factor site-2 protease. It is characterized by prenatal fractures and osteopenia, with severe short stature in adulthood. Variable dysmorphic features may occur including scoliosis, pectal deformity, and anterior angulation of the tibia.
C165258	Cellosaurus Disease Terminology	C3297	Osteoid Osteoma	Osteoid Osteoma		A small, benign bone-forming neoplasm that can arise from any bone but more frequently affects the long bones. The central portion of the neoplasm (nidus) contains differentiated osteoblasts that produce osteoid and sometimes bone. The lesion is usually surrounded by hypervascular sclerotic bone and has limited growth potential. Clinical signs and symptoms include pain and localized tenderness, at the site of the lesion. The pain may be intense but in the majority of cases it is completely alleviated by non-steroidal anti-inflammatory drugs. Prognosis is excellent and recurrences are rare.
C165258	Cellosaurus Disease Terminology	C26838	Osteomalacia	Osteomalacia		A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003
C165258	Cellosaurus Disease Terminology	C201597	Osteootohepatoenteric Syndrome	Osteootohepatoenteric Syndrome		An exceedingly rare autosomal recessive condition caused by mutation (s) in the UNC45A gene, encoding protein unc-45 homolog A. It is characterized neonatal cholestasis, deafness, and bone fragility.
C165258	Cellosaurus Disease Terminology	C118438	Osteopetrosis with Renal Tubular Acidosis	Osteopetrosis with Renal Tubular Acidosis	Autosomal Recessive Osteopetrosis 3 \|\| Autosomal Recessive Osteopetrosis, Type 3 \|\| Carbonic Anhydrase II Deficiency \|\| Guibaud-Vainsel Syndrome \|\| Marble Brain Disease \|\| OPTB3	A rare, autosomal recessive inherited disorder caused by mutation in the CA2 gene. It is characterized by osteopetrosis, renal tubular acidosis, and cerebral calcifications. It results in growth failure, mental retardation, and fractures.
C165258	Cellosaurus Disease Terminology	C9145	Osteosarcoma	Osteosarcoma	Osteogenic Sarcoma	A usually aggressive malignant bone-forming mesenchymal neoplasm, predominantly affecting adolescents and young adults. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). Pain with or without a palpable mass is the most frequent clinical symptom. It may spread to other anatomic sites, particularly the lungs.
C165258	Cellosaurus Disease Terminology	C118845	Otopalatodigital Syndrome Type 1	Otopalatodigital Syndrome Type 1		A rare, X-linked dominant inherited syndrome caused by mutations in the FLNA gene. It is characterized by hearing loss caused by malformations in the ossicles, cleft palate, wide-set eyes, prominent brow ridges, small and flat nose, and skeletal abnormalities in the fingers and toes. Males usually experience more severe symptoms than females.
C165258	Cellosaurus Disease Terminology	C185242	Otosclerosis	Otosclerosis	Localized Bone Dysplasia	A usually autosomal dominant inherited metabolic disorder affecting the bony labyrinth of the inner ear. Morphologically, it is characterized by the presence of sharply demarcated active (otospongiotic) and inactive (sclerotic) bony areas. It is one of the most common causes of conductive hearing loss.
C165258	Cellosaurus Disease Terminology	C7700	Ovarian Adenocarcinoma	Ovarian Adenocarcinoma	Adenocarcinoma of Ovary \|\| Adenocarcinoma of the Ovary	An adenocarcinoma that arises from the ovary. It is the most common type of ovarian carcinoma. It includes the serous adenocarcinoma, mucinous adenocarcinoma, clear cell adenocarcinoma, and endometrioid adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C4908	Ovarian Carcinoma	Ovarian Carcinoma	Carcinoma of Ovary \|\| Carcinoma of the Ovary	A malignant neoplasm originating from the surface ovarian epithelium. It accounts for the greatest number of deaths from malignancies of the female genital tract and is the fifth leading cause of cancer fatalities in women. It is predominantly a disease of older white women of northern European extraction, but it is seen in all ages and ethnic groups. Adenocarcinomas constitute the vast majority of ovarian carcinomas. The pattern of metastatic spread in ovarian carcinoma is similar regardless of the microscopic type. The most common sites of involvement are the contralateral ovary, peritoneal cavity, para-aortic and pelvic lymph nodes, and liver. Lung and pleura are the most common sites of extra-abdominal spread. The primary form of therapy is surgical. The overall prognosis of ovarian carcinoma remains poor, a direct result of its rapid growth rate and the lack of early symptoms.
C165258	Cellosaurus Disease Terminology	C9192	Ovarian Carcinosarcoma	Ovarian Carcinosarcoma	Carcinosarcoma of Ovary \|\| Carcinosarcoma of the Ovary \|\| Malignant Mixed Mesodermal Mullerian Neoplasm of Ovary \|\| Malignant Mixed Mesodermal Mullerian Neoplasm of the Ovary \|\| Malignant Mixed Mesodermal Mullerian Tumor of Ovary \|\| Malignant Mixed Mesodermal Mullerian Tumor of the Ovary \|\| Malignant Mixed Mesodermal M�llerian Neoplasm of Ovary \|\| Malignant Mixed Mesodermal M�llerian Neoplasm of the Ovary \|\| Malignant Mixed Mesodermal M�llerian Tumor of Ovary \|\| Malignant Mixed Mesodermal M�llerian Tumor of the Ovary \|\| Ovarian Malignant Mesodermal (Mullerian) Mixed Tumor \|\| Ovarian Malignant Mesodermal (M�llerian) Mixed Tumor \|\| Ovarian Malignant Mixed Mesodermal (Mullerian) Tumor \|\| Ovarian Malignant Mixed Mesodermal (M�llerian) Tumor \|\| Ovarian Malignant Mixed Mesodermal Mullerian Neoplasm \|\| Ovarian Malignant Mixed Mesodermal Mullerian Tumor \|\| Ovarian Malignant Mixed Mesodermal M�llerian Neoplasm \|\| Ovarian Malignant Mixed Mesodermal M�llerian Tumor \|\| Ovarian Malignant Mixed Mullerian Neoplasm \|\| Ovarian Malignant Mixed Mullerian Tumor \|\| Ovarian Malignant Mixed M�llerian Neoplasm \|\| Ovarian Malignant Mixed M�llerian Tumor	A highly aggressive malignant neoplasm arising from the ovary. Morphologically, it is a high grade tumor, composed of carcinomatous and sarcomatous elements.
C165258	Cellosaurus Disease Terminology	C40078	Ovarian Clear Cell Adenocarcinoma	Ovarian Clear Cell Adenocarcinoma		A malignant glandular epithelial neoplasm characterized by the presence of clear and hobnail cells. It is highly associated with ovarian endometriosis, pelvic endometriosis and paraendocrine hypercalcemia.
C165258	Cellosaurus Disease Terminology	C5228	Ovarian Cystadenocarcinoma	Ovarian Cystadenocarcinoma	Cystadenocarcinoma of Ovary \|\| Cystadenocarcinoma of the Ovary	An adenocarcinoma that arises from the ovary and is characterized by the presence of cystic structures. It includes the serous cystadenocarcinoma, mucinous cystadenocarcinoma, and clear cell cystadenocarcinoma.
C165258	Cellosaurus Disease Terminology	C3856	Ovarian Dermoid Cyst	Ovarian Dermoid Cyst	Dermoid Cyst of Ovary \|\| Dermoid Cyst of the Ovary	A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral.
C165258	Cellosaurus Disease Terminology	C177774	Ovarian Dermoid Cyst with Somatic-Type Malignancy	Ovarian Dermoid Cyst with Somatic-Type Malignancy	Ovarian Teratoma with Malignant Transformation	An ovarian dermoid cyst associated with a distinct secondary component that resembles a somatic-type malignant neoplasm (e.g., carcinoma or sarcoma).
C165258	Cellosaurus Disease Terminology	C8106	Ovarian Dysgerminoma	Ovarian Dysgerminoma	Dysgerminoma of Ovary \|\| Dysgerminoma of the Ovary \|\| Germ Cell Dysgerminoma of Ovary \|\| Germ Cell Dysgerminoma of the Ovary \|\| Ovarian Germ Cell Dysgerminoma	A malignant germ cell tumor arising from the ovary. Morphologically, it is identical to seminoma and consists of a monotonous population of germ cells with abundant pale cytoplasm and uniform nuclei. The stroma invariably contains chronic inflammatory cells, mostly T-lymphocytes. It responds to chemotherapy or radiotherapy and the prognosis relates to the tumor stage.
C165258	Cellosaurus Disease Terminology	C7979	Ovarian Endometrioid Adenocarcinoma	Ovarian Endometrioid Adenocarcinoma	Endometrioid Adenocarcinoma of Ovary \|\| Endometrioid Adenocarcinoma of the Ovary \|\| Endometrioid Cancer of Ovary \|\| Endometrioid Cancer of the Ovary \|\| Endometrioid Carcinoma of Ovary \|\| Endometrioid Carcinoma of the Ovary \|\| Ovarian Endometrioid Cancer \|\| Ovarian Endometrioid Carcinoma	An endometrioid adenocarcinoma arising from the ovary. It comprises 10% to 25% of all primary ovarian carcinomas. Grossly, endometrioid carcinoma may present as a cystic or solid mass. Microscopically, the tumor greatly resembles the appearance of the ordinary type of endometrial adenocarcinoma. As a group, endometrioid carcinoma has a prognosis twice as good as that of serous or mucinous carcinoma.
C165258	Cellosaurus Disease Terminology	C4069	Ovarian Endometriotic Cyst	Ovarian Endometriotic Cyst	Endometrioma of Ovary \|\| Endometrioma of the Ovary \|\| Endometriotic Cyst of Ovary \|\| Endometriotic Cyst of the Ovary \|\| Ovarian Endometrioma	A cystic form of endometriosis affecting the ovary. It may or may not be associated with endometriosis in other areas in the pelvis.
C165258	Cellosaurus Disease Terminology	C5233	Ovarian Fibrosarcoma	Ovarian Fibrosarcoma	Fibrosarcoma of Ovary \|\| Fibrosarcoma of the Ovary	A usually aggressive malignant neoplasm arising from the ovary. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
C165258	Cellosaurus Disease Terminology	C6261	Ovarian Granulosa Cell Tumor	Ovarian Granulosa Cell Tumor	Granulosa Cell Neoplasm of Ovary \|\| Granulosa Cell Neoplasm of the Ovary \|\| Granulosa Cell Tumor of Ovary \|\| Granulosa Cell Tumor of the Ovary \|\| Ovarian Granulosa Cell Neoplasm	A granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis.
C165258	Cellosaurus Disease Terminology	C5234	Ovarian Leiomyosarcoma	Ovarian Leiomyosarcoma	Leiomyosarcoma of Ovary \|\| Leiomyosarcoma of the Ovary	An aggressive malignant smooth muscle neoplasm, arising from the ovary. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C8114	Ovarian Mixed Germ Cell Tumor	Ovarian Mixed Germ Cell Tumor	Mixed Germ Cell Neoplasm of Ovary \|\| Mixed Germ Cell Neoplasm of the Ovary \|\| Mixed Germ Cell Tumor of Ovary \|\| Mixed Germ Cell Tumor of the Ovary \|\| Ovarian Mixed Germ Cell Neoplasm	An ovarian malignant germ cell tumor characterized by the presence of at least two different germ cell tumor components. The most common combination of germ cell tumors is dysgerminoma and yolk sac tumor.
C165258	Cellosaurus Disease Terminology	C5243	Ovarian Mucinous Adenocarcinoma	Ovarian Mucinous Adenocarcinoma	Mucinous Adenocarcinoma of Ovary \|\| Mucinous Adenocarcinoma of the Ovary \|\| Mucinous Carcinoma of Ovary \|\| Mucinous Carcinoma of the Ovary \|\| Ovarian Mucinous Carcinoma	An invasive adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that contain intracytoplasmic mucin. There is cellular atypia, increased layering of cells, complexity of glands, and papillary formations.
C165258	Cellosaurus Disease Terminology	C4026	Ovarian Mucinous Cystadenocarcinoma	Ovarian Mucinous Cystadenocarcinoma	Mucinous Cystadenocarcinoma of Ovary \|\| Mucinous Cystadenocarcinoma of the Ovary	An invasive cystic adenocarcinoma arising from the ovary. It is characterized by the presence of malignant glandular epithelial cells which contain intracytoplasmic mucin. The malignant cells invade the ovarian stroma and the cystic spaces contain mucoid material. In a minority of cases both ovaries are involved by the tumor. The prognosis for stage I tumors is excellent. Patients with metastases usually have a poor prognosis.
C165258	Cellosaurus Disease Terminology	C4512	Ovarian Mucinous Cystadenoma	Ovarian Mucinous Cystadenoma	Benign Mucinous Cystadenoma of Ovary \|\| Benign Mucinous Cystadenoma of the Ovary \|\| Benign Ovarian Mucinous Cystadenoma \|\| Mucinous Cystadenoma of Ovary \|\| Mucinous Cystadenoma of the Ovary	A benign neoplasm of the ovary characterized by the presence of cystic structures lined by mucinous columnar epithelial cells.
C165258	Cellosaurus Disease Terminology	C7278	Ovarian Papillary Cystadenoma	Ovarian Papillary Cystadenoma		A serous cystadenoma of the ovary characterized by the presence of small papillary projections in the inner surface of the cysts.
C165258	Cellosaurus Disease Terminology	C7550	Ovarian Serous Adenocarcinoma	Ovarian Serous Adenocarcinoma	Ovarian Serous Carcinoma \|\| Serous Adenocarcinoma of Ovary \|\| Serous Adenocarcinoma of the Ovary \|\| Serous Carcinoma of Ovary \|\| Serous Carcinoma of the Ovary	An adenocarcinoma that arises from the ovary and is characterized by the presence of malignant epithelial cells that, in well differentiated tumors, resemble the epithelium of the fallopian tube or, in poorly differentiated tumors, show anaplastic features and marked nuclear atypia.
C165258	Cellosaurus Disease Terminology	C7978	Ovarian Serous Cystadenocarcinoma	Ovarian Serous Cystadenocarcinoma		A malignant serous cystic epithelial neoplasm arising from the ovary. It is characterized by the presence of glandular, papillary, or solid structures. Psammoma bodies may be present. In well differentiated cases the malignant epithelial cells resemble the cells of fallopian tube epithelium. In poorly differentiated cases the malignant epithelial cells show anaplastic features.
C165258	Cellosaurus Disease Terminology	C40032	Ovarian Serous Cystadenofibroma	Ovarian Serous Cystadenofibroma		A benign neoplasm of the ovary characterized by the presence of cystic structures lined by serous epithelial cells in a fibrotic stroma.
C165258	Cellosaurus Disease Terminology	C4511	Ovarian Serous Cystadenoma	Ovarian Serous Cystadenoma	Benign Ovarian Serous Cystadenoma \|\| Benign Serous Cystadenoma of Ovary \|\| Benign Serous Cystadenoma of the Ovary \|\| Serous Cystadenoma of Ovary \|\| Serous Cystadenoma of the Ovary	A benign, usually bilateral neoplasm of the ovary characterized by the presence of cystic structures that contain watery fluid and are lined by serous epithelial cells. Signs and symptoms include abdominal enlargement, pain, and vaginal bleeding.
C165258	Cellosaurus Disease Terminology	C6256	Ovarian Serous Surface Papillary Adenocarcinoma	Ovarian Serous Surface Papillary Adenocarcinoma	Serous Surface Papillary Carcinoma of Ovary \|\| Serous Surface Papillary Carcinoma of the Ovary	A serous adenocarcinoma that arises from the ovary and is characterized by the presence of a papillary architectural pattern.
C165258	Cellosaurus Disease Terminology	C27390	Ovarian Small Cell Carcinoma	Ovarian Small Cell Carcinoma		A carcinoma that arises from the ovary and is characterized by the presence of small malignant cells. It includes small cell carcinoma, hypercalcemic type and small cell carcinoma, pulmonary type.
C165258	Cellosaurus Disease Terminology	C40439	Ovarian Small Cell Carcinoma, Hypercalcemic Type	Ovarian Small Cell Carcinoma, Hypercalcemic Type		An undifferentiated small cell carcinoma that arises from the ovary and is associated with hypercalcemia. Electron microscopic studies show neurosecretory granules are either absent or, when present, are in small numbers.
C165258	Cellosaurus Disease Terminology	C40093	Ovarian Squamous Cell Carcinoma	Ovarian Squamous Cell Carcinoma		A usually high grade squamous cell carcinoma that arises from the ovary and is not associated with a germ cell tumor. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C8110	Ovarian Teratoma	Ovarian Teratoma	Germ Cell Teratoma of Ovary \|\| Germ Cell Teratoma of the Ovary \|\| Ovarian Germ Cell Teratoma \|\| Teratoma of Ovary \|\| Teratoma of the Ovary	A benign, immature, or malignant teratoma arising from the ovary.
C165258	Cellosaurus Disease Terminology	C4509	Ovarian Undifferentiated Carcinoma	Ovarian Undifferentiated Carcinoma	Anaplastic Carcinoma of Ovary \|\| Anaplastic Carcinoma of the Ovary \|\| Anaplastic Ovarian Carcinoma \|\| Undifferentiated Carcinoma of Ovary \|\| Undifferentiated Carcinoma of the Ovary \|\| Undifferentiated Ovarian Carcinoma	An aggressive carcinoma arising from the ovary. Most patients present with advanced disease. Microscopically, it is characterized by significant cytologic atypia, increased mitotic activity, and necrosis. The prognosis is usually poor.
C165258	Cellosaurus Disease Terminology	C8107	Ovarian Yolk Sac Tumor	Ovarian Yolk Sac Tumor	Endodermal Sinus Neoplasm of Ovary \|\| Endodermal Sinus Neoplasm of the Ovary \|\| Endodermal Sinus Tumor of Ovary \|\| Endodermal Sinus Tumor of the Ovary \|\| Germ Cell Endodermal Sinus Neoplasm of Ovary \|\| Germ Cell Endodermal Sinus Neoplasm of the Ovary \|\| Germ Cell Endodermal Sinus Tumor of Ovary \|\| Germ Cell Endodermal Sinus Tumor of the Ovary \|\| Ovarian Endodermal Sinus Neoplasm \|\| Ovarian Endodermal Sinus Tumor \|\| Ovarian Germ Cell Endodermal Sinus Neoplasm \|\| Ovarian Germ Cell Endodermal Sinus Tumor \|\| Ovarian Yolk Sac Neoplasm \|\| Yolk Sac Neoplasm of Ovary \|\| Yolk Sac Neoplasm of the Ovary \|\| Yolk Sac Tumor of Ovary \|\| Yolk Sac Tumor of the Ovary	A usually rapidly growing malignant germ cell tumor arising from the ovary. It usually occurs in children and adolescents. Signs and symptoms include abdominal pain and a large abdominal or pelvic mass. The serum alpha-fetoprotein is almost always elevated preoperatively. Morphologically, there is marked heterogeneity due to numerous patterns of differentiation coexisting in the same tumor. The most common pattern is reticular.
C165258	Cellosaurus Disease Terminology	C134781	Ovine Sinus Tumor	Ovine Sinus Tumor		A neoplasm that occurs in the sinus of a sheep.
C165258	Cellosaurus Disease Terminology	C7073	Paget Disease	Paget Disease	Paget Cell Neoplasm \|\| Paget's Cell Neoplasm \|\| Paget's Disease	A malignant neoplasm composed of large cells with large nuclei, prominent nucleoli, and abundant pale cytoplasm (Paget cells). Paget cell neoplasms include Paget disease of the nipple and extramammary Paget disease which may affect the vulva, penis, anus, skin and scrotum.
C165258	Cellosaurus Disease Terminology	C75458	Pallister-Killian Syndrome	Pallister-Killian Syndrome		A very rare chromosomal disorder caused by tetrasomy of chromosome 12p. It is characterized by severe mental retardation, prominent forehead, sparse temporofrontal hair, hypertelorism, short nose, and streaks of hypopigmented skin.
C165258	Cellosaurus Disease Terminology	C7977	Pancreatic Acinar Cell Carcinoma	Pancreatic Acinar Cell Carcinoma	Acinar Cell Adenocarcinoma of Pancreas \|\| Acinar Cell Adenocarcinoma of the Pancreas \|\| Acinar Cell Carcinoma of Pancreas \|\| Acinar Cell Carcinoma of the Pancreas \|\| Pancreas Acinar Cell Adenocarcinoma \|\| Pancreatic Acinar Cell Adenocarcinoma	An adenocarcinoma arising from the pancreas. It is characterized by the presence of relatively uniform malignant cells which form acinar patterns. It usually occurs during adulthood. Signs and symptoms include abdominal pain, weight loss, nausea, and diarrhea. It may metastasize to regional lymph nodes and the liver. A minority of patients develop lipase hypersecretion syndrome. This syndrome may be seen in patients with liver metastases and it is characterized by excessive secretion of lipase in the serum, polyarthralgia, and subcutaneous fat necrosis.
C165258	Cellosaurus Disease Terminology	C8294	Pancreatic Adenocarcinoma	Pancreatic Adenocarcinoma	Adenocarcinoma of Pancreas \|\| Adenocarcinoma of the Pancreas \|\| Pancreas Adenocarcinoma	An adenocarcinoma which arises from the exocrine pancreas. Ductal adenocarcinoma and its variants are the most common types of pancreatic adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C5721	Pancreatic Adenosquamous Carcinoma	Pancreatic Adenosquamous Carcinoma	Adenosquamous Carcinoma of Pancreas \|\| Adenosquamous Carcinoma of the Pancreas \|\| Pancreatic Adenoacanthoma \|\| Pancreatic Mixed Squamous and Adenocarcinoma \|\| Pancreatic Mucoepidermoid Carcinoma	A carcinoma that arises from the pancreas showing both ductal and squamous differentiation. The squamous component should represent at least 30% of the malignant cellular infiltrate. The prognosis is usually worse than that of ductal adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C207229	Pancreatic Carcinoma	Pancreatic Carcinoma	Cancer of Pancreas \|\| Cancer of the Pancreas \|\| Carcinoma of Pancreas \|\| Carcinoma of the Pancreas \|\| Pancreatic Cancer	A carcinoma that arises from the exocrine or endocrine pancreas. The vast majority of pancreatic carcinomas arise from the exocrine pancreas and are almost always adenocarcinomas. The main subtype of pancreatic adenocarcinoma is ductal adenocarcinoma, which is the most frequently seen type of pancreatic carcinoma. The carcinomas that arise from the endocrine pancreas (islet cells) are neuroendocrine carcinomas (small cell and large cell neuroendocrine carcinomas).
C165258	Cellosaurus Disease Terminology	C9120	Pancreatic Ductal Adenocarcinoma	Pancreatic Ductal Adenocarcinoma	Ductal Adenocarcinoma of Pancreas \|\| Ductal Adenocarcinoma of the Pancreas \|\| Pancreas Ductal Adenocarcinoma \|\| Pancreatic Tubular Adenocarcinoma	An infiltrating adenocarcinoma that arises from the epithelial cells of the pancreas. It affects males more often than females and the patients are usually over 50 years of age. Microscopically it is characterized by the presence of glandular (ductal) differentiation and desmoplastic stroma formation. Signs and symptoms include pain, loss of weight, and jaundice. It grows rapidly and is usually detected after it has metastasized to other anatomic sites. The prognosis is usually poor.
C165258	Cellosaurus Disease Terminology	C95598	Pancreatic Insulinoma	Pancreatic Insulinoma	Insulinoma	An insulin-producing neuroendocrine tumor arising from the beta cells of the pancreas. Patients exhibit symptoms related to hypoglycemia due to inappropriate secretion of insulin.
C165258	Cellosaurus Disease Terminology	C38342	Pancreatic Intraductal Papillary-Mucinous Neoplasm	Pancreatic Intraductal Papillary-Mucinous Neoplasm	Pancreatic IPMN \|\| Pancreatic Intraductal Papillary-Mucinous Tumor	A usually slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. Grossly, it is characterized by the presence of intraductal masses. Morphologically, there is proliferation of mucin-producing cells within the pancreatic ducts, intraductal accumulation of mucin, and a papillary growth pattern. It may be associated with the presence of an invasive carcinoma. It usually occurs in older patients. Signs and symptoms include epigastric pain, weight loss, jaundice, chronic pancreatitis, and diabetes mellitus.
C165258	Cellosaurus Disease Terminology	C95506	Pancreatic Intraductal Tubulopapillary Neoplasm	Pancreatic Intraductal Tubulopapillary Neoplasm	Pancreatic ITPN \|\| Pancreatic Intraductal Tubular Neoplasm	An epithelial neoplasm that arises from the exocrine pancreas characterized by the formation of tubular structures, high grade dysplasia, and ductal differentiation. Grossly, it is characterized by the presence of intraductal nodular masses. Morphologically, there are nodules of tubular glands and occasional papillary structures growing in dilated ducts. There is no significant mucin production. Signs and symptoms include epigastric pain, weight loss, vomiting, steatorrhea, and diabetes mellitus.
C165258	Cellosaurus Disease Terminology	C95582	Pancreatic Large Cell Neuroendocrine Carcinoma	Pancreatic Large Cell Neuroendocrine Carcinoma	Pancreatic Large Cell NEC \|\| Pancreatic Large Cell NEC G3	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells.
C165258	Cellosaurus Disease Terminology	C129030	Pancreatic Lipase Deficiency	Pancreatic Lipase Deficiency		An autosomal recessive disorder caused by mutation(s) in the PNLIP gene, encoding pancreatic triacylglycerol lipase. The condition is characterized by absent or reduced pancreatic lipase.
C165258	Cellosaurus Disease Terminology	C45843	Pancreatic Mixed Adenoneuroendocrine Carcinoma	Pancreatic Mixed Adenoneuroendocrine Carcinoma	Mixed Exocrine-Endocrine Carcinoma of the Pancreas \|\| Pancreatic Carcinoma with Mixed Differentiation \|\| Pancreatic Mixed Neuroendocrine-Non-Neuroendocrine Carcinoma	A rare carcinoma with a poor prognosis, characterized by the presence of a mixture of exocrine and neuroendocrine malignant epithelial cells in both the pancreas and metastatic sites. Symptoms include jaundice, abdominal pain, and weight loss.
C165258	Cellosaurus Disease Terminology	C41247	Pancreatic Mucinous-Cystic Neoplasm	Pancreatic Mucinous-Cystic Neoplasm	Pancreatic Mucinous Cystic Neoplasm	A non-invasive or invasive cystic epithelial neoplasm that affects almost exclusively females. It is characterized by the presence of columnar mucin-producing epithelial cells and ovarian-type stroma formation.
C165258	Cellosaurus Disease Terminology	C27720	Pancreatic Neuroendocrine Tumor	Pancreatic Neuroendocrine Tumor	Islet Cell Tumor \|\| Pancreatic NET \|\| Pancreatic Well Differentiated Neuroendocrine Neoplasm \|\| Pancreatic Well-Differentiated Neuroendocrine Neoplasm \|\| Well Differentiated Pancreatic Endocrine Neoplasm \|\| Well Differentiated Pancreatic Neuroendocrine Neoplasm \|\| Well-Differentiated Pancreatic Endocrine Neoplasm \|\| Well-Differentiated Pancreatic Neuroendocrine Neoplasm	A well-differentiated, low-, intermediate-, or high-grade neoplasm with neuroendocrine differentiation that arises from the islet cells of the pancreas. According to the presence or absence of clinical syndromes that result from hormone hypersecretion, pancreatic neuroendocrine tumors are classified either as functional or nonfunctional.
C165258	Cellosaurus Disease Terminology	C45835	Pancreatic Neuroendocrine Tumor G2	Pancreatic Neuroendocrine Tumor G2	Pancreatic NET G2 \|\| Well Differentiated Pancreatic Endocrine Carcinoma \|\| Well Differentiated Pancreatic Neuroendocrine Carcinoma	A well-differentiated, intermediate-grade neuroendocrine neoplasm that arises from the pancreas. The mitotic count is 2-20 per 2 mm2 and/or the Ki-67 index is 3 to 20%.
C165258	Cellosaurus Disease Terminology	C172814	Pancreatic Neuroendocrine Tumor G3	Pancreatic Neuroendocrine Tumor G3		A well-differentiated, high-grade neuroendocrine neoplasm that arises from the pancreas. The mitotic count is more than 20 per 2 mm2 and/or the Ki-67 index is more than 20%.
C165258	Cellosaurus Disease Terminology	C4446	Pancreatic Serotonin-Producing Neuroendocrine Tumor	Pancreatic Serotonin-Producing Neuroendocrine Tumor	EC Cell, Serotonin Producing Pancreatic NET \|\| EC Cell, Serotonin Producing Pancreatic Neuroendocrine Tumor \|\| Enterochromaffin Cell Serotonin-Producing Pancreatic Neuroendocrine Tumor \|\| Pancreatic Serotonin Producing Neoplasm \|\| Pancreatic Serotonin Producing Tumor \|\| Serotonin-Producing Pancreatic Neuroendocrine Tumor \|\| Serotonin-Producing Tumor of Pancreas \|\| Serotonin-Producing Tumor of the Pancreas	A pancreatic neuroendocrine tumor that secretes serotonin. When it metastasizes to the liver or retroperitoneum, it produces the carcinoid syndrome. Most cases are graded G1 or G2.
C165258	Cellosaurus Disease Terminology	C95583	Pancreatic Small Cell Carcinoma	Pancreatic Small Cell Neuroendocrine Carcinoma	Pancreatic Small Cell Carcinoma \|\| Pancreatic Small Cell NEC \|\| Pancreatic Small Cell NEC G3	An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant small cells.
C165258	Cellosaurus Disease Terminology	C95595	Pancreatic Somatostatinoma	Pancreatic Somatostatinoma		A neuroendocrine tumor arising from the delta cells of the pancreas. It is characterized by inappropriate secretion of somatostatin and associated with diabetes mellitus, hypochlorhydria, gallbladder disease, diarrhea, steatorrhea, anemia, and weight loss.
C165258	Cellosaurus Disease Terminology	C5722	Pancreatic Undifferentiated Carcinoma	Pancreatic Undifferentiated Carcinoma	Pancreatic Carcinosarcoma \|\| Pleomorphic Large Cell Pancreatic Carcinoma \|\| Sarcomatoid Pancreatic Carcinoma \|\| Spindle Cell Pancreatic Carcinoma \|\| Undifferentiated (Anaplastic) Pancreatic Carcinoma \|\| Undifferentiated Carcinoma of Pancreas \|\| Undifferentiated Carcinoma of the Pancreas \|\| Undifferentiated Pancreatic Carcinoma	A carcinoma that arises from the pancreas and is characterized by the presence of malignant cells that do not show differentiation. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C4265	Pancreatoblastoma	Pancreatoblastoma		A rare malignant epithelial neoplasm arising from the pancreas. The vast majority of cases occur during childhood. It is characterized by acinar differentiation, the formation of squamoid corpuscles, and the formation of stromal bands. Patients may present with an abdominal mass. Symptoms include pain, weight loss, and diarrhea. It may metastasize to lymph nodes, liver, and distant anatomic sites. Children who do not have metastatic disease at the time of diagnosis usually have a favorable clinical outcome when treated with a combination of surgery and chemotherapy. However, children with metastatic disease at presentation or adult patients usually have a poor prognosis.
C165258	Cellosaurus Disease Terminology	C110940	Panhypopituitarism	Panhypopituitarism	Complete Hypopituitarism	Insufficient production of all the anterior pituitary hormones.
C165258	Cellosaurus Disease Terminology	C84988	Pantothenate Kinase-Associated Neurodegeneration	Pantothenate Kinase-Associated Neurodegeneration		A rare autosomal recessive inherited disorder caused by mutations in the PANK2 gene. It is characterized by abnormal accumulation of iron in the basal ganglia. Signs and symptoms include progressive motor disturbances, muscle spasm and rigidity, dysarthria, mental deterioration, and behavioral changes.
C165258	Cellosaurus Disease Terminology	C21763	Papillary Adenoma of the Mouse Pulmonary System	Papillary Adenoma of the Mouse Pulmonary System
C165258	Cellosaurus Disease Terminology	C4725	Papillary Craniopharyngioma	Papillary Craniopharyngioma	Papillary Neoplasm of Rathke's Pouch \|\| Papillary Rathke Pouch Neoplasm \|\| Papillary Rathke's Pouch Neoplasm \|\| Papillary Rathke's Pouch Tumor \|\| Papillary Tumor of Rathke's Pouch	A craniopharyngioma composed of sheets of squamous epithelium which separate to form pseudopapillae. This variant typically lacks nuclear palisading, wet keratin, calcification, and cholesterol deposits. Clinically, endocrine deficiencies are more often associated with papillary craniopharyngioma than with the adamantinomatous type. (Adapted from WHO)
C165258	Cellosaurus Disease Terminology	C6975	Papillary Renal Cell Carcinoma	Papillary Renal Cell Carcinoma	Papillary RCC	Also known as chromophil carcinoma, it represents a minority of renal cell carcinomas. It can be hereditary or sporadic. The sporadic papillary renal cell carcinoma is characterized by trisomy of chromosomes 7, 16, and 17, and loss of chromosome Y. The peak incidence is in the sixth and seven decades. It is classified as type 1 or 2, based on the cytoplasmic volume and the thickness of the lining neoplastic cells. The prognosis is more favorable than for conventional (clear cell) renal cell carcinoma.
C165258	Cellosaurus Disease Terminology	C21803	Papilloma of the Mouse Skin	Papilloma of the Mouse Skin
C165258	Cellosaurus Disease Terminology	C156757	Parathyroid Gland Adenoma	Parathyroid Gland Adenoma		A benign ovoid parathyroid gland neoplasm surrounded by a pseudocapsule. It is composed of chief cells, clear cells, oncocytic cells, or a mixture of cell types. It lacks the morphological characteristics of parathyroid gland carcinoma and there is no evidence of capsular invasion, vascular invasion, and perineural invasion.
C165258	Cellosaurus Disease Terminology	C4906	Parathyroid Gland Carcinoma	Parathyroid Gland Carcinoma	Adenocarcinoma of Parathyroid \|\| Adenocarcinoma of Parathyroid Gland \|\| Adenocarcinoma of the Parathyroid \|\| Adenocarcinoma of the Parathyroid Gland \|\| Cancer of Parathyroid Gland \|\| Cancer of the Parathyroid Gland \|\| Carcinoma of Parathyroid \|\| Carcinoma of Parathyroid Gland \|\| Carcinoma of the Parathyroid \|\| Carcinoma of the Parathyroid Gland \|\| Parathyroid Adenocarcinoma \|\| Parathyroid Cancer \|\| Parathyroid Carcinoma \|\| Parathyroid Gland Adenocarcinoma \|\| Parathyroid Gland Cancer	A malignant tumor arising from the parenchymal cells of the parathyroid gland. It is associated with the symptoms of primary hyperparathyroidism, resulting from the excessive production of parathyroid hormone. Morphologically, the differential diagnosis from parathyroid gland adenoma may be difficult. A definitive diagnosis of carcinoma is made only in the presence of capsular invasion, vascular invasion, and/or perineural invasion.
C165258	Cellosaurus Disease Terminology	C26845	Parkinson Disease	Parkinson Disease	Parkinson's Disease	A progressive degenerative disorder of the central nervous system characterized by loss of dopamine producing neurons in the substantia nigra and the presence of Lewy bodies in the substantia nigra and locus coeruleus. Signs and symptoms include tremor which is most pronounced during rest, muscle rigidity, slowing of the voluntary movements, a tendency to fall back, and a mask-like facial expression.
C165258	Cellosaurus Disease Terminology	C198602	Parkinson Disease 1, Autosomal Dominant	Parkinson Disease 1, Autosomal Dominant		An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK4 and Lewy body dementia, and have overlapping phenotypes.
C165258	Cellosaurus Disease Terminology	C201519	Parkinson Disease 14, Autosomal Recessive	Parkinson Disease 14, Autosomal Recessive		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PLA2G6 gene, encoding 85/88 kDa calcium-independent phospholipase A2.
C165258	Cellosaurus Disease Terminology	C198607	Parkinson Disease 15, Autosomal Recessive Early-Onset	Parkinson Disease 15, Autosomal Recessive Early-Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the FBXO7 gene, encoding F-box only protein 7.
C165258	Cellosaurus Disease Terminology	C201520	Parkinson Disease 17	Parkinson Disease 17		An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the VPS35 gene, encoding vacuolar protein sorting-associated protein 35.
C165258	Cellosaurus Disease Terminology	C198608	Parkinson Disease 19A, Juvenile-Onset	Parkinson Disease 19A, Juvenile-Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the DNAJC6 gene, encoding putative tyrosine-protein phosphatase auxilin. It is characterized by an onset of Parkinsonism in the first or second decade. Mutations(s) in DNAJC6, are also causative in PARK19B.
C165258	Cellosaurus Disease Terminology	C198609	Parkinson Disease 19B, Early-Onset	Parkinson Disease 19B, Early-Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the DNAJC6 gene, encoding putative tyrosine-protein phosphatase auxilin. It is characterized by an onset of Parkinsonism between the third and fifth decades. Mutations(s) in DNAJC6, are also causative in PARK19A.
C165258	Cellosaurus Disease Terminology	C198603	Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinson Disease 2, Autosomal Recessive Juvenile		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PRKN gene, encoding E3 ubiquitin-protein ligase parkin.
C165258	Cellosaurus Disease Terminology	C203535	Parkinson Disease 20, Early-Onset	Parkinson Disease 20, Early-Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the SYNJ1 gene, encoding synaptojanin-1.
C165258	Cellosaurus Disease Terminology	C205643	Parkinson Disease 22, Autosomal Dominant	Parkinson Disease 22, Autosomal Dominant		An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the CHCHD2 gene, encoding coiled-coil-helix-coiled-coil-helix domain-containing protein 2.
C165258	Cellosaurus Disease Terminology	C203536	Parkinson Disease 23, Autosomal Recessive, Early Onset	Parkinson Disease 23, Autosomal Recessive, Early Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the VPS13C gene, encoding intermembrane lipid transfer protein VPS13C.
C165258	Cellosaurus Disease Terminology	C198604	Parkinson Disease 4, Autosomal Dominant	Parkinson Disease 4, Autosomal Dominant		An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the SNCA gene, encoding alpha-synuclein. Mutation(s) in the SNCA gene are responsible for PARK1 and Lewy body dementia, and have overlapping phenotypes.
C165258	Cellosaurus Disease Terminology	C184990	Parkinson Disease 6, Early Onset	Parkinson Disease 6, Early Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PINK1 gene, encoding serine/threonine-protein kinase PINK1, mitochondrial.
C165258	Cellosaurus Disease Terminology	C198606	Parkinson Disease 7, Autosomal Recessive Early-Onset	Parkinson Disease 7, Autosomal Recessive Early-Onset		An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the PARK7 gene, encoding Parkinson disease protein 7.
C165258	Cellosaurus Disease Terminology	C198605	Parkinson Disease 8, Autosomal Dominant	Parkinson Disease 8, Autosomal Dominant		An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the LRRK2 gene, encoding leucine-rich repeat serine/threonine-protein kinase 2.
C165258	Cellosaurus Disease Terminology	C203534	Parkinson Disease 9	Parkinson Disease 9	Kufor-Rakeb Syndrome	An autosomal recessive subtype of Parkinson disease, caused by mutation(s) in the ATP13A2 gene, encoding polyamine-transporting ATPase 13A2.
C165258	Cellosaurus Disease Terminology	C201521	Parkinsonism with Polyneuropathy	Parkinsonism with Polyneuropathy		An autosomal dominant subtype of Parkinson disease, caused by mutation(s) in the UQCRC1 gene, encoding cytochrome b-c1 complex subunit 1, mitochondrial.
C165258	Cellosaurus Disease Terminology	C5941	Parotid Gland Adenocarcinoma	Parotid Gland Adenocarcinoma	Adenocarcinoma of Parotid \|\| Adenocarcinoma of Parotid Gland \|\| Adenocarcinoma of the Parotid \|\| Adenocarcinoma of the Parotid Gland \|\| Parotid Adenocarcinoma	An adenocarcinoma that arises from the parotid gland. Representative examples include acinic cell carcinoma, basal cell adenocarcinoma, cystadenocarcinoma, and oncocytic carcinoma.
C165258	Cellosaurus Disease Terminology	C5938	Parotid Gland Mucoepidermoid Carcinoma	Parotid Gland Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma of Parotid \|\| Mucoepidermoid Carcinoma of Parotid Gland \|\| Mucoepidermoid Carcinoma of the Parotid \|\| Mucoepidermoid Carcinoma of the Parotid Gland \|\| Parotid Mucoepidermoid Carcinoma	A carcinoma that arises from the parotid gland. It usually presents as a firm and painless mass. It is characterized by the presence of epidermoid cells, mucus producing cells, and cells of intermediate type. It usually spreads to pre-auricular lymph nodes. The majority of cases have a favorable outcome.
C165258	Cellosaurus Disease Terminology	C4650	Parotid Gland Pleomorphic Adenoma	Parotid Gland Pleomorphic Adenoma	Benign Mixed Tumor of Parotid Gland \|\| Benign Mixed Tumor of the Parotid Gland \|\| Parotid Gland Benign Mixed Tumor \|\| Parotid Pleomorphic Adenoma \|\| Pleomorphic Adenoma of Parotid \|\| Pleomorphic Adenoma of Parotid Gland \|\| Pleomorphic Adenoma of the Parotid \|\| Pleomorphic Adenoma of the Parotid Gland	A benign, slow-growing tumor that arises from the parotid gland. It is composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin and women are more often affected than men.
C165258	Cellosaurus Disease Terminology	C5942	Parotid Gland Squamous Cell Carcinoma	Parotid Gland Squamous Cell Carcinoma	Parotid Squamous Cell Carcinoma \|\| Squamous Cell Carcinoma of Parotid \|\| Squamous Cell Carcinoma of Parotid Gland \|\| Squamous Cell Carcinoma of the Parotid \|\| Squamous Cell Carcinoma of the Parotid Gland	An invasive squamous cell carcinoma that arises from the parotid gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.
C165258	Cellosaurus Disease Terminology	C125385	Paroxysmal Extreme Pain Disorder	Paroxysmal Extreme Pain Disorder		A very rare, autosomal dominant inherited disorder caused by mutations in the SCN9A gene. It is characterized by skin redness and flushing and attacks of severe pain. The pain attacks usually last seconds to minutes.
C165258	Cellosaurus Disease Terminology	C61233	Paroxysmal Nocturnal Hemoglobinuria	Paroxysmal Nocturnal Hemoglobinuria	Paroxysmal Hemoglobinuria	A rare acquired hematologic disorder characterized by hemolytic anemia, dark-colored urine due to the release of hemoglobin in the blood, and thrombosis. The episodes of hemolysis tend to occur at night. It is caused by a somatic mutation in the glycosylphosphatidylinositol biosynthesis gene.
C165258	Cellosaurus Disease Terminology	C120192	Partial Androgen Insensitivity Syndrome	Partial Androgen Insensitivity Syndrome		A genetic disorder associated with a mutation in the AR gene, resulting in partial resistance to androgenic hormones.
C165258	Cellosaurus Disease Terminology	C122812	Partial Epilepsy	Partial Epilepsy		A seizure caused by a localized disorder.
C165258	Cellosaurus Disease Terminology	C84492	Patent Ductus Arteriosus	Patent Ductus Arteriosus		A congenital defect characterized by the failure of the ductus arteriosus to close soon after birth. As a consequence, blood from the aorta mixes with blood from the pulmonary artery. If untreated, it may lead to congestive heart failure.
C165258	Cellosaurus Disease Terminology	C157149	Pathological Myopia	Pathological Myopia		A sub-type of myopia characterized by high myopia with any posterior myopia-specific pathology resulting from axial elongation.
C165258	Cellosaurus Disease Terminology	C129746	PDX1-Associated Monogenic Diabetes	PDX1-Associated Monogenic Diabetes		Monogenic diabetes caused by inactivating mutation(s) in the PDX1 gene, encoding pancreas/duodenum homeobox protein 1. Homozygous PDX1 mutations result in permanent neonatal diabetes.
C165258	Cellosaurus Disease Terminology	C115326	Pearson Syndrome	Pearson Syndrome		The most severe syndrome in the spectrum of single, large-scale mitochondrial DNA (mtDNA) deletions (SLSMDs), usually presenting shortly after birth with sideroblastic anemia. The condition is often associated with exocrine pancreas insufficiency and multi-system dysfunction including diabetes mellitus, cortisol deficiency, hypothyroidism, hypoparathyroidism, and growth hormone deficiency. Commonly associated clinical findings include the following: failure to thrive, hypotonia, ptosis, ophthalmoparesis, and renal disease.
C165258	Cellosaurus Disease Terminology	C75487	Pelizaeus-Merzbacher Disease	Pelizaeus-Merzbacher Disease		An X-linked inherited disorder caused by mutations in the PLP1 gene on chromosome X. The signs and symptoms are the result of defective myelination of the central nervous system and include nystagmus, hypotonia, tremor, ataxia, spastic quadriparesis, and diffuse leukoencephalopathy.
C165258	Cellosaurus Disease Terminology	C34908	Pemphigoid	Pemphigoid		A rare autoimmune blistering skin disorder that resembles pemphigus but is histologically and clinically distinguishable by lack of evidence of acantholysis and a generally benign course.
C165258	Cellosaurus Disease Terminology	C34909	Pemphigus	Pemphigus		A blistering skin disorder. Morphologically it is characterized by acantholysis and intraepidermal blister formation.
C165258	Cellosaurus Disease Terminology	C34910	Pemphigus Vulgaris	Pemphigus Vulgaris		An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes.
C165258	Cellosaurus Disease Terminology	C121745	Pendred Syndrome	Pendred Syndrome		A condition associated with reduced export of iodide across the apical membrane of the follicular cells of the thyroid gland that may progress to hypothyroidism. Pendred syndrome is associated with an increased risk of goiter and sensorineural hearing loss due to malformations of the inner ear (vestibular system). Inactivating mutations in the SLC26A4 gene encoding the pendrin transport protein are responsible for the condition.
C165258	Cellosaurus Disease Terminology	C89802	Penta X Syndrome	Penta X Syndrome	49, XXXXX Syndrome \|\| XXXXX Syndrome	A rare sex chromosome abnormality in which a female child has 3 extra X chromosomes.
C165258	Cellosaurus Disease Terminology	C27322	Periampullary Adenocarcinoma	Periampullary Adenocarcinoma		An adenocarcinoma that arises from the periampullary region.
C165258	Cellosaurus Disease Terminology	C118676	Perinatal Mortality	Perinatal Mortality	Perinatal Death	Fetal or infant death during the period of time that includes the antepartum, intrapartum, and neonatal stages.
C165258	Cellosaurus Disease Terminology	C171602	Peripartum Cardiomyopathy	Peripartum Cardiomyopathy		A condition presenting toward the end of pregnancy or in the months following delivery characterized by left ventricular dysfunction. The NHLBI introduced the metric of left ventricular ejection fraction of less than 45 percent in 1999. MicroRNA-146a has been cited as a potential biomarker for PPCM.
C165258	Cellosaurus Disease Terminology	C9341	Peripheral Primitive Neuroectodermal Tumor	Peripheral Primitive Neuroectodermal Tumor	Peripheral Neuroectodermal Neoplasm \|\| Peripheral Neuroectodermal Tumor \|\| Peripheral Neuroepithelioma \|\| Peripheral PNET \|\| Peripheral Primitive Neuroectodermal Neoplasm	A small round cell tumor with neural differentiation arising from the soft tissues or bone.
C165258	Cellosaurus Disease Terminology	C8776	Peripheral Primitive Neuroectodermal Tumor of Bone	Peripheral Primitive Neuroectodermal Tumor of Bone	Bone Peripheral Neuroepithelioma \|\| Osseous Peripheral Neuroepithelioma \|\| Peripheral Neuroectodermal Tumor of Bone \|\| Peripheral Neuroectodermal Tumor of the Bone \|\| Peripheral Neuroepithelioma of Bone \|\| Peripheral Neuroepithelioma of the Bone	A small round cell tumor with neural differentiation arising from the bone. It may be associated with pain.
C165258	Cellosaurus Disease Terminology	C3501	Peripheral Sensory Neuropathy	Peripheral Sensory Neuropathy		Inflammation or degeneration of the sensory nerves.
C165258	Cellosaurus Disease Terminology	C9350	Peritoneal Malignant Mesothelioma	Peritoneal Malignant Mesothelioma	Malignant Mesothelioma of Peritoneum \|\| Malignant Mesothelioma of the Peritoneum \|\| Malignant Peritoneal Mesothelioma	An aggressive malignant mesothelioma that arises from the peritoneum. Patients usually present with abdominal pain and ascites.
C165258	Cellosaurus Disease Terminology	C202072	Periventricular Nodular Heterotopia	Periventricular Nodular Heterotopia		A genetically heterogenous condition characterized by round, nodular masses of normal neurons and glial cells with no laminar organization near the ventricles. Patients often develop drug-resistant epilepsy.
C165258	Cellosaurus Disease Terminology	C103144	Perlman Syndrome	Perlman Syndrome	Renal Hamartomas, Nephroblastomatosis and Fetal Gigantism	A rare, autosomal recessive syndrome characterized by the presence of polyhydramnios, neonatal macrosomia, craniofacial abnormalities, nephroblastomatosis, and predisposition to Wilms tumor. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C114902	Permanent Neonatal Diabetes Mellitus	Permanent Neonatal Diabetes Mellitus		Hyperglycemia in the first month of life due to a genetically determined defect in the structure, secretion and/or function of insulin that does not resolve spontaneously.
C165258	Cellosaurus Disease Terminology	C170437	Peroxisomal Acyl-CoA Oxidase Deficiency	Peroxisomal Acyl-CoA Oxidase Deficiency	Straight-Chain Acyl-CoA Oxidase Deficiency	An autosomal recessive condition caused by mutation(s) in the ACOX1 gene, encoding peroxisomal acyl-coenzyme A oxidase 1. It is characterized by increased concentrations of serum VLCFA and lack of ACOX1 activity. The clinical manifestations of this disease are similar to those of disorders of peroxisomal assembly.
C165258	Cellosaurus Disease Terminology	C155748	Peroxisome Biogenesis Disorder 1A	Peroxisome Biogenesis Disorder 1A		An autosomal recessive condition caused by mutation(s) in the PEX1 gene, encoding peroxisome biogenesis factor 1. Peroxisome biogenesis disorder 1A manifests phenotypically as Zellweger syndrome.
C165258	Cellosaurus Disease Terminology	C155750	Peroxisome Biogenesis Disorder 2A	Peroxisome Biogenesis Disorder 2A		An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome.
C165258	Cellosaurus Disease Terminology	C155751	Peroxisome Biogenesis Disorder 2B	Peroxisome Biogenesis Disorder 2B		An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.
C165258	Cellosaurus Disease Terminology	C155752	Peroxisome Biogenesis Disorder 3A	Peroxisome Biogenesis Disorder 3A		An autosomal recessive condition caused by mutation(s) in the PEX12 gene, encoding peroxisome assembly protein 12. Peroxisome biogenesis disorder 3A manifests phenotypically as Zellweger syndrome.
C165258	Cellosaurus Disease Terminology	C155760	Peroxisome Biogenesis Disorder 7A	Peroxisome Biogenesis Disorder 7A		An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7A manifests phenotypically as Zellweger syndrome.
C165258	Cellosaurus Disease Terminology	C155761	Peroxisome Biogenesis Disorder 7B	Peroxisome Biogenesis Disorder 7B		An autosomal recessive condition caused by mutation(s) in the PEX26 gene, encoding peroxisome assembly protein 26. Peroxisome biogenesis disorder 7B is characterized by overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease.
C165258	Cellosaurus Disease Terminology	C155762	Peroxisome Biogenesis Disorder 8A	Peroxisome Biogenesis Disorder 8A		An autosomal recessive condition caused by mutation(s) in the PEX16 gene, encoding peroxisomal membrane protein PEX16. Peroxisome biogenesis disorder 8A manifests phenotypically as Zellweger syndrome.
C165258	Cellosaurus Disease Terminology	C206102	Perrault Syndrome 5	Perrault Syndrome 5		An autosomal recessive condition caused by mutation(s) in the TWNK gene, encoding twinkle mtDNA helicase. In both sexes, it is characterized by deafness, with ovarian dysgenesis in females.
C165258	Cellosaurus Disease Terminology	C122923	Persistent Hyperinsulinemic Hypoglycemia of Infancy	Persistent Hyperinsulinemic Hypoglycemia of Infancy	Familial Hyperinsulinemic Hypoglycemia-1	A genetic condition caused by mutation(s) in the ABCC8 gene, encoding ATP-binding cassette sub-family C member 8.
C165258	Cellosaurus Disease Terminology	C98880	Persistent Truncus Arteriosus	Persistent Truncus Arteriosus	Truncus Arteriosus	A rare congenital cardiovascular disorder characterized by the failure of the embryologic structure truncus arteriosus to divide into the aorta and pulmonary trunk. It results in the presence of a single vessel instead of two vessels leading out of the heart. Clinical signs and symptoms include cyanosis that is present at birth, poor growth, dyspnea, tachypnea, arrhythmia, cardiomegaly, and heart failure. If it is not surgically repaired, it leads to death.
C165258	Cellosaurus Disease Terminology	C34766	Perthes Disease	Perthes Disease	Legg-Calve-Perthes Disease	A very rare disorder of unknown etiology affecting children. It is characterized by avascular necrosis of the femoral head.
C165258	Cellosaurus Disease Terminology	C97179	Pervasive Developmental Disorder	Pervasive Developmental Disorder		A category of developmental disorders characterized by impaired communication and socialization skills. The impairments are incongruent with the individual's developmental level or mental age. These disorders can be associated with general medical or genetic conditions.
C165258	Cellosaurus Disease Terminology	C123436	Peters-Plus Syndrome	Peters-Plus Syndrome		A rare, autosomal recessive inherited syndrome caused by mutations in the B3GALTL gene. It is characterized by abnormalities in the anterior chamber of the eye, short stature, cleft lip with or without cleft palate, distinctive facial features, and intellectual disability.
C165258	Cellosaurus Disease Terminology	C124839	Pettigrew Syndrome	Pettigrew Syndrome	PGS	A rare, X-linked inherited syndrome characterized by mental retardation and additional features, which include choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain.
C165258	Cellosaurus Disease Terminology	C3324	Peutz-Jeghers Syndrome	Peutz-Jeghers Syndrome	Jeghers-Peutz Syndrome \|\| Peutz's Syndrome	An inherited condition characterized by generalized hamartomatous multiple polyposis of the intestinal tract. Transmitted in an autosomal dominant fashion, Peutz-Jeghers syndrome consistently involves the jejunum and is associated with melanin spots of the lips, buccal mucosa, and fingers. This syndrome is associated with abnormalities of chromosome 19. Also known as Jeghers-Peutz syndrome and Peutz's syndrome.
C165258	Cellosaurus Disease Terminology	C102872	Pharyngeal Squamous Cell Carcinoma	Pharyngeal Squamous Cell Carcinoma		A squamous cell carcinoma that arises from the pharynx.
C165258	Cellosaurus Disease Terminology	C157124	Phelan-McDermid Syndrome	Phelan-McDermid Syndrome	Chromosome 22q13.3 Deletion Syndrome	An autosomal dominant condition caused by mutation(s) and or deletion of the SHANK3 gene, encoding SH3 and multiple ankyrin repeat domains protein 3. It is characterized by variable features, which may include intellectual disability, autism spectrum disorder, developmental delay and mild dysmorphic features.
C165258	Cellosaurus Disease Terminology	C81315	Phenylketonuria	Phenylketonuria		An autonomic recessive genetic disorder characterized by the body's inability to metabolize and utilize the amino acid phenylalanine, resulting in mental retardation, behavioral and movement problems, seizures, and developmental delays.
C165258	Cellosaurus Disease Terminology	C126738	Phosphoglycerate Kinase 1 Deficiency	Phosphoglycerate Kinase 1 Deficiency		An X-linked recessive inherited disorder caused by mutations in the PGK1 gene. Clinical manifestations include hemolytic anemia, myopathy, and neurologic involvement.
C165258	Cellosaurus Disease Terminology	C85008	Pick's Disease	Pick's Disease	Pick Disease	A rare neurodegenerative disorder leading to dementia. It is characterized by frontotemporal lobar degeneration with accumulation of tau proteins which form Pick bodies.
C165258	Cellosaurus Disease Terminology	C176703	PIK3R1-Associated Immunodeficiency	Activated PI3K Delta Syndrome 2	Activated PI3K-Delta Syndrome 2 \|\| Immunodeficiency 36 \|\| PIK3R1-Associated Immunodeficiency	An autosomal dominant condition caused by mutation(s) in the PIK3R1 gene, encoding phosphatidylinositol 3-kinase regulatory subunit alpha. It is characterized by a heterogenous phenotype, including recurrent respiratory infections, lymphoproliferation, and antibody deficiency. There is an increased likelihood of development of B-cell lymphoma.
C165258	Cellosaurus Disease Terminology	C134949	Pike Sarcoma	Pike Sarcoma		Sarcoma that occurs in a pike.
C165258	Cellosaurus Disease Terminology	C4047	Pilocytic Astrocytoma	Pilocytic Astrocytoma	Grade 1 Astrocytic Neoplasm \|\| Grade 1 Astrocytic Tumor \|\| Grade 1 Astrocytoma \|\| Grade I Astrocytic Neoplasm \|\| Grade I Astrocytic Tumor \|\| Grade I Astrocytoma	A WHO grade 1, relatively circumscribed, slowly growing, often cystic astrocytoma occurring in children and young adults. Histologically it is characterized by a biphasic pattern with compacted bipolar cells associated with Rosenthal fibers and multipolar cells associated with microcysts and eosinophilic bodies/hyaline droplets. (WHO)
C165258	Cellosaurus Disease Terminology	C8712	Pineal Region Germinoma	Pineal Region Germinoma	Pineal Germinoma	A germinoma that arises from the pineal gland.
C165258	Cellosaurus Disease Terminology	C129872	Pitt-Hopkins Syndrome	Pitt-Hopkins Syndrome		An autosomal dominant condition caused by mutation(s) on the TCF4 gene, encoding transcription factor 4. It is characterized by intellectual disability, developmental delay, breathing problems and seizures.
C165258	Cellosaurus Disease Terminology	C94524	Pituicytoma	Pituicytoma	Pituicytoma (WHO Grade 1) \|\| Pituicytoma (WHO Grade I) \|\| Posterior Pituitary Astrocytoma	An extremely rare, WHO grade 1, circumscribed and slow-growing tumor that arises from the neurohypophysis or infundibulum and described in adults. It is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. Signs and symptoms include visual disturbances, headache, amenorrhea, and decreased libido.
C165258	Cellosaurus Disease Terminology	C3329	Pituitary Gland Adenoma	Pituitary Neuroendocrine Tumor	Adenoma of Pituitary \|\| Adenoma of Pituitary Gland \|\| Adenoma of the Pituitary \|\| Adenoma of the Pituitary Gland \|\| PitNET/Adenoma \|\| Pituitary Adenoma \|\| Pituitary Neuroendocrine Tumor (Formerly Pituitary Adenoma) \|\| Pituitary Neuroendocrine Tumor/Adenoma	A well-differentiated neuroendocrine neoplasm that arises from the adenohypophysial cells of the anterior lobe of the pituitary gland. The tumor can be hormonally functioning or not. It has a low frequency of metastatic spread. When metastatic, the term metastatic pituitary neuroendocrine tumor is endorsed instead of pituitary carcinoma. (WHO)
C165258	Cellosaurus Disease Terminology	C4536	Pituitary Gland Carcinoma	Metastatic Pituitary Neuroendocrine Tumor	Cancer of Pituitary \|\| Cancer of Pituitary Gland \|\| Cancer of the Pituitary \|\| Cancer of the Pituitary Gland \|\| Carcinoma of Pituitary \|\| Carcinoma of Pituitary Gland \|\| Carcinoma of the Pituitary \|\| Carcinoma of the Pituitary Gland \|\| Metastatic PitNET \|\| Metastatic Pituitary Gland Carcinoma \|\| Pituitary Carcinoma \|\| Pituitary Gland Adenocarcinoma \|\| Pituitary Gland Cancer	Pituitary neuroendocrine tumor that has spread from its original site of growth to another anatomic site.
C165258	Cellosaurus Disease Terminology	C3242	Plasma Cell Myeloma	Multiple Myeloma	Multiple Myeloma/Plasma Cell Myeloma \|\| Myeloma \|\| Plasma Cell Myeloma \|\| Plasma Cell Myeloma/Multiple Myeloma	A bone marrow-based plasma cell neoplasm characterized by a serum monoclonal protein and skeletal destruction with osteolytic lesions, pathological fractures, bone pain, hypercalcemia, and anemia. Clinical variants include non-secretory myeloma, smoldering myeloma, indolent myeloma, and plasma cell leukemia. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C7224	Plasmablastic Lymphoma	Plasmablastic Lymphoma		An aggressive diffuse large B-cell lymphoma frequently arising in the setting of HIV infection and characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. Sites of involvement include the oral cavity, sinonasal cavity, skin, soft tissues, gastrointestinal tract, and bone.
C165258	Cellosaurus Disease Terminology	C133884	Plasminogen Activator Inhibitor-1 Deficiency	Plasminogen Activator Inhibitor-1 Deficiency		An autosomal recessive condition caused by mutation(s) in the PAI1 gene, encoding plasminogen activator inhibitor 1. It is characterized by increased bleeding following trauma, injury, or surgery and in women, menorrhagia.
C165258	Cellosaurus Disease Terminology	C3705	Pleomorphic Liposarcoma	Pleomorphic Liposarcoma		A rare, aggressive liposarcoma characterized by the presence of varying proportions of pleomorphic lipoblasts in a background that resembles undifferentiated pleomorphic sarcoma.
C165258	Cellosaurus Disease Terminology	C4258	Pleomorphic Rhabdomyosarcoma	Pleomorphic Rhabdomyosarcoma		An aggressive malignant mesenchymal neoplasm with skeletal muscle differentiation, occurring in adults and rarely in children. The tumor is characterized by the presence of bizarre round, spindle, and polygonal cells. Clinical presentation includes a rapidly enlarging painful mass usually of the lower extremities.
C165258	Cellosaurus Disease Terminology	C45665	Pleural Biphasic Mesothelioma	Pleural Biphasic Mesothelioma		Malignant mesothelioma that arises from the pleura. It is characterized by the presence of epithelioid and sarcomatoid components, with each component representing at least 10% of the tumor.
C165258	Cellosaurus Disease Terminology	C45664	Pleural Desmoplastic Mesothelioma	Pleural Desmoplastic Mesothelioma		Malignant mesothelioma that arises from the pleura. It is characterized by the presence of dense collagenized stroma occupying at least 50% of the tumor. The malignant cells are arranged in a vague storiform pattern.
C165258	Cellosaurus Disease Terminology	C45662	Pleural Epithelioid Mesothelioma	Pleural Epithelioid Mesothelioma		Malignant mesothelioma that arises from the pleura. It is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns.
C165258	Cellosaurus Disease Terminology	C7376	Pleural Malignant Mesothelioma	Pleural Malignant Mesothelioma	Malignant Mesothelioma of Pleura \|\| Malignant Mesothelioma of the Pleura \|\| Malignant Pleural Mesothelioma \|\| Pleural Diffuse Malignant Mesothelioma	A malignant neoplasm that arises from mesothelial cells in the pleura and shows a diffuse growth pattern. It arises on the parietal and sometimes visceral pleura as multiple small nodules that later become confluent and invade the chest wall adipose tissue and muscle. Asbestos exposure is the main cause for the development of pleural malignant mesothelioma. It usually affects patients over sixty years of age. The latency period is long. Patients usually present with pleural effusion, dyspnea and chest wall pain. Additional signs and symptoms include chills, sweating, weight loss, and weakness. Morphologic variants include epithelioid, desmoplastic, sarcomatoid, and biphasic mesothelioma. The clinical course is usually aggressive.
C165258	Cellosaurus Disease Terminology	C45663	Pleural Sarcomatoid Mesothelioma	Pleural Sarcomatoid Mesothelioma		Malignant mesothelioma that arises from the pleura. It is characterized by the presence of spindle cells. Anaplastic morphologic features and multinucleated malignant cells may also be seen.
C165258	Cellosaurus Disease Terminology	C4457	Pleural Solitary Fibrous Tumor	Pleural Solitary Fibrous Tumor	Fibroma of Pleura \|\| Fibroma of the Pleura \|\| Pleural Fibroma \|\| Solitary Fibrous Tumor of Pleura \|\| Solitary Fibrous Tumor of the Pleura	A localized neoplasm of probable fibroblastic derivation, that arises from the pleura. It is characterized by the presence of round to spindle-shaped cells, hylanized stroma formation, thin-walled branching blood vessels, and thin bands of collagen.
C165258	Cellosaurus Disease Terminology	C26860	Pleuritis	Pleuritis	Pleurisy	Inflammation of the pleura. It is usually caused by infections. Chest pain while breathing or coughing is the presenting symptom.
C165258	Cellosaurus Disease Terminology	C134962	Poeciliopsis Lucida Hepatocellular Carcinoma	Poeciliopsis Lucida Hepatocellular Carcinoma		Hepatocellular carcinoma that occurs in Poeciliopsis lucida.
C165258	Cellosaurus Disease Terminology	C80303	POEMS Syndrome	POEMS Syndrome	Crow-Fukase syndrome	A syndrome characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes. It is associated with plasma cell dyscrasia.
C165258	Cellosaurus Disease Terminology	C53975	Poikiloderma	Poikiloderma		A localized skin condition commonly associated with sun exposure that is characterized by variegated discoloration, telangiectasia and atrophy.
C165258	Cellosaurus Disease Terminology	C177535	Poikiloderma with Neutropenia	Poikiloderma with Neutropenia		An autosomal recessive condition caused by mutation(s) in the USB1 gene, encoding U6 snRNA phosphodiesterase. It is characterized by poikiloderma and chronic noncyclic neutropenia.
C165258	Cellosaurus Disease Terminology	C157267	POLG-Related Spectrum Disorders	POLG-Related Spectrum Disorders		A group of disorders with overlapping phenotypes caused by mutation(s) of the POLG gene, encoding DNA polymerase subunit gamma-1. Phenotypic variations include Alpers-Huttenlocher syndrome (AHS), childhood myocerebrohepatopathy spectrum (MCHS), myoclonic epilepsy myopathy sensory ataxia (MEMSA), ataxia neuropathy spectrum (ANS), autosomal recessive progressive external ophthalmoplegia (arPEO), and autosomal dominant progressive external ophthalmoplegia (adPEO).
C165258	Cellosaurus Disease Terminology	C206117	POLR3A-Related Spastic Ataxia	POLR3A-Related Spastic Ataxia	Adolescent-Onset Spastic Ataxia \|\| POLR3A-Related Late-Onset Spastic Ataxia	An autosomal recessive condition caused by mutation(s) in the POLR3A gene, encoding DNA-directed RNA polymerase III subunit RPC1. It is characterized by cerebellar ataxia and/or lower limb spasticity.
C165258	Cellosaurus Disease Terminology	C26847	Polyarteritis Nodosa	Polyarteritis Nodosa	Classical Polyarteritis Nodosa \|\| Panarteritis Nodosa \|\| Periarteritis Nodosa	A necrotizing vasculitis that affects medium-sized arteries, it is usually idiopathic, and may be triggered by viral infections (Hepatitis B, also others). A multisystem disease, it most commonly affects skin (nodules, livedo reticularis) and peripheral nerves; higher morbidity is associated with gastrointestinal, central nervous system, cardiac, and/or other organ involvement. Anti-neutrophil cytoplasmic antibodies (ANCA) are typically negative.
C165258	Cellosaurus Disease Terminology	C75464	Polycystic Kidney Disease	Polycystic Kidney Disease	PKD - Polycystic Kidney Disease	A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
C165258	Cellosaurus Disease Terminology	C177539	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	Polycystic Kidney Disease, Infantile Severe, with Tuberous Sclerosis	Autosomal Dominant Polycystic Kidney Disease Type 1 with Tuberous Sclerosis \|\| TSC2-PKD1 Contiguous Gene Deletion Syndrome	An autosomal dominant condition caused by a contiguous gene deletion involving the PKD1 and TSC2 genes, encoding polycystin-1 and tuberin respectively. It is characterized by polycystic kidneys and tuberous sclerosis.
C165258	Cellosaurus Disease Terminology	C26862	Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	Polycystic Ovarian Disease \|\| Stein-Leventhal Syndrome	A disorder that manifests as multiple cysts on the ovaries. It results in hormonal imbalances and leads to irregular and abnormal menstrual periods, excess growth of hair, acne eruptions and obesity.
C165258	Cellosaurus Disease Terminology	C3336	Polycythemia Vera	Polycythemia Vera	Polycythemia Rubra Vera	A chronic myeloproliferative neoplasm characterized by an increased red blood cell production. The bone marrow is hypercellular due to a panmyelotic proliferation typically characterized by pleomorphic megakaryocytes. The major symptoms are related to hypertension, splenomegaly or to episodes of thrombosis and/or hemorrhage.
C165258	Cellosaurus Disease Terminology	C87110	Polydactyly	Polydactyly	Hyperdactyly \|\| Polydactylism	A congenital abnormality characterized by more than 5 digits on a hand or foot.
C165258	Cellosaurus Disease Terminology	C206116	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract	Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract		An autosomal recessive condition caused by mutation(s) in the ABHD12 gene, encoding lysophosphatidylserine lipase ABHD12. It is characterized by polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract.
C165258	Cellosaurus Disease Terminology	C125597	Polysyndactyly	Polysyndactyly		A rare anatomical malformation characterized by polydactyly (extra fingers or toes) and syndactyly (webbed fingers or toes).
C165258	Cellosaurus Disease Terminology	C190872	Pontocerebellar Hypoplasia Type 1B	Pontocerebellar Hypoplasia Type 1B		An autosomal recessive condition caused by mutation(s) in the EXOSC3 gene, encoding exosome complex component RRP40. It is characterized by severe intellectual disability, skeletal muscle weakness, and seizures.
C165258	Cellosaurus Disease Terminology	C6040	Poorly Differentiated Thyroid Gland Carcinoma	Poorly Differentiated Thyroid Gland Carcinoma	Insular Carcinoma \|\| Poorly Differentiated Carcinoma of Thyroid Gland \|\| Poorly Differentiated Carcinoma of the Thyroid Gland \|\| Poorly Differentiated Thyroid Carcinoma \|\| Thyroid Gland Poorly Differentiated Carcinoma	A follicular-derived thyroid gland carcinoma that is histologically poorly differentiated and has high-grade features.
C165258	Cellosaurus Disease Terminology	C141365	Porcine Leukemia	Porcine Leukemia		Leukemia that occurs in a pig.
C165258	Cellosaurus Disease Terminology	C134786	Porcine Lymphoma	Porcine Lymphoma		Lymphoma that occurs in a pig.
C165258	Cellosaurus Disease Terminology	C85019	Porokeratosis	Porokeratosis		A clonal proliferation of abnormal keratinocytes characterized by the development of localized or multiple atrophic skin patches surrounded by an annular keratotic ring called cornoid lamella.
C165258	Cellosaurus Disease Terminology	C27725	Porphyria Cutanea Tarda	Porphyria Cutanea Tarda		A cutaneous form of the genetic photosensitive disease, porphyria, that is characterized by onset in adult life and the presence of scarring bullae, hyperpigmentation, facial hypertrichosis, and sometimes sclerodermatous thickenings and alopecia. Uroporphyrins are found in the urine due to a deficiency of uroporphyrinogen decarboxylase, an enzyme required for the synthesis of heme.
C165258	Cellosaurus Disease Terminology	C124846	Potocki-Lupski Syndrome	Potocki-Lupski Syndrome	17p11.2 Duplication Syndrome \|\| PTLS	A rare genetic disorder characterized by hypotonia, failure to thrive, mental retardation, developmental disorders, congenital anomalies, and autism spectrum disorders. The majority of patients harbor a microduplication of chromosome 17p11.
C165258	Cellosaurus Disease Terminology	C75456	Potocki-Shaffer Syndrome	Potocki-Shaffer Syndrome		A very rare genetic syndrome caused by deletions on the proximal short arm of chromosome 11. It is characterized by the presence of multiple exostoses and enlarged parietal foramina.
C165258	Cellosaurus Disease Terminology	C75463	Prader-Willi Syndrome	Prader-Willi Syndrome		A genetic syndrome caused by deletions or disruptions of chromosome 15. It is characterized by reduced fetal activity, mental retardation, hypotonia, short stature, and hypogonadism.
C165258	Cellosaurus Disease Terminology	C80099	Premature Menopause	Premature Menopause	Premature Ovarian Failure	Cessation of menstruation before the age of 40. Symptoms include hot flashes, night sweats, mood swings, and decreased sex drive.
C165258	Cellosaurus Disease Terminology	C54936	Premature Ventricular Contraction, CTCAE	Premature Ventricular Contraction, CTCAE
C165258	Cellosaurus Disease Terminology	C132292	Presynaptic Congenital Myasthenic Syndrome 6	Presynaptic Congenital Myasthenic Syndrome 6		Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
C165258	Cellosaurus Disease Terminology	C188151	Primary Aldosteronism, Seizures, and Neurologic Abnormalities	Primary Aldosteronism, Seizures, and Neurologic Abnormalities		An autosomal dominant condition caused by mutation(s) in the CACNA1D gene, encoding voltage-dependent L-type calcium channel subunit alpha-1D. It is characterized by primary hyperaldosteronism, seizures, and neurologic defects.
C165258	Cellosaurus Disease Terminology	C27167	Primary Biliary Cirrhosis	Primary Biliary Cirrhosis	Chronic Non-Suppurative Destructive Cholangitis \|\| Primary Biliary Cholangitis \|\| Primary Biliary Cirrhosis (PBC)	An autoimmune inflammatory disorder characterized by destruction of the small intrahepatic bile ducts. It affects predominantly females and it may lead to cirrhosis and liver failure. Patients have antimitochondrial and antinuclear antibodies in the peripheral blood.
C165258	Cellosaurus Disease Terminology	C98864	Primary Carnitine Deficiency	Primary Carnitine Deficiency	Carnitine Transporter Deficiency \|\| Carnitine Uptake Deficiency \|\| Systemic Primary Carnitine Deficiency	An autosomal recessive inherited disorder caused by mutations in the SLC22A5 gene. It is characterized by the presence of a defective protein called OCTN2 which is involved in the transportation of carnitine into the cells. This abnormality results in reduced energy production and accumulation of fatty acids in the tissues. Clinical manifestations of confusion, muscle weakness, hypoglycemia, encephalopathy and cardiomyopathy may be exacerbated during fasting.
C165258	Cellosaurus Disease Terminology	C7155	Primary Central Chondrosarcoma	Primary Central Chondrosarcoma	Primary Bone Chondrosarcoma \|\| Primary Chondrosarcoma \|\| Primary Chondrosarcoma of Bone \|\| Primary Chondrosarcoma of the Bone	A chondrosarcoma arising from the central portion of bone without a benign precursor.
C165258	Cellosaurus Disease Terminology	C128117	Primary Ciliary Dyskinesia 1	Primary Ciliary Dyskinesia 1		An autosomal recessive primary ciliary motility defect caused by mutation(s) in the DNAI1 gene, encoding dynein intermediate chain 1, axonemal.
C165258	Cellosaurus Disease Terminology	C155999	Primary Ciliary Dyskinesia 15	Primary Ciliary Dyskinesia 15		An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCDC40 gene, encoding coiled-coil domain-containing protein 40.
C165258	Cellosaurus Disease Terminology	C172393	Primary Ciliary Dyskinesia 29	Primary Ciliary Dyskinesia 29		An autosomal recessive primary ciliary motility defect caused by mutation(s) in the CCNO gene, encoding cyclin-O.
C165258	Cellosaurus Disease Terminology	C172392	Primary Ciliary Dyskinesia 3	Primary Ciliary Dyskinesia 3		An inherited ciliary motility defect caused by mutation(s) in the DNAH5 gene, encoding dynein heavy chain 5, axonemal.
C165258	Cellosaurus Disease Terminology	C202610	Primary Ciliary Dyskinesia 42	Primary Ciliary Dyskinesia 42		An autosomal recessive primary ciliary motility defect caused by mutation(s) in the MCIDAS gene, encoding multicilin.
C165258	Cellosaurus Disease Terminology	C150251	Primary Congenital Glaucoma	Primary Congenital Glaucoma		Congenital glaucoma that arises independent of another pathologic process, disease, or injury.
C165258	Cellosaurus Disease Terminology	C148260	Primary Congenital Glaucoma 3A	Primary Congenital Glaucoma 3A		An autosomal recessive form of congenital glaucoma caused by mutation(s) in the CYP1B1 gene, encoding cytochrome P450 1B1.
C165258	Cellosaurus Disease Terminology	C45194	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type	Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg-Type	An aggressive primary cutaneous B-cell lymphoma, usually involving the lower leg. It is composed of a generally monotonous proliferation of immunoblasts, or less frequently centroblasts, with few admixed reactive cells. This type of lymphoma occurs most often in elderly women who present with rapidly growing tumors, usually on one or both legs. Dissemination to extracutaneous sites is frequent. Treatment with combination chemotherapy is usually required.
C165258	Cellosaurus Disease Terminology	C3467	Primary Cutaneous T-Cell Non-Hodgkin Lymphoma	Primary Cutaneous T-Cell Non-Hodgkin Lymphoma	Cutaneous T Cell Lymphoma \|\| Cutaneous T-Cell Non-Hodgkin Lymphoma \|\| Cutaneous T-Cell Non-Hodgkin's Lymphoma \|\| Primary Cutaneous T-Cell Non-Hodgkin's Lymphoma \|\| Skin T-Cell Non-Hodgkin's Lymphoma \|\| T-Cell Non-Hodgkin's Lymphoma of Skin \|\| T-Cell Non-Hodgkin's Lymphoma of the Skin	A T-cell non-Hodgkin lymphoma arising from the skin. Representative examples include mycosis fungoides and primary cutaneous anaplastic large cell lymphoma.
C165258	Cellosaurus Disease Terminology	C6915	Primary Effusion Lymphoma	Primary Effusion Lymphoma		A large B-cell lymphoma usually presenting as a serous effusion without detectable tumor masses. It is universally associated with human herpes virus 8 (HHV8), also called Kaposi sarcoma-associated herpesvirus. It mostly occurs in the setting of immunodeficiency. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. Rare HHV8-positive lymphomas indistinguishable from primary effusion lymphomas (PEL) present as solid tumor masses, and have been termed extracavitary PEL. The prognosis is extremely unfavorable. (WHO 2017)
C165258	Cellosaurus Disease Terminology	C125383	Primary Erythromelalgia	Primary Erythromelalgia	Primary Erythermalgia \|\| Primary Erythromelalgia	An autosomal dominant condition caused by mutation(s) in the SCN9A gene, encoding sodium channel protein type 9 subunit alpha. It is characterized by episodes of recurrent warmth, redness, and burning sensations in the extremities.
C165258	Cellosaurus Disease Terminology	C123212	Primary Hyperoxaluria Type I	Primary Hyperoxaluria Type I		Recessively inherited primary hyperoxaluria due to alanine-glyoxylate aminotransferase (AGXT) deficiency.
C165258	Cellosaurus Disease Terminology	C179057	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1	Primary Hypertrophic Osteoarthropathy, Autosomal Recessive Type 1	Pachydermoperiostosis \|\| Touraine-Solente-Gol� Syndrome	An autosomal recessive condition caused by mutation(s) in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase. It is characterized by digital clubbing, pachydermia, and hyperhidrosis.
C165258	Cellosaurus Disease Terminology	C129933	Primary Lateral Sclerosis	Primary Lateral Sclerosis		A progressive neurodegenerative disorder affecting upper motor neurons, characterized by progressive muscle weakness.
C165258	Cellosaurus Disease Terminology	C9280	Primary Mediastinal (Thymic) Large B-Cell Lymphoma	Primary Mediastinal Large B-Cell Lymphoma	B-Cell Diffuse Large Cell Lymphoma of Mediastinum \|\| B-Cell Diffuse Large Cell Lymphoma of the Mediastinum \|\| Mediastinal (Thymic) Large B-Cell Lymphoma \|\| Mediastinal B-Cell Diffuse Large Cell Lymphoma \|\| Primary Mediastinal (Thymic) Large B-Cell Lymphoma \|\| Primary Mediastinal Large B-Cell Lymphoma	A large B-cell non-Hodgkin lymphoma arising in the mediastinum. Morphologically it is characterized by a massive diffuse lymphocytic proliferation associated with compartmentalizing fibrosis. Response to intensive chemotherapy, with or without radiotherapy, is usually good. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C2862	Primary Myelofibrosis	Primary Myelofibrosis	Agnogenic Myeloid Metaplasia \|\| Idiopathic Bone Marrow Fibrosis \|\| Idiopathic Myelofibrosis \|\| Myelosclerosis with Myeloid Metaplasia	A chronic myeloproliferative neoplasm characterized by bone marrow fibrosis, proliferation of atypical megakaryocytes and granulocytes in the bone marrow, anemia, splenomegaly, and extramedullary hematopoiesis. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C35394	Primary Open Angle Glaucoma	Primary Open Angle Glaucoma		A form of glaucoma in which there is no visible abnormality in the trabecular meshwork.
C165258	Cellosaurus Disease Terminology	C40022	Primary Peritoneal Carcinoma	Primary Peritoneal Carcinoma		A rare carcinoma that arises from the peritoneum and resembles the malignant surface epithelial-stromal tumors that arise from the ovary. Serous adenocarcinoma is the most common histologic variant. It affects women almost exclusively. The diagnosis of primary peritoneal carcinoma can be made only if both ovaries are not involved by tumor, or, if the ovaries are involved, the tumor is confined to the ovarian surface without invasion of the ovarian stroma and the peritoneal involvement is greater than the ovarian surface involvement.
C165258	Cellosaurus Disease Terminology	C7695	Primary Peritoneal Serous Papillary Adenocarcinoma	Primary Peritoneal Serous Papillary Adenocarcinoma	Primary Peritoneal Serous Papillary Carcinoma \|\| Primary Serous Papillary Carcinoma of Peritoneum	A rare, serous papillary adenocarcinoma that arises from the lining of the peritoneum. It affects females. The clinical behavior and pathologic characteristics are similar to the serous papillary adenocarcinoma that arises from the ovary.
C165258	Cellosaurus Disease Terminology	C39898	Primary Prostate Urothelial Carcinoma	Primary Prostate Urothelial Carcinoma	Prostate Transitional Cell Carcinoma \|\| Prostate Urothelial Carcinoma \|\| Transitional Cell Carcinoma of Prostate \|\| Transitional Cell Carcinoma of the Prostate	An urothelial carcinoma that arises from the urothelial lining of the prostatic ducts or the prostatic urethra.
C165258	Cellosaurus Disease Terminology	C174219	Primary Pulmonary Hypertension-1	Primary Pulmonary Hypertension-1		An autosomal dominant type of primary pulmonary hypertension caused by mutation(s) in the BMPR2 gene, encoding bone morphogenetic protein receptor type-2.
C165258	Cellosaurus Disease Terminology	C3716	Primitive Neuroectodermal Tumor	Primitive Neuroectodermal Tumor	Neuroectodermal Neoplasm \|\| Neuroectodermal Tumor \|\| Neuroepithelioma \|\| Primitive Neuroectodermal Neoplasm	A malignant neoplasm that originates in the neuroectoderm. The neuroectoderm constitutes the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems and includes some glial cell precursors.
C165258	Cellosaurus Disease Terminology	C34951	Progeria	Progeria	Hutchinson-Gilford Disease \|\| Hutchinson-Gilford Progeria Syndrome \|\| Premature Senility Syndrome	A very rare genetic disorder caused by mutations in the LMNA gene. It is characterized by premature aging. Signs and symptoms include failure to thrive, limited growth, alopecia, wrinkled skin, small face, development of atherosclerosis, and heart disease. There is no cure for this condition. Individuals do not usually survive beyond their early twenties. Death usually occurs as a result of complications from atherosclerosis.
C165258	Cellosaurus Disease Terminology	C85026	Progressive Bulbar Palsy	Progressive Bulbar Palsy		A progressive motor neuron disorder affecting the muscles which are innervated by cranial nerves of the lower brain stem. Signs and symptoms include difficulties in chewing and swallowing, dysarthria, and weakness of the facial muscles and tongue.
C165258	Cellosaurus Disease Terminology	C126651	Progressive Familial Heart Block, Type Ia	Progressive Familial Heart Block, Type Ia	Lenegre's Disease \|\| Lenegre-Lev Disease \|\| PFHB1A \|\| Progressive Familial Heart Block 1A	An autosomal dominant inherited cardiac bundle branch disorder which can progress to complete heart block.
C165258	Cellosaurus Disease Terminology	C84453	Progressive Familial Intrahepatic Cholestasis	Progressive Familial Intrahepatic Cholestasis		A genetic syndrome affecting infants and children. It is characterized by chronic intrahepatic cholestasis usually progressing to cirrhosis within the first ten years of life.
C165258	Cellosaurus Disease Terminology	C26815	Progressive Multifocal Leukoencephalopathy	Progressive Multifocal Leukoencephalopathy	PML	A progressive demyelination within the central nervous system associated with reactivation of a latent JC virus infection.
C165258	Cellosaurus Disease Terminology	C85027	Progressive Muscular Atrophy	Progressive Muscular Atrophy		A rare, milder form of amyotrophic lateral sclerosis. It is characterized by a slowly progressive clinical course. Signs and symptoms include muscle weakness, atrophy, and fasciculation.
C165258	Cellosaurus Disease Terminology	C202612	Progressive Pseudorheumatoid Dysplasia	Progressive Pseudorheumatoid Dysplasia		An autosomal recessive condition caused by mutation(s) in the CCN6 gene, encoding cellular communication network factor 6. It is a progressive arthropathy that clinically resembles rheumatoid arthritis but differs in its radiological appearance.
C165258	Cellosaurus Disease Terminology	C85028	Progressive Supranuclear Palsy	Progressive Supranuclear Palsy	Steele-Richardson-Olszewski Syndrome	A rare neurodegenerative disorder characterized by gait and balance difficulties and loss of coordination of eye movements.
C165258	Cellosaurus Disease Terminology	C85029	Prolidase Deficiency	Prolidase Deficiency		A rare autosomal recessive inherited inborn error of metabolism caused by mutations in the PEPD gene. Signs and symptoms include facial abnormalities, mental retardation, skin ulcers, susceptibility to infections, and skeletal abnormalities.
C165258	Cellosaurus Disease Terminology	C85030	Propionic Acidemia	Propionic Acidemia		A rare autosomal inherited organic acid disorder caused by mutations in the PCCA and PCCB genes. It results in the accumulation of harmful organic acids in the blood and urine. Signs and symptoms appear in infancy and include vomiting, poor feeding, loss of appetite, hypotonia, and lethargy.
C165258	Cellosaurus Disease Terminology	C39903	Prostate Adenocarcinoma with Neuroendocrine Differentiation	Prostate Adenocarcinoma with Neuroendocrine Differentiation		An invasive prostate adenocarcinoma characterized by the presence of malignant cells that exhibit neuroendocrine differentiation.
C165258	Cellosaurus Disease Terminology	C4863	Prostate Carcinoma	Prostate Carcinoma	Cancer of Prostate \|\| Cancer of the Prostate \|\| Carcinoma of Prostate \|\| Carcinoma of the Prostate \|\| Prostate Cancer	One of the most common malignant tumors afflicting men. The majority of carcinomas arise in the peripheral zone and a minority occur in the central or the transitional zone of the prostate gland. Grossly, prostatic carcinomas appear as ill-defined yellow areas of discoloration in the prostate gland lobes. Adenocarcinomas represent the overwhelming majority of prostatic carcinomas. Prostatic-specific antigen (PSA) serum test is widely used as a screening test for the early detection of prostatic carcinoma. Treatment options include radical prostatectomy, radiation therapy, androgen ablation and cryotherapy. Watchful waiting or surveillance alone is an option for older patients with low-grade or low-stage disease.
C165258	Cellosaurus Disease Terminology	C6766	Prostate Small Cell Carcinoma	Prostate Small Cell Neuroendocrine Carcinoma	Prostate Small Cell Carcinoma \|\| Prostate Small Cell NEC \|\| Small Cell Carcinoma of Prostate \|\| Small Cell Carcinoma of the Prostate	A rare small cell neuroendocrine carcinoma that arises from the prostate gland.
C165258	Cellosaurus Disease Terminology	C5536	Prostate Squamous Cell Carcinoma	Prostate Squamous Cell Carcinoma	Squamous Cell Carcinoma of Prostate \|\| Squamous Cell Carcinoma of the Prostate	An invasive prostate carcinoma characterized by the presence of malignant cells with squamous differentiation. There is no evidence of glandular differentiation.
C165258	Cellosaurus Disease Terminology	C176619	Proteasome-Associated Autoinflammatory Syndrome 1	Proteasome-Associated Autoinflammatory Syndrome 1	Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome	An autosomal recessive condition caused by mutation(s) in the PSMB8 gene, encoding proteasome subunit beta type-8. It is characterized by early onset annular erythematous plaques, partial lipodystrophy, and recurrent fever.
C165258	Cellosaurus Disease Terminology	C99026	Protein S Deficiency Disease	Protein S Deficiency Disease	Protein S Deficiency	A rare thrombophilia disorder characterized by deficiency of protein S. It results in venous thromboembolism.
C165258	Cellosaurus Disease Terminology	C85032	Proteus Syndrome	Proteus Syndrome		A very rare congenital disorder characterized by the development of multiple cutaneous and subcutaneous lesions including lipomas, nevi, and vascular malformations, associated with partial gigantism or digital overgrowth.
C165258	Cellosaurus Disease Terminology	C85033	Prune Belly Syndrome	Prune Belly Syndrome	Eagle-Barrett Syndrome	A rare congenital syndrome occurring almost exclusively in males. It is characterized by partial or complete lack of the abdominal wall muscles, enlarged bladder, dilated ureters, hydronephrosis, and undescended testes.
C165258	Cellosaurus Disease Terminology	C118635	Pseudoachondroplasia	Pseudoachondroplasia		A rare, autosomal dominant inherited disorder caused by mutations in the COMP gene. It is characterized by short stature, short arms and legs, waddling walk, osteoarthritis, and limited range of motion at the elbows and hips.
C165258	Cellosaurus Disease Terminology	C129934	Pseudobulbar Palsy	Pseudobulbar Palsy		A condition affecting cranial nerves IX-XII resulting from upper motor neuron damage arising from a variety of causes.
C165258	Cellosaurus Disease Terminology	C3345	Pseudomyxoma Peritonei	Pseudomyxoma Peritonei	Gelatinous Ascites \|\| Mucinous Ascites \|\| Mucinous Carcinoma Peritonei \|\| Myxoma Peritonei \|\| Peritoneal Cavity Pseudomyxoma Peritonei	A usually well differentiated mucinous adenocarcinoma of the peritoneum. The majority of cases represent tumor spread from a primary low grade mucinous neoplasm of the appendix. Cases of pseudomyxoma peritonei associated with mucinous adenocarcinomas of the gallbladder, stomach, colon, rectum, pancreas, lung, breast, and fallopian tubes have also been reported. In the past, the ovary has been considered as a common primary site associated with pseudomyxoma peritonei. However, there is recent evidence based on immunohistochemistry and molecular genetic analysis suggesting that most cases of pseudomyxoma peritonei probably represent metastasis from an appendiceal and not ovarian primary.
C165258	Cellosaurus Disease Terminology	C125418	Pseudotrisomy 13 Syndrome	Pseudotrisomy 13 Syndrome	Holoprosencephaly-Polydactyly Syndrome	A rare syndrome likely inherited in an autosomal recessive pattern. It is characterized by holoprosencephaly, polydactyly, phenotypic features reminiscent of trisomy 13, and normal karyotype.
C165258	Cellosaurus Disease Terminology	C85036	Pseudoxanthoma Elasticum	Pseudoxanthoma Elasticum		A rare, progressive, autosomal recessive inherited disorder caused by mutations in the ABCC6 gene. It is characterized by calcification and fragmentation of the elastic fibers of the skin, retina, and cardiovascular system. Signs and symptoms include skin plaques and bumps, thickened skin, retinal hemorrhage and obstruction of the blood vessels.
C165258	Cellosaurus Disease Terminology	C3346	Psoriasis	Psoriasis		An autoimmune condition characterized by red, well-delineated plaques with silvery scales that are usually on the extensor surfaces and scalp. They can occasionally present with these manifestations: pustules; erythema and scaling in intertriginous areas, and erythroderma, that are often distributed on extensor surfaces and scalp.
C165258	Cellosaurus Disease Terminology	C78576	Psychosis	Psychosis		A mental disorder characterized by personality change, impaired functioning, and loss of touch with reality.
C165258	Cellosaurus Disease Terminology	C133744	Pterygium	Pterygium	Pterygium of Conjunctiva and Cornea	A wedge-shaped fibrovascular lesion arising from the bulbar conjunctiva and extending to the cornea. It is caused by chronic exposure to solar ultraviolet radiation, heat, and dust. It may cause severe vision loss. Studies have linked pterygium to neoplastic proliferation and suggest that it may be a stem cell disorder.
C165258	Cellosaurus Disease Terminology	C142825	Pulmonary Artery Intimal Sarcoma	Pulmonary Artery Intimal Sarcoma	Intimal Sarcoma of the Pulmonary Artery \|\| Pulmonary Artery Sarcoma \|\| Pulmonary Intimal Sarcoma	A sarcoma arising from the arterial intima of pulmonary arteries.
C165258	Cellosaurus Disease Terminology	C3732	Pulmonary Blastoma	Pulmonary Blastoma	Blastoma of Lung \|\| Blastoma of the Lung \|\| Lung Blastoma \|\| Pneumoblastoma	A biphasic tumor that consists of fetal adenocarcinoma (typically low-grade) and primitive mesenchymal stroma. Foci of specific mesenchymal differentiation (osteosarcoma, chondrosarcoma, or rhabdomyosarcoma) may also be present, but are not required for the diagnosis. Most patients are smokers. The prognosis is very poor. (WHO 2015)
C165258	Cellosaurus Disease Terminology	C3120	Pulmonary Hypertension	Pulmonary Hypertension		Increased pressure within the pulmonary circulation due to lung or heart disorder.
C165258	Cellosaurus Disease Terminology	C50715	Pulmonary Stenosis	Pulmonary Stenosis		Narrowing of the opening between the pulmonary artery and the right ventricle, usually at the level of the valve leaflets.
C165258	Cellosaurus Disease Terminology	C99068	Pulmonary Surfactant Metabolism Dysfunction-1	Pulmonary Surfactant Metabolism Dysfunction-1	Surfactant Protein B Deficiency	An autosomal recessive condition caused by mutation(s) in the SFTPB gene, encoding pulmonary surfactant-associated protein B. It is characterized by severe respiratory distress-like illness and responds poorly to exogenous administration of surfactant.
C165258	Cellosaurus Disease Terminology	C99070	Pulmonary Surfactant Metabolism Dysfunction-3	Pulmonary Surfactant Metabolism Dysfunction-3	Interstitial Lung Disease Due To ABCA3 Deficiency \|\| Surfactant Metabolism Dysfunction-3 \|\| Surfactant Protein ABCA3 Deficiency	An autosomal recessive condition caused by mutation(s) in the ABCA3 gene, encoding ATP-binding cassette sub-family A member 3. It is characterized by severe respiratory insufficiency or failure in neonates or infants.
C165258	Cellosaurus Disease Terminology	C99032	Pulmonary Valve Atresia with Intact Ventricular Septum	Pulmonary Valve Atresia with Intact Ventricular Septum		Pulmonary valve atresia not associated with a ventricular septal defect.
C165258	Cellosaurus Disease Terminology	C45691	Pyothorax-Associated Lymphoma	Pyothorax-Associated Lymphoma	Pleural Diffuse Large B-Cell Lymphoma Associated with Chronic Inflammation	An aggressive diffuse large B-cell lymphoma arising in the pleural cavity of patients with a history of long standing pyothorax. Patients present with chest and back pain, fever, productive cough, dyspnea, and hemoptysis.
C165258	Cellosaurus Disease Terminology	C4943	Pyriform Fossa Squamous Cell Carcinoma	Pyriform Fossa Squamous Cell Carcinoma	Epidermoid Carcinoma of Pyriform Fossa \|\| Epidermoid Carcinoma of Pyriform Sinus \|\| Epidermoid Carcinoma of the Pyriform Fossa \|\| Epidermoid Carcinoma of the Pyriform Sinus \|\| Pyriform Fossa Epidermoid Carcinoma \|\| Pyriform Sinus Epidermoid Carcinoma \|\| Pyriform Sinus Squamous Cell Carcinoma \|\| Squamous Cell Carcinoma of Pyriform Fossa \|\| Squamous Cell Carcinoma of Pyriform Sinus \|\| Squamous Cell Carcinoma of the Pyriform Fossa \|\| Squamous Cell Carcinoma of the Pyriform Sinus	A squamous cell carcinoma that arises from the pyriform sinus. Patients usually present with advanced stage disease and the prognosis is poor.
C165258	Cellosaurus Disease Terminology	C85040	Pyruvate Carboxylase Deficiency	Pyruvate Carboxylase Deficiency	Pyruvate Carboxylase Deficiency Disease	A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.
C165258	Cellosaurus Disease Terminology	C103968	Pyruvate Dehydrogenase Deficiency	Pyruvate Dehydrogenase Deficiency		A genetic disorder caused by mutations in the genes that are responsible for production of protein components of the pyruvate dehydrogenase complex. It may present with lactic acidosis. Signs and symptoms include developmental delays, seizures and hypotonia.
C165258	Cellosaurus Disease Terminology	C99037	Pyruvate Kinase Deficiency	Pyruvate Kinase Deficiency		An inherited metabolic disorder characterized by the deficiency of the erythrocyte enzyme pyruvate kinase. It results in the development of hemolytic anemia.
C165258	Cellosaurus Disease Terminology	C134950	Quail Fibrosarcoma	Quail Fibrosarcoma		Fibrosarcoma that occurs in a quail.
C165258	Cellosaurus Disease Terminology	C133741	Rabbit Cutaneous Lymphoma	Rabbit Cutaneous Lymphoma		Cutaneous lymphoma that occurs in a rabbit.
C165258	Cellosaurus Disease Terminology	C133740	Rabbit Fibroma	Rabbit Fibroma		Fibroma that occurs in a rabbit.
C165258	Cellosaurus Disease Terminology	C134989	Rabbit Neoplasm	Rabbit Neoplasm		A neoplasm occurring in a rabbit.
C165258	Cellosaurus Disease Terminology	C133739	Rabbit Oral Cavity Squamous Cell Carcinoma	Rabbit Oral Cavity Squamous Cell Carcinoma		Oral cavity squamous cell carcinoma that occurs in a rabbit.
C165258	Cellosaurus Disease Terminology	C134998	Rabbit Papilloma	Rabbit Papilloma	Shope Papilloma	A rabbit papilloma that is associated with infection by the Shope papilloma virus.
C165258	Cellosaurus Disease Terminology	C133738	Rabbit Plasmacytoma	Rabbit Plasmacytoma		Plasmacytoma that occurs in a rabbit.
C165258	Cellosaurus Disease Terminology	C133883	Rabbit Uterine Carcinoma	Rabbit Uterine Carcinoma		Uterine carcinoma that occurs in a rabbit.
C165258	Cellosaurus Disease Terminology	C27962	Radiation Toxicity	Radiation Toxicity	toxicity, radiation
C165258	Cellosaurus Disease Terminology	C134573	Rainbow Trout Hepatoma	Rainbow Trout Hepatoma	Oncorhynchus mykiss Hepatoma	Hepatoma that occurs in Oncorhynchus mykiss.
C165258	Cellosaurus Disease Terminology	C136977	Rainbow Trout Mesothelioma	Rainbow Trout Mesothelioma		A neoplasm arising from the mesothelium that occurs in Oncorhynchus mykiss.
C165258	Cellosaurus Disease Terminology	C35264	Rapidly Progressive Glomerulonephritis	Rapidly Progressive Glomerulonephritis		Inflammation of the glomeruli that is characterized by a rapid loss in renal function with glomerular crescent formation observed on biopsy; it is often seen in patients with concomitant autoimmune disease, like Goodpasture's syndrome or systemic lupus erythematosus.
C165258	Cellosaurus Disease Terminology	C125384	Rasmussen Subacute Encephalitis	Rasmussen Subacute Encephalitis	Chronic Focal Encephalitis \|\| Rasmussen Encephalitis	A rare, progressive chronic inflammation of a single cerebral hemisphere that usually affects children. It is characterized by severe seizures, loss of motor skills and speech, hemiparesis, and dementia.
C165258	Cellosaurus Disease Terminology	C121568	Rat Adrenal Gland Pheochromocytoma	Rat Adrenal Gland Pheochromocytoma	Rat Pheochromocytoma	A benign or malignant neuroendocrine neoplasm of the rat sympathetic nervous system that secretes catecholamines. It arises from the chromaffin cells of the rat adrenal medulla.
C165258	Cellosaurus Disease Terminology	C60369	Rat C-Cell Carcinoma	Rat C-Cell Carcinoma	Rat Medullary Thyroid Carcinoma
C165258	Cellosaurus Disease Terminology	C60372	Rat Cholangiocarcinoma	Rat Cholangiocarcinoma
C165258	Cellosaurus Disease Terminology	C60376	Rat Chondrosarcoma	Rat Chondrosarcoma
C165258	Cellosaurus Disease Terminology	C60377	Rat Choriocarcinoma	Rat Choriocarcinoma
C165258	Cellosaurus Disease Terminology	C60682	Rat Digestive System Neoplasms	Rat Digestive System Neoplasms
C165258	Cellosaurus Disease Terminology	C60395	Rat Endometrial Stromal Sarcoma	Rat Endometrial Stromal Sarcoma
C165258	Cellosaurus Disease Terminology	C135722	Rat Erythroleukemia	Rat Erythroleukemia		Erythroleukemia that occurs in a rat.
C165258	Cellosaurus Disease Terminology	C60403	Rat Fibrosarcoma	Rat Fibrosarcoma
C165258	Cellosaurus Disease Terminology	C60416	Rat Hepatocellular Carcinoma	Rat Hepatocellular Carcinoma
C165258	Cellosaurus Disease Terminology	C60419	Rat Histiocytic Sarcoma	Rat Histiocytic Sarcoma	Histiocytic Sarcoma of the Rat Mononuclear Phagocytic Tissue \|\| Malignant Rat Histiocytosis
C165258	Cellosaurus Disease Terminology	C121566	Rat Insulinoma	Rat Insulinoma		An insulin-producing neuroendocrine tumor arising from beta cells of the rat pancreas.
C165258	Cellosaurus Disease Terminology	C64066	Rat Large Granular Lymphocyte Leukemia	Rat Large Granular Lymphocyte Leukemia
C165258	Cellosaurus Disease Terminology	C60426	Rat Leiomyoma	Rat Leiomyoma	Leiomyoma of the Rat Soft Tissue \|\| Rat Soft Tissue Leiomyoma
C165258	Cellosaurus Disease Terminology	C60428	Rat Leukemia	Rat Leukemia
C165258	Cellosaurus Disease Terminology	C60429	Rat Leydig Cell Adenoma	Rat Leydig Cell Adenoma
C165258	Cellosaurus Disease Terminology	C60434	Rat Liposarcoma	Rat Liposarcoma
C165258	Cellosaurus Disease Terminology	C179055	Rat Lymphosarcoma	Rat Lymphosarcoma		Lymphosarcoma occurring in a rat.
C165258	Cellosaurus Disease Terminology	C60436	Rat Malignant Astrocytoma	Rat Malignant Astrocytoma
C165258	Cellosaurus Disease Terminology	C60442	Rat Malignant Fibrous Histiocytoma	Rat Malignant Fibrous Histiocytoma
C165258	Cellosaurus Disease Terminology	C64069	Rat Malignant Glioma	Rat Malignant Glioma
C165258	Cellosaurus Disease Terminology	C60448	Rat Malignant Lymphoma	Rat Malignant Lymphoma
C165258	Cellosaurus Disease Terminology	C60451	Rat Malignant Melanoma	Rat Malignant Melanoma
C165258	Cellosaurus Disease Terminology	C124250	Rat Malignant Meningioma	Rat Malignant Meningioma		Malignant meningioma occurring in a rat. Spontaneously occurring meningiomas in the rat are histologically similar to human meningiomas.
C165258	Cellosaurus Disease Terminology	C60453	Rat Malignant Mesothelioma	Rat Malignant Mesothelioma
C165258	Cellosaurus Disease Terminology	C60461	Rat Malignant Oligodendroglioma	Rat Malignant Oligodendroglioma
C165258	Cellosaurus Disease Terminology	C125415	Rat Malignant Peripheral Nerve Sheath Tumor	Rat Malignant Peripheral Nerve Sheath Tumor		A malignant peripheral nerve sheath tumor occurring in a rat.
C165258	Cellosaurus Disease Terminology	C60465	Rat Malignant Schwannoma	Rat Malignant Schwannoma
C165258	Cellosaurus Disease Terminology	C60468	Rat Malignant Teratoma	Rat Malignant Teratoma
C165258	Cellosaurus Disease Terminology	C60470	Rat Malignant Thymoma	Rat Malignant Thymoma
C165258	Cellosaurus Disease Terminology	C125416	Rat Multiple Myeloma	Rat Multiple Myeloma	Rat Plasma Cell Myeloma	Plasma cell myeloma occurring in a rat.
C165258	Cellosaurus Disease Terminology	C134942	Rat Neoplasms	Rat Neoplasms		A neoplasm arising in a rat.
C165258	Cellosaurus Disease Terminology	C60478	Rat Nephroblastoma	Rat Nephroblastoma
C165258	Cellosaurus Disease Terminology	C121567	Rat Neuroblastoma	Rat Neuroblastoma		A tumor of the rat that arises from nerve tissue outside of the central nervous system.
C165258	Cellosaurus Disease Terminology	C60487	Rat Osteosarcoma	Rat Osteosarcoma
C165258	Cellosaurus Disease Terminology	C129858	Rat Ovarian Adenocarcinoma	Rat Ovarian Adenocarcinoma		Adenocarcinoma that arises from the ovary of a rat.
C165258	Cellosaurus Disease Terminology	C132194	Rat Pituitary Gland Neoplasm	Rat Pituitary Gland Neoplasm	Rat Pituitary Gland Tumor	A benign or malignant neoplasm that affects the pituitary gland of a rat.
C165258	Cellosaurus Disease Terminology	C60504	Rat Rhabdomyosarcoma	Rat Rhabdomyosarcoma
C165258	Cellosaurus Disease Terminology	C60505	Rat Sarcoma	Rat Sarcoma
C165258	Cellosaurus Disease Terminology	C60511	Rat Squamous Cell Carcinoma	Rat Squamous Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C179056	Rat Thyroid Neoplasm	Rat Thyroid Neoplasm		A thyroid neoplasm occurring in a rat.
C165258	Cellosaurus Disease Terminology	C198598	Rat Tunica Vaginalis Sarcomatoid Mesothelioma	Rat Tunica Vaginalis Sarcomatoid Mesothelioma		Tunica vaginalis sarcomatoid mesothelioma occurring in a rat.
C165258	Cellosaurus Disease Terminology	C60691	Rat Urinary System Neoplasms	Rat Urinary System Neoplasms
C165258	Cellosaurus Disease Terminology	C60530	Rat Yolk Sac Carcinoma	Rat Yolk Sac Carcinoma
C165258	Cellosaurus Disease Terminology	C134999	Rattlesnake Fibroma	Rattlesnake Fibroma		A fibroma that occurs in a rattlesnake.
C165258	Cellosaurus Disease Terminology	C9383	Rectal Adenocarcinoma	Rectal Adenocarcinoma	Adenocarcinoma of Rectum \|\| Adenocarcinoma of the Rectum	An adenocarcinoma arising from the rectum. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectal adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C4640	Rectal Melanoma	Rectal Melanoma	Malignant Melanoma of Rectum \|\| Malignant Melanoma of the Rectum \|\| Melanoma of Rectum \|\| Melanoma of the Rectum \|\| Rectal Malignant Melanoma	An aggressive malignant melanocytic neoplasm that arises from the rectum.
C165258	Cellosaurus Disease Terminology	C7973	Rectal Mucinous Adenocarcinoma	Rectal Mucinous Adenocarcinoma	Colloid Adenocarcinoma of Rectum \|\| Colloid Adenocarcinoma of the Rectum \|\| Colloidal Adenocarcinoma of Rectum \|\| Colloidal Adenocarcinoma of the Rectum \|\| Mucinous Adenocarcinoma of Rectum \|\| Mucinous Adenocarcinoma of the Rectum \|\| Rectal Colloid Adenocarcinoma \|\| Rectal Colloidal Adenocarcinoma	An invasive adenocarcinoma of the rectum characterized by the presence of pools of extracellular mucin. Malignant glandular epithelial cells are present in the mucin collections. Mucin constitutes more than 50% of the lesion.
C165258	Cellosaurus Disease Terminology	C135213	Rectal Neuroendocrine Tumor	Rectal Neuroendocrine Tumor	Rectal Well Differentiated Neuroendocrine Neoplasm \|\| Rectal Well-Differentiated Neuroendocrine Neoplasm	A well-differentiated, low-, intermediate-, or high-grade neoplasm with neuroendocrine differentiation that arises from the rectum.
C165258	Cellosaurus Disease Terminology	C60639	Rectal Small Cell Carcinoma	Rectal Small Cell Neuroendocrine Carcinoma	Rectal Small Cell Carcinoma	An aggressive, high-grade, and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the rectum. It is characterized by the presence of malignant small cells.
C165258	Cellosaurus Disease Terminology	C43584	Rectosigmoid Adenocarcinoma	Rectosigmoid Adenocarcinoma		An adenocarcinoma arising from the rectosigmoid area. It is more frequently seen in populations with a Western type diet and in patients with a history of chronic inflammatory bowel disease. Signs and symptoms include intestinal bleeding, anemia, and change in bowel habits. According to the degree of cellular differentiation, rectosigmoid adenocarcinomas are divided into well, moderately, and poorly differentiated. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma.
C165258	Cellosaurus Disease Terminology	C7421	Rectosigmoid Carcinoma	Rectosigmoid Carcinoma	Rectosigmoid Cancer	A malignant epithelial neoplasm that arises from the rectosigmoid area and invades through the muscularis mucosa into the submucosa. The vast majority are adenocarcinomas. About 50% of colorectal carcinomas occur in the rectosigmoid area.
C165258	Cellosaurus Disease Terminology	C7899	Recurrent Bladder Carcinoma	Recurrent Bladder Carcinoma	Bladder Cancer, Recurrent \|\| Bladder Carcinoma Recurrent \|\| Recurrent Bladder Cancer \|\| Recurrent Cancer of Bladder \|\| Recurrent Cancer of Urinary Bladder \|\| Recurrent Cancer of the Bladder \|\| Recurrent Cancer of the Urinary Bladder \|\| Recurrent Urinary Bladder Cancer \|\| Relapsed Bladder Cancer \|\| Relapsed Cancer of Bladder \|\| Relapsed Cancer of Urinary Bladder \|\| Relapsed Cancer of the Bladder \|\| Relapsed Cancer of the Urinary Bladder \|\| Relapsed Urinary Bladder Cancer	The reemergence of bladder carcinoma after a period of remission.
C165258	Cellosaurus Disease Terminology	C8795	Recurrent Undifferentiated Pleomorphic Sarcoma	Recurrent Undifferentiated Pleomorphic Sarcoma	Recurrent Unclassified Pleomorphic Sarcoma \|\| Recurrent Unclassified Pleomorphic Sarcoma (Formerly Recurrent "MFH") \|\| Recurrent Unclassified Pleomorphic Sarcoma (Formerly Recurrent "Malignant Fibrous Histiocytoma")	Reemergence of undifferentiated pleomorphic sarcoma after a period of remission.
C165258	Cellosaurus Disease Terminology	C2872	Refractory Anemia	Refractory Anemia	Aregenerative Anemia	A myelodysplastic syndrome characterized mainly by dysplasia of the erythroid series. Refractory anemia is uncommon. It is primarily a disease of older adults. The median survival exceeds 5 years. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C85043	Refsum Disease	Refsum Disease		A rare autosomal recessive condition caused by mutation(s) in the PHYH gene, encoding phytanoyl-CoA dioxygenase, peroxisomal. It is characterized by abnormalities in the breakdown of phytanic acid and impaired growth of myelin sheaths. Signs and symptoms include neurologic damage, cerebellar degeneration, and neuropathy.
C165258	Cellosaurus Disease Terminology	C157268	Relapsing Polychondritis	Relapsing Polychondritis		A rare autoimmune disorder characterized by recurrent episodes of inflammation of cartilage and other connective tissues.
C165258	Cellosaurus Disease Terminology	C165675	Relapsing-Remitting Multiple Sclerosis	Relapsing-Remitting Multiple Sclerosis		A type of multiple sclerosis characterized by intermittent flare-ups with a return to few or no symptoms.
C165258	Cellosaurus Disease Terminology	C99041	Renal Agenesis	Renal Agenesis		A congenital abnormality characterized by the absence of one or both kidneys.
C165258	Cellosaurus Disease Terminology	C9385	Renal Cell Carcinoma	Renal Cell Carcinoma	Adenocarcinoma of Kidney \|\| Adenocarcinoma of the Kidney \|\| Kidney Adenocarcinoma \|\| Renal Cell Adenocarcinoma \|\| Renal Cell Cancer \|\| Renal Cell Carcinoma, Stage Unspecified	A carcinoma arising from the renal parenchyma. There is a strong correlation between cigarette smoking and the development of renal cell carcinoma. The clinical presentation includes : hematuria, flank pain and a palpable lumbar mass. A high percentage of renal cell carcinomas are diagnosed when an ultrasound is performed for other purposes. Radical nephrectomy is the standard intervention procedure. Renal cell carcinoma is generally considered to be resistant to radiation treatment and chemotherapy.
C165258	Cellosaurus Disease Terminology	C27891	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions	TFE3-Rearranged Renal Cell Carcinoma	Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions \|\| Xp11 Translocation Renal Cell Carcinoma \|\| Xp11.2 Translocation-Related Renal Cell Carcinoma	A group of renal cell carcinomas characterized by the presence of different translocations involving the chromosome Xp11.2. These translocations result in the creation of gene fusions involving the TFE3 gene. Patients are usually children and young adults. Morphologically, the malignant epithelial cells form papillary patterns.
C165258	Cellosaurus Disease Terminology	C123018	Renal Cysts and Diabetes Syndrome	Renal Cysts and Diabetes Syndrome	HNF1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease \|\| Hepatocyte Nuclear Factor 1-Beta-Associated Monogenic Diabetes \|\| Maturity Onset Diabetes of the Young, Type 5	Monogenic diabetes caused by inactivating mutation(s) in the gene HNF1B, encoding hepatocyte nuclear factor 1-beta. In addition to diabetes, this condition may be associated with renal cysts and urogenital anomalies. Homozygous HNF1B mutations result in permanent neonatal diabetes.
C165258	Cellosaurus Disease Terminology	C6142	Renal Pelvis Carcinoma	Renal Pelvis Carcinoma	Carcinoma of Kidney Pelvis \|\| Carcinoma of Renal Pelvis \|\| Carcinoma of the Kidney Pelvis \|\| Carcinoma of the Renal Pelvis \|\| Kidney Pelvis Carcinoma	A carcinoma arising in the renal pelvis. The majority of renal pelvis carcinomas are transitional cell and less frequently squamous cell carcinomas.
C165258	Cellosaurus Disease Terminology	C7732	Renal Pelvis Squamous Cell Carcinoma	Renal Pelvis Squamous Cell Carcinoma	Epidermoid Carcinoma of Kidney Pelvis \|\| Epidermoid Carcinoma of Renal Pelvis \|\| Epidermoid Carcinoma of the Kidney Pelvis \|\| Epidermoid Carcinoma of the Renal Pelvis \|\| Kidney Pelvis Epidermoid Carcinoma \|\| Kidney Pelvis Squamous Cell Carcinoma \|\| Renal Pelvis Epidermoid Carcinoma \|\| Squamous Cell Carcinoma of Kidney Pelvis \|\| Squamous Cell Carcinoma of Renal Pelvis \|\| Squamous Cell Carcinoma of the Kidney Pelvis \|\| Squamous Cell Carcinoma of the Renal Pelvis	Squamous cell carcinoma that affects the renal pelvis.
C165258	Cellosaurus Disease Terminology	C7355	Renal Pelvis Urothelial Carcinoma	Renal Pelvis Urothelial Carcinoma	Renal Pelvis Transitional Cell Carcinoma \|\| Transitional Cell Carcinoma of Renal Pelvis \|\| Transitional Cell Carcinoma of the Renal Pelvis \|\| Urothelial Cell Carcinoma of Renal Pelvis \|\| Urothelial Cell Carcinoma of the Renal Pelvis	A carcinoma that arises from the urothelial lining of the renal pelvis. It is associated with tobacco use and usually presents with gross or microscopic hematuria. Urothelial carcinomas of the renal pelvis are usually of higher grade and higher stage compared to bladder urothelial carcinomas.
C165258	Cellosaurus Disease Terminology	C165533	Renpenning Syndrome	Renpenning Syndrome	Mental Retardation, X-Linked, Renpenning Type	An X-linked recessive disorder caused by mutation(s) in the PQBP1 gene, encoding polyglutamine-binding protein 1. It is characterized by moderate to severe intellectual disability, developmental delay and characteristic dysmorphic features, which may include short stature, microcephaly, and a narrow face.
C165258	Cellosaurus Disease Terminology	C62798	Restrictive Cardiomyopathy	Restrictive Cardiomyopathy		A type of heart disorder referring to the inability of the ventricles to fill with blood because the myocardium (heart muscle) stiffens and looses its flexibility. Causes include replacement of the myocardium with scar tissue, abnormal cellular infiltration of the myocardium, or deposition of a substance (e.g., amyloid) in the myocardium.
C165258	Cellosaurus Disease Terminology	C192089	Retinal Cone Dystrophy 3B	Retinal Cone Dystrophy 3B		An autosomal recessive condition caused by mutation(s) in the KCNV2 gene, encoding potassium voltage-gated channel subfamily V member 2. It is characterized by photophobia, progressive loss of visual acuity and reduced color discrimination.
C165258	Cellosaurus Disease Terminology	C168587	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	Retinal Dystrophy with Inner Retinal Dysfunction and Ganglion Cell Abnormalities	RDGCA	An autosomal dominant condition caused by mutation(s) in the ITM2B gene, encoding integral membrane protein 2B. It is characterized by progressive loss of central vision, and inner retinal dystrophy with ganglion cell abnormalities.
C165258	Cellosaurus Disease Terminology	C164155	Retinal Dystrophy with or without Extraocular Anomalies	Retinal Dystrophy with or without Extraocular Anomalies		An autosomal recessive condition caused by mutation(s) in the RCBTB1 gene, encoding RCC1 and BTB domain-containing protein 1. It is characterized by severe retinal dystrophy. Associated extraocular abnormalities may or may not be present.
C165258	Cellosaurus Disease Terminology	C85045	Retinitis Pigmentosa	Retinitis Pigmentosa		A rare inherited retinal dystrophy disorder characterized by spots of black bone-spicule pigmentation of the retinal pigment epithelium. It is manifested with decreased vision in low light or in the night, followed by decreased peripheral vision, and, eventual decreased central vision. It may lead to blindness.
C165258	Cellosaurus Disease Terminology	C7541	Retinoblastoma	Retinoblastoma		A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma.
C165258	Cellosaurus Disease Terminology	C8172	Retromolar Trigone Squamous Cell Carcinoma	Retromolar Trigone Squamous Cell Carcinoma	Squamous Cell Carcinoma of Retromolar Trigone \|\| Squamous Cell Carcinoma of the Retromolar Trigone	A squamous cell carcinoma that arises from the retromolar trigone. Pain, often radiating to the ear, is the presenting symptom. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C27904	Retroperitoneal Leiomyosarcoma	Retroperitoneal Leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the retroperitoneum. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C75488	Rett Syndrome	Rett Syndrome		A progressive neurologic disorder caused by mutations in the MECP2 gene on chromosome X. It almost exclusively affects girls. It is characterized by language and learning difficulties, poor communication skills, and repetitive hand motions. Other signs and symptoms include microcephaly, scoliosis, breathing abnormalities, and sleep disturbances.
C165258	Cellosaurus Disease Terminology	C176903	Rett Syndrome, Congenital Variant	Rett Syndrome, Congenital Variant		An autosomal dominant condition caused by mutation(s) in the FOXG1 gene, encoding forkhead box protein G1. It is the most severe form of Rett syndrome, and typically manifests within the first three months of life.
C165258	Cellosaurus Disease Terminology	C34983	Reye Syndrome	Reye Syndrome	Reye's Syndrome	An acute and potentially fatal metabolic disorder characterized by cerebral edema, fatty liver and hypoglycemia. It occurs primarily in children and has been associated with the use of aspirin for the treatment of viral infections. However, it can also occur in the absence of aspirin use.
C165258	Cellosaurus Disease Terminology	C3808	Rhabdoid Tumor	Rhabdoid Tumor		An aggressive malignant embryonal neoplasm usually occurring during childhood. It is characterized by the presence of large cells with abundant cytoplasm, large eccentric nucleus, and a prominent nucleolus and it is associated with abnormalities of chromosome 22. It can arise from the central nervous system, kidney, and the soft tissues. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C8715	Rhabdoid Tumor of the Kidney	Rhabdoid Tumor of the Kidney	Kidney Rhabdoid Tumor \|\| Malignant Rhabdoid Tumor of Kidney \|\| Malignant Rhabdoid Tumor of the Kidney \|\| Renal Rhabdoid Neoplasm \|\| Renal Rhabdoid Tumor \|\| Rhabdoid Neoplasm of Kidney \|\| Rhabdoid Neoplasm of the Kidney \|\| Rhabdoid Tumor of the Kidney (RTK) \|\| Rhabdoid Tumour of Kidney \|\| Rhabdoid Tumour of the Kidney	A rhabdoid tumor that arises from the kidney. It occurs in children and it is associated with abnormalities of chromosome 22. It is characterized by the presence of cells with a large eccentric nucleus, prominent nucleolus, and abundant cytoplasm. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C3359	Rhabdomyosarcoma	Rhabdomyosarcoma		A rare aggressive malignant mesenchymal neoplasm arising from skeletal muscle. It usually occurs in children and young adults. Only a small percentage of tumors arise in the skeletal muscle of the extremities. The majority arise in other anatomic sites.
C165258	Cellosaurus Disease Terminology	C134783	Rhesus Monkey Lymphoma	Rhesus Monkey Lymphoma		Lymphoma that occurs in a rhesus monkey.
C165258	Cellosaurus Disease Terminology	C134784	Rhesus Monkey Mammary Tumor	Rhesus Monkey Mammary Tumor		A mammary neoplasm that occurs in a rhesus monkey.
C165258	Cellosaurus Disease Terminology	C2884	Rheumatoid Arthritis	Rheumatoid Arthritis		A chronic, systemic autoimmune disorder characterized by inflammation in the synovial membranes and articular surfaces. It manifests primarily as a symmetric, erosive polyarthritis that spares the axial skeleton and is typically associated with the presence in the serum of rheumatoid factor.
C165258	Cellosaurus Disease Terminology	C85047	Rhizomelic Chondrodysplasia Punctata	Rhizomelic Chondrodysplasia Punctata		An autosomal recessive inherited peroxisomal disorder caused by mutations in the PEX7, DHAPAT, and AGP genes. It is characterized by short limbs, bones and cartilage abnormalities, congenital cataracts, and severe mental retardation.
C165258	Cellosaurus Disease Terminology	C131001	Rieger Syndrome	Rieger Syndrome		A congenital condition associated with mutation(s) in the PITX2 and/or FOXC1 genes, encoding pituitary homeobox 2 and forkhead box protein C1, respectively. The condition is characterized by anterior segment dysgenesis of the eye(s), iris and corneal anomalies, glaucoma, craniofacial anomalies, hypodontia, and pituitary hypoplasia with hypopituitarism, and hypospadius.
C165258	Cellosaurus Disease Terminology	C126691	Rigid Spine Muscular Dystrophy 1	Rigid Spine Muscular Dystrophy 1	RSMD1 \|\| RSS \|\| Rigid Spine Syndrome	An inherited muscular dystrophy caused by mutations in the SEPN1 gene. It is characterized by severe limitation in flexion of the dorsolumbar and cervical spine, due to contracture of the spinal extensors. It leads to loss of movement of the spine and the thoracic cage.
C165258	Cellosaurus Disease Terminology	C179703	Ring Chromosome 13 Syndrome	Ring Chromosome 13 Syndrome		A rare condition in which the two arms of chromosome 13 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C185638	Ring Chromosome 14 Syndrome	Ring Chromosome 14 Syndrome		A rare condition in which the two arms of chromosome 14 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C175706	Ring Chromosome 18 Syndrome	Ring Chromosome 18 Syndrome		A rare condition in which the two arms of chromosome 18 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C169001	Ring Chromosome 20 Syndrome	Ring Chromosome 20 Syndrome		A rare condition in which the two arms of chromosome 20 are fused resulting in a ring chromosome. It is characterized by recurrent seizures with an onset in childhood. Additional features my include microcephaly and short stature.
C165258	Cellosaurus Disease Terminology	C186278	Ring Chromosome 21 Syndrome	Ring Chromosome 21 Syndrome		A rare condition in which the two arms of chromosome 21 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C179702	Ring Chromosome 22 Syndrome	Ring Chromosome 22 Syndrome		A rare condition in which the two arms of chromosome 22 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C175705	Ring Chromosome 8 Syndrome	Ring Chromosome 8 Syndrome		A rare condition in which the two arms of chromosome 8 are fused resulting in a ring chromosome. Ring chromosome syndromes typically are characterized by developmental delay, intellectual disability, microcephaly, and dysmorphic facial features.
C165258	Cellosaurus Disease Terminology	C148325	Rippling Muscle Disease 2	Rippling Muscle Disease 2		An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.
C165258	Cellosaurus Disease Terminology	C126326	Roberts Syndrome	Roberts Syndrome		A rare, autosomal recessive inherited syndrome caused by mutations in the ESCO2 gene. It is characterized by limb and facial abnormalities and slow growth. Intellectual impairment occurs in approximately half of the affected individuals.
C165258	Cellosaurus Disease Terminology	C188150	Robertsonian Translocation Down Syndrome	Robertsonian Translocation Down Syndrome		Down syndrome caused by translocation of the long arm of chromosome 21, resulting in trisomy 21.
C165258	Cellosaurus Disease Terminology	C4681	Roberts-SC Phocomelia Syndrome	Roberts-SC Phocomelia Syndrome	Hypomelia Hypotrichosis Facial Hemangioma Syndrome \|\| Phocomelia-Pseudothalidomide Syndrome \|\| Pseudothalidomide Syndrome \|\| SC Phocomelia Syndrome	A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the ESCO2 gene. Clinical signs at birth include multiple limb and facial abnormalities. It is considered to be a mild variant of Roberts syndrome.
C165258	Cellosaurus Disease Terminology	C3335	Rothmund-Thomson Syndrome	Rothmund-Thomson Syndrome	Rothmund Thomson Syndrome	An autosomal recessive inherited syndrome usually caused by mutations in the RECQL4 gene. It is characterized by poikilodermatous skin changes, sparse hair, cataracts, small stature, skeletal abnormalities, and an increased predisposition to cancer, particularly osteosarcoma.
C165258	Cellosaurus Disease Terminology	C75466	Rubinstein-Taybi Syndrome	Rubinstein-Taybi Syndrome		A rare genetic syndrome mapped to chromosome 16p13.3 and associated with mutations in the CREBBP gene. It is characterized by mental and growth retardation, distinctive facial features (prominent nose, low-set ears, microcephaly, and small mouth), and broad thumbs and great toes. Patients are at an increased risk of developing benign and malignant neoplasms, including nervous system neoplasms and malignant lymphoproliferative disorders.
C165258	Cellosaurus Disease Terminology	C153290	Rubinstein-Taybi Syndrome Type 1	Rubinstein-Taybi Syndrome Type 1		The most common form of Rubinstein-Taybi syndrome, caused by a mutation in the CREB binding protein (CREBBP) gene.
C165258	Cellosaurus Disease Terminology	C153291	Rubinstein-Taybi Syndrome Type 2	Rubinstein-Taybi Syndrome Type 2		Rubinstein-Taybi syndrome caused by a mutation in the EP300 gene on chromosome 22q13, which presents with a mild phenotype associated with less severe facial dysmorphism and better cognitive function.
C165258	Cellosaurus Disease Terminology	C85068	Russell-Silver Syndrome	Russell-Silver Syndrome	Russell-Silver Dwarfism \|\| Silver-Russell Dwarfism \|\| Silver-Russell Syndrome	A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present.
C165258	Cellosaurus Disease Terminology	C129927	Sacral Chordoma	Sacral Chordoma		A chordoma that arises from the sacral area.
C165258	Cellosaurus Disease Terminology	C99055	Sacrococcygeal Teratoma	Sacrococcygeal Teratoma	Pre-Sacral Teratoma \|\| Presacral Teratoma	A teratoma that is found at the base of the coccyx. It is the most commonly seen tumor in newborns.
C165258	Cellosaurus Disease Terminology	C5904	Salivary Duct Carcinoma	Salivary Duct Carcinoma	Carcinoma of Salivary Duct \|\| Carcinoma of the Salivary Duct \|\| High Grade Salivary Duct Carcinoma	An aggressive, high grade adenocarcinoma that arises from the salivary glands. It usually affects elderly males and presents as a rapidly enlarging mass. It metastasizes to regional lymph nodes and distant anatomic sites.
C165258	Cellosaurus Disease Terminology	C8026	Salivary Gland Adenoid Cystic Carcinoma	Salivary Gland Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma of Salivary Gland \|\| Adenoid Cystic Carcinoma of the Salivary Gland	An adenoid cystic carcinoma arising from the salivary gland. It is characterized by the presence of epithelial and myoepithelial cells forming tubular, cribriform, and solid patterns. It usually presents as a slow growing mass. Patients may experience pain because of the tumor propensity for perineural invasion. The tumor may follow an aggressive clinical course with recurrences and mestastases to distant sites including lungs, bones, brain, and liver.
C165258	Cellosaurus Disease Terminology	C40410	Salivary Gland Carcinoma ex Pleomorphic Adenoma	Salivary Gland Carcinoma ex Pleomorphic Adenoma		A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.
C165258	Cellosaurus Disease Terminology	C35701	Salivary Gland Epithelial-Myoepithelial Carcinoma	Salivary Gland Epithelial-Myoepithelial Carcinoma	Salivary Gland Epithelial Myoepithelial Carcinoma	A carcinoma that arises from the salivary glands, most often the parotid gland. It presents as a slow growing and painless mass. It is characterized by the presence of duct-like structures lined by two layers of cells, an inner layer composed of epithelial-type cells and an outer layer composed of clear, myoepithelial-type cells.
C165258	Cellosaurus Disease Terminology	C5908	Salivary Gland Mucoepidermoid Carcinoma	Salivary Gland Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma of Salivary Gland \|\| Mucoepidermoid Carcinoma of the Salivary Gland	A carcinoma that arises from the salivary glands. It is the most common primary carcinoma of the salivary glands and usually presents as a firm and painless mass. It is characterized by the presence of squamous cells, mucus producing cells, and cells of intermediate type. The majority of cases have a favorable outcome.
C165258	Cellosaurus Disease Terminology	C5978	Salivary Gland Myoepithelioma	Salivary Gland Myoepithelioma	Benign Myoepithelioma of the Salivary Gland \|\| Benign Salivary Gland Myoepithelioma	A rare benign tumor composed of sheets and islands of spindle, plasmacytoid, epithelioid, and clear cells that exhibit myoepithelial but not ductal differentiation. The average age of patients has been reported as 44 years. Clinically, these tumors present as asymptomatic masses. Discrimination between myoepithelioma and myoepithelial carcinoma is based primarily on the infiltrative growth of the latter.
C165258	Cellosaurus Disease Terminology	C40409	Salivary Gland Pleomorphic Adenoma	Salivary Gland Pleomorphic Adenoma	Benign Mixed Salivary Gland Neoplasm \|\| Benign Mixed Salivary Gland Tumor \|\| Benign Mixed Salivary Neoplasm \|\| Benign Mixed Salivary Tumor	A benign, slow-growing tumor composed of cells that demonstrate both epithelial and mesenchymal differentiation. It is the most common neoplasm of salivary gland origin, and mostly occurs in the parotid gland. The average age of patients has been reported to be 43 years; women are more often affected than men. The malignant change rate has been estimated to be 6%. The malignant counterpart is carcinoma ex pleomorphic adenoma.
C165258	Cellosaurus Disease Terminology	C206525	Salt and Pepper Developmental Regression Syndrome	Salt and Pepper Developmental Regression Syndrome	GM3 Synthase Deficiency	An autosomal recessive condition caused by mutation(s) in the ST3GAL5 gene, encoding lactosylceramide alpha-2,3-sialyltransferase. It is characterized by refractory and recurrent seizures with an onset in infancy and delayed psychomotor development and or developmental regression.
C165258	Cellosaurus Disease Terminology	C85052	Sandhoff Disease	Sandhoff Disease		An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme hexosaminidase, resulting in the accumulation of gangliosides in the central nervous system and other body tissues. Signs and symptoms include progressive motor and mental deterioration, early blindness, macrocephaly, seizures, and hepatosplenomegaly.
C165258	Cellosaurus Disease Terminology	C34995	Sarcoidosis	Sarcoidosis		An idiopathic inflammatory disorder characterized by the formation of non-necrotizing epithelioid granulomas which contain giant cells. It usually affects the lungs, lymph nodes, liver, and skin. Cardiac involvement is also possible.
C165258	Cellosaurus Disease Terminology	C9118	Sarcoma	Sarcoma	Sarcoma of Soft Tissue and Bone \|\| Sarcoma of the Soft Tissue and Bone	A usually aggressive malignant neoplasm of the soft tissue or bone. It arises from muscle, fat, fibrous tissue, bone, cartilage, and blood vessels. Sarcomas occur in both children and adults. The prognosis depends largely on the degree of differentiation (grade) of the neoplasm. Representative subtypes are liposarcoma, leiomyosarcoma, osteosarcoma, and chondrosarcoma.
C165258	Cellosaurus Disease Terminology	C21840	Sarcomas of the Mouse Skin and Subcutis	Sarcomas of the Mouse Skin and Subcutis
C165258	Cellosaurus Disease Terminology	C43627	Sarcomatoid Hepatocellular Carcinoma	Hepatocellular Sarcomatoid Carcinoma	Sarcomatoid Hepatocellular Carcinoma \|\| Sarcomatous Hepatocellular Carcinoma	A morphologic variant of hepatocellular carcinoma characterized by the presence of malignant spindle cells or atypical giant cells.
C165258	Cellosaurus Disease Terminology	C27893	Sarcomatoid Renal Cell Carcinoma	Sarcomatoid Renal Cell Carcinoma	Renal Cell Carcinoma, Sarcomatoid	A high grade carcinoma of the kidney. It is not a distinct clinicopathological entity and includes a diverse group of renal cell carcinomas which have been transformed from a lower to a higher grade.
C165258	Cellosaurus Disease Terminology	C61265	Scheie Syndrome	Scheie Syndrome		An autosomal recessive disorder representing the milder form of mucopolysaccharidosis type I. It is characterized by deficiency of the enzyme alpha-L-iduronidase. Signs and symptoms include broad mouth with full lips, cloudy cornea which may lead to blindness, stiff joints, and hirsutism.
C165258	Cellosaurus Disease Terminology	C135087	Schimke Immunoosseous Dysplasia	Schimke Immunoosseous Dysplasia	Schimke Immuno-Osseous Dysplasia	An autosomal recessive condition caused by mutation(s) in the SMARCAL1 gene, encoding SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1. It is characterized by short stature, intrauterine growth restriction, microdontia, depressed nasal bridge, skeletal dysplasia, immune complex nephritis and immune deficiency.
C165258	Cellosaurus Disease Terminology	C129308	Schinzel-Giedion Midface-Retraction Syndrome	Schinzel-Giedion Midface-Retraction Syndrome		An autosomal dominant disorder associated with mutation(s) in the SETBP1 gene, encoding SET-binding protein. It is characterized by unique facial features, including midface hypoplasia, skeletal abnormalities, and mental retardation.
C165258	Cellosaurus Disease Terminology	C99056	Schizencephaly	Schizencephaly		A rare developmental abnormality characterized by the presence of clefs in the cerebral hemispheres. The abnormality may involve one or both cerebral hemispheres. Signs and symptoms include developmental delays, mental retardation, paralysis, presence of a small head, and seizures.
C165258	Cellosaurus Disease Terminology	C3362	Schizophrenia	Schizophrenia		A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality.
C165258	Cellosaurus Disease Terminology	C150555	Schuurs-Hoeijmakers Syndrome	Schuurs-Hoeijmakers Syndrome		An autosomal dominant condition caused by mutation(s) in the PACS1 gene, encoding phosphofurin acidic cluster sorting protein 1. It is characterized by intellectual developmental delay, craniofacial abnormalities, as well as other variable congenital abnormalities.
C165258	Cellosaurus Disease Terminology	C3269	Schwannoma	Schwannoma	Benign Neurilemmoma \|\| Benign Schwannoma \|\| Neurilemmoma \|\| Schwannoma (WHO Grade I)	A benign, usually encapsulated slow growing tumor composed of Schwann cells. It affects peripheral and cranial nerves. It recurs infrequently and only rare cases associated with malignant transformation have been reported.
C165258	Cellosaurus Disease Terminology	C188213	Schwannoma of the Seventh Cranial Nerve	Schwannoma of the Seventh Cranial Nerve	Facial Nerve Neurilemmoma \|\| Facial Nerve Schwannoma \|\| Neurilemmoma of the Seventh Cranial Nerve \|\| Schwannoma of the Facial Nerve	A benign, usually encapsulated slow growing tumor composed of Schwann cells affecting the seventh cranial nerve.
C165258	Cellosaurus Disease Terminology	C6557	Schwannomatosis	Schwannomatosis	Neurilemmomatosis \|\| Neurinomatosis	Rare genetic disorder caused by mutations in the SMARCB1 and LZTR1 genes. It is characterized by the presence of multiple Schwannomas.
C165258	Cellosaurus Disease Terminology	C35008	Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	Myotonic Chondrodystrophy	A classification for rare genetic syndromes with an autosomal recessive pattern of inheritance. Clinical features include muscle stiffness and weakness, facial and skeletal abnormalities with joint contractures and short stature. Two types have been characterized: Schwartz-Jampel Syndrome type I (SJSI) and Schwartz-Jampel Syndrome type II (SJSII). SJSI is associated with a mutation of the HSPG2 gene on chromosome 1 and has been further characterized into two subtypes IA and IB. SJSIA is more common, less severe in presentation and is seen later in childhood than SJSIB. For both SJSI subtypes, prognosis is favorable as the main feature of muscle stiffness is slowly progressive, if at all, and is compatible with a normal life span. SJSII is apparent at birth, shares the same clinical profile and mutation in the LIFR gene noted in Stuve-Wiedemann Syndrome and is thus presumed to be the same disorder. In contrast to SJSI, its presentation is more severe and likelihood of survivability is much lower.
C165258	Cellosaurus Disease Terminology	C85061	Scleromyxedema	Scleromyxedema		A rare chronic and progressive skin disorder characterized by mucin deposition in the skin, resulting in the thickening and hardening of the skin, predominantly in the face, fingers, and extremities.
C165258	Cellosaurus Disease Terminology	C85062	Sea-Blue Histiocyte Syndrome	Sea-Blue Histiocyte Syndrome		A rare, inherited or acquired syndrome characterized by the presence of histiocytes in the bone marrow which contain granules stained blue with hematoxylin-eosin stain, mild thrombocytopenia and purpura, and splenomegaly.
C165258	Cellosaurus Disease Terminology	C134963	Seal Lymphoma	Seal Lymphoma		A lymphoma that occurs in a seal.
C165258	Cellosaurus Disease Terminology	C135000	Seal Lymphosarcoma	Seal Lymphosarcoma		Lymphosarcoma that occurs in a seal.
C165258	Cellosaurus Disease Terminology	C125488	Seckel Syndrome	Seckel Syndrome	Bird-Headed Dwarfism \|\| Microcephalic Primordial Dwarfism \|\| Nanocephalic Dwarfism \|\| Seckel-Type Dwarfism	A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
C165258	Cellosaurus Disease Terminology	C25765	Secondary Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia	Secondary AGL \|\| Secondary AML \|\| Secondary Acute Myeloblastic Leukemia \|\| Secondary Acute Myelogenous Leukemia	An acute myeloid leukemia arising from prior myelodysplastic syndrome, myeloproliferative neoplasm, or myelodysplastic/myeloproliferative neoplasm, or as a result of previous exposure to alkylating agents or topoisomerase II inhibitors.
C165258	Cellosaurus Disease Terminology	C27482	Secondary Chondrosarcoma	Secondary Chondrosarcoma		A chondrosarcoma that arises either in a pre-existing enchondroma or within the cartilaginous cap of a pre-existing osteochondroma.
C165258	Cellosaurus Disease Terminology	C27701	Secondary Myelofibrosis	Secondary Myelofibrosis		Myelofibrosis that develops in patients with a history of hematologic malignancies or toxic injury to the bone marrow.
C165258	Cellosaurus Disease Terminology	C3020	Seizure Disorder	Seizure Disorder	Epilepsy	A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
C165258	Cellosaurus Disease Terminology	C85073	Selective Antibody Deficiency with Normal Immunoglobulins	Selective Antibody Deficiency with Normal Immunoglobulins		A rare syndrome characterized by deficiency of specific antibodies to polysaccharide antigens while the specific antibodies to protein antigens are normal.
C165258	Cellosaurus Disease Terminology	C26965	Selective IgM Immunodeficiency	Selective IgM Immunodeficiency		A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class M (IgM). It is an uncommon primary antibody deficiency. It is most likely an inherited immunodeficiency. It may be caused by decreased or inefficient production of IgM from progenitor B cells without any corresponding decreases in the other isotypes. There is a widely variable clinical course. Some affected individuals may be asymptomatic while others show increased susceptibility to infection, malignancy and autoimmune disorders.
C165258	Cellosaurus Disease Terminology	C168588	Senior-Loken Syndrome	Senior-Loken Syndrome	SLSN	A genetically heterogenous condition usually inherited in an autosomal recessive pattern. It is characterized by nephronophthisis and retinitis pigmentosa.
C165258	Cellosaurus Disease Terminology	C168988	Sertoli Cell-Only Syndrome	Sertoli Cell-Only Syndrome	Del Castillo Syndrome	A condition in which the seminiferous tubules are lined only by Sertoli cells.
C165258	Cellosaurus Disease Terminology	C61229	Severe Aplastic Anemia	Severe Aplastic Anemia		Life-threatening anemia associated with a high risk of infection or bleeding.
C165258	Cellosaurus Disease Terminology	C162687	Severe Chronic Active EBV Infection	Severe Chronic Active EBV Infection	Severe Chronic Active Epstein-Barr Virus Infection	A severe form of chronic Epstein-Barr virus infection characterized by continued intermittent fever, lymphadenopathy, thrombocytopenia, lymphocytopenia, neutropenia, polyclonal gammopathy, and greatly elevated titers for antibodies to EBV-related antigens.
C165258	Cellosaurus Disease Terminology	C3472	Severe Combined Immunodeficiency	Severe Combined Immunodeficiency	Severe Combined Immune Deficiency	X-linked or autosomal recessive disorder characterized by defects of both humoral and cell mediated immunity, resulting in low or absent antibody levels, leukopenia, marked susceptibility to infections, and early death.--2004
C165258	Cellosaurus Disease Terminology	C162695	Severe Combined Immunodeficiency due to NHEJ1 Deficiency	Severe Combined Immunodeficiency due to NHEJ1 Deficiency		An autosomal recessive condition caused by mutation(s) in the NHEJ1 gene, encoding non-homologous end-joining factor 1. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Microcephaly, growth retardation, and sensitivity to ionizing radiation are also characteristic of this disease.
C165258	Cellosaurus Disease Terminology	C162694	Severe Combined Immunodeficiency, Athabascan Type	Severe Combined Immunodeficiency, Athabascan Type	Artemis-Deficient SCID \|\| Artemis-Deficient Severe Combined Immunodeficiency \|\| Severe Combined Immunodeficiency, Athabaskan Type	An autosomal recessive condition caused by mutation(s) in the DCLRE1C gene, encoding protein artemis. It is characterized by severe combined immunodeficiency that is T-cell negative, B-cell negative, NK-cell positive. Sensitivity to ionizing radiation and a high incidence of occurrence amongst the Athabascan Indians are also characteristic of this disease.
C165258	Cellosaurus Disease Terminology	C166153	Severe Congenital Neutropenia Type 3, Autosomal Recessive	Severe Congenital Neutropenia Type 3, Autosomal Recessive	Autosomal Recessive SCN, Type 3 \|\| Kostmann Syndrome \|\| Neutropenia, Severe Congenital, 3, Autosomal Recessive	Severe congenital neutropenia inherited in an autosomal recessive pattern and caused by HCLS1-associated protein X-1 (HAX1) mutations.
C165258	Cellosaurus Disease Terminology	C132293	Severe Neonatal Encephalopathy Due to MECP2 Mutations	Severe Neonatal Encephalopathy Due to MECP2 Mutations		An X-linked recessive condition caused by mutation(s) in the MECP2 gene, encoding methyl-CpG-binding protein 2. It is characterized by severe neonatal encephalopathy.
C165258	Cellosaurus Disease Terminology	C103186	Sexual Differentiation Disorder	Sexual Differentiation Disorder		A congenital disorder characterized by abnormalities in the development of the sexual characteristics.
C165258	Cellosaurus Disease Terminology	C3366	Sezary Syndrome	Sezary Syndrome	Sezary's Disease \|\| S�zary Syndrome	A generalized peripheral (mature) T-cell neoplasm characterized by the presence of erythroderma, lymphadenopathy, and neoplastic, cerebriform T-lymphocytes in the blood. Sezary syndrome is an aggressive disease. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C147532	Sheep Lung Adenocarcinoma	Sheep Lung Adenocarcinoma		Adenocarcinoma arising from the lung of a sheep.
C165258	Cellosaurus Disease Terminology	C71060	Short QT Syndrome	Short QT Syndrome		Ventricular tachyarrhythmias occurring in association with short QT syndrome.
C165258	Cellosaurus Disease Terminology	C163755	Short-Rib Thoracic Dysplasia 3 with or without Polydactyly	Short-Rib Thoracic Dysplasia 3 with or without Polydactyly		An autosomal recessive type of short rib-polydactyly syndrome caused by mutation(s) in the DYNC2H1 gene, encoding cytoplasmic dynein 2 heavy chain 1. Additionally, there is evidence that it may be caused by digenic biallelic mutation in DYNC2H1 and in NEK1 (the latter encoding serine/threonine-protein kinase Nek1). It is characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present.
C165258	Cellosaurus Disease Terminology	C122654	Short-Rib Thoracic Dysplasia 6 with or without Polydactyly	Short-Rib Thoracic Dysplasia 6 with or without Polydactyly	Majewski Syndrome \|\| Polydactyly with Neonatal Chondrodystrophy Type II \|\| Short Rib-Polydactyly Syndrome Type II	A group of rare, autosomal recessive inherited disorders characterized by a constricted thoracic cage, short ribs, and a 'trident' appearance of the acetabular roof. Polydactyly may or may not be present. Other abnormalities include cleft lip and palate and abnormalities of the brain, eye, heart, liver, pancreas, intestine, kidney, and genitalia.
C165258	Cellosaurus Disease Terminology	C124840	Shprintzen-Goldberg Craniosynostosis Syndrome	Shprintzen-Goldberg Craniosynostosis Syndrome		A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome.
C165258	Cellosaurus Disease Terminology	C61235	Shwachman-Diamond Syndrome	Shwachman-Diamond Syndrome	Shwachman Syndrome \|\| Shwachman-Bodian-Diamond Syndrome \|\| Shwachman-Diamond-Oski Syndrome	A rare, autosomal recessive disorder characterized by exocrine pancreas insufficiency, skeletal abnormalities, bone marrow dysfunction, and an increased incidence of leukemia.
C165258	Cellosaurus Disease Terminology	C85067	Sialic Acid Storage Disease	Sialic Acid Storage Disease	Salla Disease	A rare, autosomal recessive lysosomal storage disease caused by mutations in the SLC17A5 gene. It primarily affects the nervous system. Signs and symptoms include developmental delay, intellectual disability, hypotonia, failure to thrive, seizures, and ataxia.
C165258	Cellosaurus Disease Terminology	C62244	Sick Sinus Syndrome	Sick Sinus Syndrome		A constellation of signs and symptoms which may include syncope, fatigue, dizziness, and alternating periods of bradycardia and atrial tachycardia, which is caused by sinoatrial node dysfunction.
C165258	Cellosaurus Disease Terminology	C34383	Sickle Cell Disease	Sickle Cell Disease	Sickle Cell Anemia	A blood disorder characterized by the appearance of sickle-shaped red blood cells and anemia.
C165258	Cellosaurus Disease Terminology	C36078	Sideroblastic Anemia	Sideroblastic Anemia		Anemia characterized by the production of ringed sideroblasts instead of healthy red blood cells.
C165258	Cellosaurus Disease Terminology	C201595	Sifrim-Hitz-Weiss Syndrome	Sifrim-Hitz-Weiss Syndrome		An autosomal dominant condition caused by mutation(s) in the CHD4 gene, encoding chromodomain helicase DNA binding protein 4. It is characterized by disordered intellectual development, with variable congenital defects.
C165258	Cellosaurus Disease Terminology	C118787	Simpson Golabi Behmel Syndrome Type 1	Simpson Golabi Behmel Syndrome Type 1	SGBS1	A rare, X-linked inherited syndrome caused by mutations in the GPC3 and GPC4 genes. It is characterized by pre-and postnatal overgrowth, coarse facial features, macrocephaly, macroglossia, congenital heart defects, and intellectual disability.
C165258	Cellosaurus Disease Terminology	C116316	Sinonasal Adenocarcinoma, Intestinal-Type	Sinonasal Adenocarcinoma, Intestinal-Type	Enteric-Type Sinonasal Adenocarcinoma \|\| Intestinal-Type Sinonasal Adenocarcinoma \|\| Nasal Cavity and Paranasal Sinus Adenocarcinoma, Intestinal-Type	An adenocarcinoma that arises from the nasal cavity and paranasal sinuses. Histologically it resembles intestinal adenocarcinoma. It is associated with lengthy occupational exposure to dust.
C165258	Cellosaurus Disease Terminology	C6871	Sinonasal Inverted Papilloma	Sinonasal Inverted Papilloma	Inverted Schneiderian Papilloma \|\| Sinonasal Inverted Schneiderian Papilloma \|\| Sinonasal Papilloma, Inverted Type	A benign neoplasm that arises from the ciliated respiratory mucosa that lines the nasal cavity or paranasal sinuses. It results from the invagination and proliferation of epithelial cells in the underlying stroma. Clinical manifestations include nasal obstruction, epistaxis, and anosmia. It has the tendency to recur and extend to adjacent structures. Inverted papillomas are occasionally associated with the development or presence of carcinomas, usually squamous cell carcinomas.
C165258	Cellosaurus Disease Terminology	C116318	Sinonasal Small Cell Carcinoma	Sinonasal Small Cell Neuroendocrine Carcinoma	Nasal Cavity and Paranasal Sinus Small Cell Carcinoma \|\| Nasal Cavity and Paranasal Sinus Small Cell Neuroendocrine Carcinoma \|\| Sinonasal Small Cell Carcinoma	A rare neuroendocrine carcinoma that arises from the nose and paranasal sinuses and is composed of malignant small cells. The mitotic count is more than 10 per 2 mm2 and/or the Ki-67 index is more than 20%.
C165258	Cellosaurus Disease Terminology	C68611	Sinonasal Squamous Cell Carcinoma	Sinonasal Squamous Cell Carcinoma	Nasal Cavity and Paranasal Sinus Squamous Cell Carcinoma	A rare, keratinizing or non-keratinizing squamous cell carcinoma arising from the mucosal epithelium of the nasal cavity or the paranasal sinuses. It affects most often the maxillary sinus. Less frequently, it arises from the nasal cavity, ethmoid sinus, sphenoid sinus, and frontal sinus. Symptoms include nasal fullness, epistaxis, rhinorhea, pain, and paresthesia. Patients with nasal squamous cell carcinoma usually present earlier than patients with maxillary sinus carcinoma and have a better prognosis compared to the latter group.
C165258	Cellosaurus Disease Terminology	C54294	Sinonasal Undifferentiated Carcinoma	Sinonasal Undifferentiated Carcinoma	Sinonasal Anaplastic Carcinoma	A rare, highly aggressive carcinoma that arises from the sinonasal tract. It is characterized by the presence of small to medium size malignant cells. The prognosis is poor.
C165258	Cellosaurus Disease Terminology	C62243	Sinus Node Dysfunction	Sinus Node Dysfunction		A derangement in the normal functioning of the sinoatrial node. Typically, SA node dysfunction is manifest as sinoatrial exit block or sinus arrest, but may present as an absolute or relative bradycardia in the presence of a stressor. It may be associated with bradycardia-tachycardia syndrome
C165258	Cellosaurus Disease Terminology	C125694	Sitosterolemia	Sitosterolemia		An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.
C165258	Cellosaurus Disease Terminology	C26883	Sjogren Syndrome	Sjogren Syndrome	Sjogren's Syndrome \|\| Sj�gren Syndrome	An autoimmune disorder affecting the salivary and lacrimal glands. Morphologically, it is characterized by the presence of lymphocytic and plasmacytic infiltrates which cause destruction of these glands. It results in dry mouth and dry eyes. It may be associated with the presence of other autoimmune disorders, including rheumatoid arthritis and lupus erythematosus.
C165258	Cellosaurus Disease Terminology	C85070	Sjogren-Larsson Syndrome	Sjogren-Larsson Syndrome	Fatty Aldehyde Dehydrogenase Deficiency	An autosomal recessive condition caused by mutation(s) in the ALDH3A2 gene, encoding fatty aldehyde dehydrogenase. It is a characterized by dry and scaly skin, neurological dysfunction and mild to moderate intellectual disability.
C165258	Cellosaurus Disease Terminology	C4489	Skin Angiosarcoma	Skin Angiosarcoma	Angiosarcoma of Skin \|\| Angiosarcoma of the Skin \|\| Hemangiosarcoma of Skin \|\| Hemangiosarcoma of the Skin \|\| Skin Hemangiosarcoma	A malignant vascular neoplasm arising from the skin.
C165258	Cellosaurus Disease Terminology	C2921	Skin Basal Cell Carcinoma	Skin Basal Cell Carcinoma	Basal Cell Cancer \|\| Basal Cell Carcinoma \|\| Basal Cell Carcinoma of Skin \|\| Basal Cell Carcinoma of the Skin \|\| Basal Cell Epithelioma \|\| Basal Cell Skin Carcinoma	The most frequently seen skin cancer. It arises from basal cells of the epidermis and pilosebaceous units. Clinically it is divided into the following types: nodular, ulcerative, superficial, multicentric, erythematous, and sclerosing or morphea-like. More than 95% of these carcinomas occur in patients over 40. They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck and the remaining 15% on the trunk and extremities. Basal cell carcinoma usually grows in a slow and indolent fashion. However, if untreated, the tumor may invade the subcutaneous fat, skeletal muscle and bone. Distant metastases are rare. Excision, curettage and irradiation cure most basal cell carcinomas.
C165258	Cellosaurus Disease Terminology	C5585	Skin Sarcoma	Skin Sarcoma	Cutaneous Sarcoma \|\| Sarcoma of Skin \|\| Sarcoma of the Skin	A sarcoma that arises from the skin. Representative examples include Kaposi sarcoma, angiosarcoma, lymphangiosarcoma, liposarcoma, and leiomyosarcoma.
C165258	Cellosaurus Disease Terminology	C4819	Skin Squamous Cell Carcinoma	Skin Squamous Cell Carcinoma	Cutaneous Squamous Cell Carcinoma \|\| Epidermoid Carcinoma of Skin \|\| Epidermoid Carcinoma of the Skin \|\| Epidermoid Skin Carcinoma \|\| Squamous Cell Carcinoma of Skin \|\| Squamous Cell Carcinoma of the Skin \|\| Squamous Cell Skin Carcinoma	A carcinoma arising from the squamous cells of the epidermis. Skin squamous cell carcinoma is most commonly found on sun-exposed areas. The majority of the tumors are well-differentiated.
C165258	Cellosaurus Disease Terminology	C191771	SLC6A1-Associated Myoclonic-Atonic Epilepsy	SLC6A1-Associated Myoclonic-Atonic Epilepsy		Myoclonic-atonic epilepsy caused by mutation(s) in the SLC6A1 gene, encoding sodium- and chloride-dependent GABA transporter 1.
C165258	Cellosaurus Disease Terminology	C84903	Sly Syndrome	Sly Syndrome	Beta-Glucuronidase Deficiency \|\| Mucopolysaccharidosis Type VII	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme beta-glucuronidase. It is characterized by hepatosplenomegaly, skeletal deformities, enlarged head, and mental retardation.
C165258	Cellosaurus Disease Terminology	C4023	Small Cell Osteosarcoma	Small Cell Osteosarcoma	Small Cell Osteogenic Sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of small cells and osteoid production. The prognosis is usually unfavorable.
C165258	Cellosaurus Disease Terminology	C96805	Small Duct Intrahepatic Cholangiocarcinoma	Small Duct Intrahepatic Cholangiocarcinoma	Peripheral ICC \|\| Peripheral Intrahepatic Cholangiocarcinoma	An intrahepatic cholangiocarcinoma that arises from the small interlobular bile ducts.
C165258	Cellosaurus Disease Terminology	C125389	Small Fiber Neuropathy	Small Fiber Neuropathy	Painful Peripheral Neuropathy Small Nerve Fiber Neuropathy	Neuropathy caused by damage to the small myelinated (A-delta) fibers or unmyelinated C fibers in the peripheral nerves. It manifests with burning pain, shooting pain, allodynia, and hyperesthesia.
C165258	Cellosaurus Disease Terminology	C7888	Small Intestinal Adenocarcinoma	Small Intestinal Adenocarcinoma	Adenocarcinoma of Small Bowel \|\| Adenocarcinoma of Small Intestine \|\| Adenocarcinoma of the Small Bowel \|\| Adenocarcinoma of the Small Intestine \|\| Non-Ampullary Adenocarcinoma \|\| Small Bowel Adenocarcinoma	An adenocarcinoma that arises from the small intestine. Histologic variants include mucinous adenocarcinoma and signet ring cell carcinoma.
C165258	Cellosaurus Disease Terminology	C7724	Small Intestinal Carcinoma	Small Intestinal Carcinoma	Cancer of Small Bowel \|\| Cancer of the Small Bowel \|\| Carcinoma of Small Bowel \|\| Carcinoma of Small Intestine \|\| Carcinoma of the Small Bowel \|\| Carcinoma of the Small Intestine \|\| Small Bowel Cancer \|\| Small Bowel Carcinoma \|\| Small Intestine Cancer	A carcinoma arising from the small intestine. The vast majority are adenocarcinomas. The remaining cases are adenosquamous, squamous, or undifferentiated carcinomas.
C165258	Cellosaurus Disease Terminology	C7540	Small Lymphocytic Lymphoma	Small Lymphocytic Lymphoma	B-Cell Small Lymphocytic Lymphoma \|\| Small B-Cell Lymphocytic Lymphoma	A non-Hodgkin lymphoma composed of monomorphic small, round B-lymphocytes in the lymph nodes. When the lymphoid process predominantly involves the bone marrow and the peripheral blood it is called chronic lymphocytic leukemia. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C85071	Smith-Lemli-Opitz Syndrome	Smith-Lemli-Opitz Syndrome		A rare, autosomal recessive syndrome caused by mutations in the DHCR7 gene. It is characterized by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase resulting in defects in the cholesterol synthesis. It is manifested with multiple congenital malformations, including facial abnormalities, microcephaly, and syndactyly. Behavioral abnormalities may also be present.
C165258	Cellosaurus Disease Terminology	C75469	Smith-Magenis Syndrome	Smith-Magenis Syndrome	Chromosome 17p11.2 Deletion Syndrome	A genetic syndrome caused by an interstitial deletion in chromosome 17p11.2. It is characterized by mild to moderate mental retardation, distinctive facial features (flat head, square face, and deep set-eyes), sleep disturbances, attention deficit disorders, and temper tantrums.
C165258	Cellosaurus Disease Terminology	C6605	Soft Tissue Fibrosarcoma	Soft Tissue Fibrosarcoma	Fibrosarcoma of Soft Tissue \|\| Fibrosarcoma of the Soft Tissue	A usually aggressive malignant neoplasm arising from the soft tissue. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern.
C165258	Cellosaurus Disease Terminology	C9306	Soft Tissue Sarcoma	Soft Tissue Sarcoma	Sarcoma of Soft Tissue \|\| Sarcoma of the Soft Tissue	A malignant neoplasm arising from muscle tissue, adipose tissue, blood vessels, fibrous tissue, or other supportive tissues excluding the bones.
C165258	Cellosaurus Disease Terminology	C5394	Solitary Adult Fibroma	Solitary Adult Fibroma	Solitary Adult Cutaneous Fibroma \|\| Solitary Adult Skin Fibroma	A solitary benign neoplasm arising from the fibrous soft tissues. The tumor is characterized by the presence of spindle-shaped fibroblasts.
C165258	Cellosaurus Disease Terminology	C206110	Sorsby Fundus Dystrophy	Sorsby Fundus Dystrophy		An autosomal dominant inherited form of retinal dystrophy caused by mutation(s) in the TIMP3 gene, encoding metalloproteinase inhibitor 3. It is characterized by night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization.
C165258	Cellosaurus Disease Terminology	C75019	Sotos Syndrome	Sotos Syndrome		An autosomal dominant overgrowth syndrome caused by mutation(s) of the NSD1 or the NFIX gene, encoding H3 lysine-36 and H4 lysine-20 specific histone-lysine N-methyltransferase, and nuclear factor 1 X-type, respectively. The condition is characterized by a disproportionately large and long head with a slightly prominent forehead and pointed chin, hypertelorism, down-slanting eyes, large hands and feet, overgrowth in childhood, and developmental delay.
C165258	Cellosaurus Disease Terminology	C192058	Spastic Paraplegia 10	Spastic Paraplegia 10		An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF5A gene, encoding kinesin heavy chain isoform 5A.
C165258	Cellosaurus Disease Terminology	C148317	Spastic Paraplegia 11	Spastic Paraplegia 11	Spastic Paraplegia, Autosomal Recessive, Complicated, with Thin Corpus Callosum	An autosomal recessive condition caused by mutation(s) in the SPG11 gene, encoding spatacsin. It is a complicated sub-type of hereditary spastic paraplegia that has varying neurologic manifestations in addition to spasticity.
C165258	Cellosaurus Disease Terminology	C170435	Spastic Paraplegia 30	Spastic Paraplegia 30		An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A.
C165258	Cellosaurus Disease Terminology	C189921	Spastic Paraplegia 31	Spastic Paraplegia 31		An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the REEP1 gene, encoding receptor expression-enhancing protein 1.
C165258	Cellosaurus Disease Terminology	C188989	Spastic Paraplegia 35	Spastic Paraplegia 35	Fatty Acid Hydroxylase-Associated Neurodegeneration \|\| Spastic Paraplegia 35, Autosomal Recessive, with or without Neurodegeneration	An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the FA2H gene, encoding fatty acid 2-hydroxylase.
C165258	Cellosaurus Disease Terminology	C142893	Spastic Paraplegia 3A	Spastic Paraplegia 3A	Strumpell Disease	An autosomal dominant subtype of hereditary spastic paraplegia caused by mutation(s) in the ATL1 gene, encoding atlastin-1.
C165258	Cellosaurus Disease Terminology	C129981	Spastic Paraplegia 4	Spastic Paraplegia 4		An autosomal dominant condition caused by mutation(s) in the SPAST gene, encoding spastin. It is characterized by progressive lower extremity spasticity and weakness.
C165258	Cellosaurus Disease Terminology	C164224	Spastic Paraplegia 47	Spastic Paraplegia 47		An autosomal recessive sub-type of hereditary spastic paraplegia caused by mutation(s) in the AP4B1 gene, encoding AP-4 complex subunit beta-1. It is characterized by severe mental retardation and spasticity.
C165258	Cellosaurus Disease Terminology	C179863	Spastic Paraplegia 50	Spastic Paraplegia 50	Cerebral Palsy, Spastic Quadriplegic 3, Formerly	An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the AP4M1 gene, encoding AP-4 complex subunit mu-1.
C165258	Cellosaurus Disease Terminology	C190870	Spastic Paraplegia 56	Spastic Paraplegia 56	Autosomal Recessive Spastic Paraplegia-56 with or without Pseudoxanthoma Elasticum	An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP2U1 gene, encoding cytochrome P450 2U1.
C165258	Cellosaurus Disease Terminology	C177250	Spastic Paraplegia 5A	Spastic Paraplegia 5A		An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CYP7B1 gene, cytochrome P450 7B1.
C165258	Cellosaurus Disease Terminology	C181657	Spastic Paraplegia 7	Spastic Paraplegia 7	Spastic Paraplegia 7, Autosomal Recessive	An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the SPG7 gene, encoding paraplegin.
C165258	Cellosaurus Disease Terminology	C157150	Spastic Paraplegia 76	Spastic Paraplegia 76		An autosomal recessive subtype of hereditary spastic paraplegia caused by mutation(s) in the CAPN1 gene, encoding calpain-1 catalytic subunit.
C165258	Cellosaurus Disease Terminology	C101214	Spina Bifida	Spina Bifida		A congenital neural tube defect in which vertebrae are not fully formed. It results in the protrusion of the spinal cord through the opening of the vertebrae.
C165258	Cellosaurus Disease Terminology	C85233	Spinal and Bulbar Muscular Atrophy, X-linked 1	Spinal and Bulbar Muscular Atrophy, X-linked 1	Kennedy Disease \|\| SBMA \|\| Spinal and Bulbar Muscular Atrophy	A rare, slowly progressive degenerative disorder affecting males. It is caused by mutations in the androgen receptor (AR) gene. It is characterized by bulbar and limb muscle weakness and atrophy, and gynecomastia.
C165258	Cellosaurus Disease Terminology	C5156	Spinal Chordoma	Spinal Chordoma	Chordoma of Spinal Column \|\| Chordoma of Spine \|\| Chordoma of the Spinal Column \|\| Spinal Chordomas \|\| Spinal Column Chordoma	A chordoma that arises from the spine.
C165258	Cellosaurus Disease Terminology	C5406	Spinal Cord Embryonal Tumor, Not Otherwise Specified	Spinal Cord Embryonal Tumor, Not Otherwise Specified	Spinal Cord Embryonal Tumor, NOS	A central nervous system embryonal tumor, not otherwise specified arising from the spinal cord.
C165258	Cellosaurus Disease Terminology	C4534	Spinal Cord Glioma	Spinal Cord Glioma	Glial Neoplasm Spinal Cord \|\| Glial Tumor of Spinal Cord \|\| Spinal Cord Glial Neoplasm \|\| Spinal Cord Glial Tumor	A neoplasm that arises from glial cells in the spinal cord. Representative examples include astrocytoma, oligodendroglioma, and ependymoma.
C165258	Cellosaurus Disease Terminology	C85075	Spinal Muscular Atrophy	Spinal Muscular Atrophy		An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.
C165258	Cellosaurus Disease Terminology	C156310	Spinal Muscular Atrophy Type 2	Spinal Muscular Atrophy Type 2		An autosomal recessive condition caused by mutation(s) in the SMN1 gene, encoding survival motor neuron protein. It is characterized by onset between 3 and 15 months of age, and is intermediate in terms of severity between spinal muscular atrophy (SMA) type I and SMA type III.
C165258	Cellosaurus Disease Terminology	C118847	Spinal Muscular Atrophy Type 3	Spinal Muscular Atrophy Type 3	Juvenile Spinal Muscular Atrophy \|\| Kugelberg-Welander Disease \|\| Kugelberg-Welander Syndrome \|\| Spinal Muscular Atrophy III	A rare, autosomal recessive inherited disorder caused by mutations in the SMN1 gene. It is characterized by progressive degeneration and loss of the anterior horn cells in the spinal cord and brain stem. It is manifested with hypotonia and muscle weakness, usually in late childhood or adolescence. Affected individuals can stand and walk but walking and climbing stairs becomes progressively difficult.
C165258	Cellosaurus Disease Terminology	C177444	Spinal Stenosis	Spinal Stenosis		Narrowing of the spinal canal. It may lead to compression of the spinal cord or nerve roots resulting in neck or back pain, and/or numbness or weakness in the extremities.
C165258	Cellosaurus Disease Terminology	C27005	Spindle Cell Sarcoma	Spindle Cell Sarcoma		A malignant mesenchymal neoplasm composed of spindle-shaped cells. This is a morphologic term which can be applied to a wide range of sarcomas.
C165258	Cellosaurus Disease Terminology	C4277	Spindle Cell Synovial Sarcoma	Spindle Cell Synovial Sarcoma	Synovial Sarcoma with Spindle Cell Components	A synovial sarcoma characterized by the presence of a spindle cell component only.
C165258	Cellosaurus Disease Terminology	C121654	Spindle Cell/Sclerosing Rhabdomyosarcoma	Spindle Cell/Sclerosing Rhabdomyosarcoma		An uncommon variant of rhabdomyosarcoma with spindle cell or sclerosing morphology. It affects both children and adults and it is more common in males.
C165258	Cellosaurus Disease Terminology	C21810	Spindle-cell Squamous Cell Carcinoma of the Mouse Skin	Spindle-cell Squamous Cell Carcinoma of the Mouse Skin
C165258	Cellosaurus Disease Terminology	C82341	Spinocerebellar Ataxia	Spinocerebellar Ataxia	Spinocerebellar Degeneration	An inherited disorder characterized by degeneration of the spinal cord and the cerebellum. Symptoms may appear at any age and include progressive loss of coordination of gait, hands, speech, and eye movements.
C165258	Cellosaurus Disease Terminology	C129982	Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia Type 1		An autosomal dominant neurodegenerative disorder caused by mutations in the ATXN1 gene, encoding ataxin-1. It is characterized by progressive cerebellar ataxia, dysarthria and saccadic abnormalities.
C165258	Cellosaurus Disease Terminology	C154316	Spinocerebellar Ataxia Type 12	Spinocerebellar Ataxia Type 12		An autosomal dominant sub-type of spinocerebellar ataxia caused by mutation(s) in the PPP2R2B gene, encoding serine/threonine-protein phosphatase 2A 55 kDa regulatory subunit B beta isoform. It presents with characteristic action tremors in the upper limbs, followed by other movement abnormalities.
C165258	Cellosaurus Disease Terminology	C150250	Spinocerebellar Ataxia Type 16	Spinocerebellar Ataxia Type 16		An autosomal recessive form of spinocerebellar ataxia caused by mutation(s) in the STUB1 gene, encoding E3 ubiquitin-protein ligase CHIP.
C165258	Cellosaurus Disease Terminology	C179861	Spinocerebellar Ataxia Type 17	Spinocerebellar Ataxia Type 17		An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the TBP gene, encoding TATA-box-binding protein.
C165258	Cellosaurus Disease Terminology	C163756	Spinocerebellar Ataxia Type 19/22	Spinocerebellar Ataxia Type 19/22		An autosomal dominant form of spinocerebellar ataxia (SCA), caused by mutation(s) in the KCND3 gene, encoding potassium voltage-gated channel subfamily D member 3. SCA19 and SCA22 were initially described independently, but the molecular basis for both conditions is mutation(s) in the KCND3 gene.
C165258	Cellosaurus Disease Terminology	C148315	Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia Type 2	Olivopontocerebellar Atrophy 2 \|\| Wadia-Swami Syndrome	An autosomal dominant condition caused by mutation(s) in the ATXN2 gene, encoding ataxin-2. Specifically, the mutation is an expanded CAG trinucleotide repeat in the gene. It is a progressive cerebellar ataxia associated supranuclear ophthalmoplegia, mild dementia and peripheral neuropathy.
C165258	Cellosaurus Disease Terminology	C84830	Spinocerebellar Ataxia Type 3	Spinocerebellar Ataxia Type 3	Machado-Joseph Disease	A very rare, autosomal dominant inherited neurodegenerative disorder. Signs and symptoms include ataxia, spasticity, and abnormalities in the ocular movements.
C165258	Cellosaurus Disease Terminology	C176901	Spinocerebellar Ataxia Type 31	Spinocerebellar Ataxia Type 31		An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the BEAN1 gene, encoding protein BEAN1.
C165258	Cellosaurus Disease Terminology	C148316	Spinocerebellar Ataxia Type 36	Spinocerebellar Ataxia Type 36		An autosomal dominant condition caused by mutation(s) in the NOP56 gene, encoding nucleolar protein 56. It is characterized by slowly progressive adult-onset gait ataxia, associated with eye movement abnormalities, tongue fasciculations and variable upper motor neuron signs.
C165258	Cellosaurus Disease Terminology	C171269	Spinocerebellar Ataxia Type 42	Spinocerebellar Ataxia Type 42		An autosomal dominant form of spinocerebellar ataxia caused by mutation(s) in the CACNA1G gene, encoding voltage-dependent T-type calcium channel subunit alpha-1G.
C165258	Cellosaurus Disease Terminology	C142838	Spinocerebellar Ataxia Type 6	Spinocerebellar Ataxia Type 6		An autosomal recessive spinocerebellar ataxia caused by an expanded CAG repeat in the CACNA1A gene, encoding voltage-dependent P/Q-type calcium channel subunit alpha-1A. It is an almost pure cerebellar syndrome, with onset typically between the ages of 20 to 60.
C165258	Cellosaurus Disease Terminology	C126562	Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia Type 7		An autosomal dominant inherited neurodegenerative disorder caused by mutations in the ATXN7 gene. It is characterized by progressive cerebellar ataxia, including dysarthria and dysphagia, cone-rod and retinal dystrophy, and progressive central visual loss resulting in blindness.
C165258	Cellosaurus Disease Terminology	C165500	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2	Ataxia with Oculomotor Apraxia Type 2	An autosomal recessive condition caused by mutation(s) in the SETX gene, encoding probable helicase senataxin. It is characterized by juvenile onset progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased concentrations of serum alpha-fetoprotein. Oculomotor apraxia is common, but is not always present.
C165258	Cellosaurus Disease Terminology	C165497	Spitz Melanoma	Spitz Melanoma	Malignant Spitz Tumor \|\| Spitzoid Melanoma	A cutaneous melanoma that is associated with genomic alterations observed in Spitz nevus and Spitz melanocytoma. It shares histopathological and clinical features with Spitz melanocytoma.
C165258	Cellosaurus Disease Terminology	C4663	Splenic Marginal Zone Lymphoma	Splenic Marginal Zone Lymphoma	Marginal Zone Lymphoma of Spleen \|\| Marginal Zone Lymphoma of the Spleen \|\| Splenic Lymphoma with Circulating Villous Lymphocytes \|\| Splenic Marginal Zone B-Cell Lymphoma \|\| Splenic Marginal Zone B-Cell Lymphoma with Villous Lymphocytes \|\| Splenic Marginal Zone Lymphoma with Villous Lymphocytes	A B-cell non-Hodgkin lymphoma composed of small lymphocytes which surround and replace the splenic white pulp germinal centers. It involves the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood. When lymphoma cells are present in the peripheral blood, they are usually, but not always, characterized by the presence of short polar villi. (WHO)
C165258	Cellosaurus Disease Terminology	C125598	Spondylocostal Dysostosis	Spondylocostal Dysostosis		A rare disorder caused by mutations in the DLL3 gene, MESP2 gene, LFNG gene, or HES7 gene. It is characterized by abnormal development of bones in the spine and ribs.
C165258	Cellosaurus Disease Terminology	C125419	Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2	Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 2	SEMDJL2	A rare disorder caused by mutation in the KIF22 gene. It is characterized by short stature, midface retrusion, progressive knee malalignment, generalized ligamentous laxity, and mild spinal deformity.
C165258	Cellosaurus Disease Terminology	C129031	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Short Limb Dwarfism-Saddle Nose-Spinal Alterations-Metaphyseal Striation Syndrome \|\| Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation \|\| Sponastrime Dysplasia	A rare disorder characterized by severe short stature, lumbar lordosis, midface hypoplasia, micromelia, frontal bossing, epiphyseal and metaphyseal abnormalities. The inheritance is autosomal recessive.
C165258	Cellosaurus Disease Terminology	C135088	Spondyloperipheral Dysplasia	Spondyloperipheral Dysplasia		An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is characterized by short stature, pugilistic facies, midface hypoplasia, spondyloepiphyseal dysplasia, kyphosis, short ulna, and absent styloid process. Mutation(s) in the same gene are responsible for Kniest dysplasia.
C165258	Cellosaurus Disease Terminology	C165532	Spontaneous Coronary Artery Dissection	Spontaneous Coronary Artery Dissection		The spontaneous occurrence of a dissection of the coronary artery. The clinical recognition of this phenomenon has increased as coronary angiography is becoming more commonly used in the treatment of acute coronary syndrome. The etiology of the condition has not been fully elucidated, but the mean age of presentation is 30-45 years, more than 70% are women, and 30% of cases occur in the peripartum period.
C165258	Cellosaurus Disease Terminology	C42596	Sporadic Retinoblastoma	Sporadic Retinoblastoma		A retinoblastoma that occurs in a patient without a family history of the disease.
C165258	Cellosaurus Disease Terminology	C2929	Squamous Cell Carcinoma	Squamous Cell Carcinoma	Epidermoid Carcinoma \|\| Epidermoid Cell Cancer \|\| Malignant Epidermoid Cell Neoplasm \|\| Malignant Epidermoid Cell Tumor \|\| Malignant Squamous Cell Neoplasm \|\| Malignant Squamous Cell Tumor \|\| Squamous Carcinoma \|\| Squamous Cell Cancer \|\| Squamous Cell Epithelioma	A carcinoma arising from squamous epithelial cells. Morphologically, it is characterized by the proliferation of atypical, often pleomorphic squamous cells. Squamous cell carcinomas are graded by the degree of cellular differentiation as well, moderately, or poorly differentiated. Well differentiated carcinomas are usually associated with keratin production and the presence of intercellular bridges between adjacent cells. Representative examples are lung squamous cell carcinoma, skin squamous cell carcinoma, and cervical squamous cell carcinoma.
C165258	Cellosaurus Disease Terminology	C23049	Squamous Cell Carcinoma of the Mouse Oral Cavity	Squamous Cell Carcinoma of the Mouse Oral Cavity
C165258	Cellosaurus Disease Terminology	C21770	Squamous Cell Carcinoma of the Mouse Pulmonary System	Squamous Cell Carcinoma of the Mouse Pulmonary System		Squamous cell carcinoma of the pulmonary system occurring in a mouse.
C165258	Cellosaurus Disease Terminology	C21806	Squamous Cell Carcinoma of the Mouse Skin	Squamous Cell Carcinoma of the Mouse Skin
C165258	Cellosaurus Disease Terminology	C168554	Squamous Cell Carcinoma of the Mouse Tongue	Squamous Cell Carcinoma of the Mouse Tongue		Squamous cell carcinoma arising from the tongue in a mouse.
C165258	Cellosaurus Disease Terminology	C7729	Squamous Cell Carcinoma of the Penis	Penile Squamous Cell Carcinoma	Epidermoid Carcinoma of Penis \|\| Epidermoid Carcinoma of the Penis \|\| Epidermoid Cell Carcinoma of Penis \|\| Epidermoid Cell Carcinoma of the Penis \|\| Penile Epidermoid Carcinoma \|\| Penile Epidermoid Cell Carcinoma \|\| Squamous Cell Carcinoma of Penis \|\| Squamous Cell Carcinoma of the Penis	A squamous cell carcinoma arising from the penis. It occurs chiefly in the squamous epithelium of the glans, coronal sulcus, and foreskin. Etiologic factors include phimosis, lichen sclerosus, smoking, ultraviolet irradiation, history of warts or condylomas, and lack of circumcision. Human papilloma virus is present in a subset of penile squamous cell carcinomas. Patients may present with an exophytic or flat ulcerative mass in the glans or a large primary tumor with inguinal nodal and skin metastases. (WHO, 2004)
C165258	Cellosaurus Disease Terminology	C63892	Squamous Cell Carcinoma of the Rat Esophagus	Squamous Cell Carcinoma of the Rat Esophagus	Rat Esophagus Squamous Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C64146	Squamous Cell Carcinoma of the Rat Urinary Bladder	Squamous Cell Carcinoma of the Rat Urinary Bladder	Rat Urinary Bladder Squamous Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C85078	Stargardt Disease	Stargardt Disease		An autosomal recessive and rarely autosomal dominant inherited disorder caused by mutations in the ABCA4 or ELOVL4 genes respectively. It is characterized by macular degeneration that begins in late childhood resulting in progressive loss of vision.
C165258	Cellosaurus Disease Terminology	C172099	STAT1-Associated Immunodeficiency	STAT1-Associated Immunodeficiency	Familial Candidiasis 7 \|\| Immunodeficiency 31C	An autosomal dominant immune dysregulation condition characterized by chronic mucocutaneous candidiasis, as well as other variable clinical features. It is caused by gain-of-function mutation(s) in the STAT1 gene, encoding signal transducer and activator of transcription 1-alpha/beta.
C165258	Cellosaurus Disease Terminology	C79484	Stevens-Johnson Syndrome	Stevens-Johnson Syndrome		A systemic, serious, and life-threatening disorder characterized by lesions in the skin and mucous membranes that may lead to necrosis. The lesions may appear anywhere in the body but they occur more commonly in the palms, soles, dorsum of the hands, and extensor surfaces. The lesions are vesicular or necrotic in the center, surrounded by an erythematous zone and occupy less than 10% of the body surfaces. The appearance of the mucocutaneous lesions is preceded by an upper respiratory tract infection. It is an immune complex hypersensitivity reaction usually caused by drugs (e.g., sulfa, phenytoin, penicillin), viruses (e.g., herpes simplex, influenza, hepatitis), and malignancies (e.g., carcinoma and lymphoma).
C165258	Cellosaurus Disease Terminology	C74984	Stickler Syndrome	Stickler Syndrome		A rare autosomal dominant syndrome caused by mutations in the COL11A1, COL11A2, and COL2A1 genes which affect the production of type II and XI collagen. It is characterized by a range of signs and symptoms including cleft palate, large tongue, small lower jaw, hearing loss, myopia, glaucoma, retinal detachment, skeletal, and joint abnormalities.
C165258	Cellosaurus Disease Terminology	C168733	Stickler Syndrome Type 1	Stickler Syndrome Type 1		Stickler syndrome inherited in an autosomal dominant pattern, caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain.
C165258	Cellosaurus Disease Terminology	C118636	Stiff Skin Syndrome	Stiff Skin Syndrome		A rare, autosomal dominant inherited syndrome caused by mutations in the FBN1 gene. It is characterized by hard and thickened skin, usually over the entire body, and limited joint motility.
C165258	Cellosaurus Disease Terminology	C177547	STING-Associated Vasculopathy, Infantile-Onset	STING-Associated Vasculopathy, Infantile-Onset		An autosomal dominant condition caused by mutation(s) in the STING1 gene, encoding stimulator of interferon genes protein. It is characterized by an autoinflammatory vasculopathy resulting in severe skin lesions.
C165258	Cellosaurus Disease Terminology	C125695	Striatonigral Degeneration	Striatonigral Degeneration		A progressive neurodegenerative disorder caused by a disruption in the connection between the striatum and the substantia nigra. It is a type of multiple system atrophy (MSA). Signs and symptoms include rigidity, instability, impaired speech, and slow movements.
C165258	Cellosaurus Disease Terminology	C3391	Sturge-Weber Syndrome	Sturge-Weber Syndrome	Encephalotrigeminal Syndrome \|\| Sturge-Weber Disease	A congenital disorder caused by mutation in the GNAQ gene. It is characterized by the presence of a port-wine nevus birthmark on one or both sides of the face. Additional clinical manifestations may include seizures, leptomeningeal angiomas, glaucoma, progressive hemiparesis, and cognitive deficits.
C165258	Cellosaurus Disease Terminology	C85171	Subacute Sclerosing Panencephalitis	Subacute Sclerosing Panencephalitis		A rare, slowly progressive post-infectious neurological disorder affecting the central nervous system. It is characterized by seizures, ataxia, myoclonus, personality changes, spasticity, and coma. The symptoms appear several years following measles infection at an early age.
C165258	Cellosaurus Disease Terminology	C50757	Subarachnoid Hemorrhage	Subarachnoid Hemorrhage		Intracranial hemorrhage into the subarachnoid space.
C165258	Cellosaurus Disease Terminology	C5977	Submandibular Gland Carcinoma ex Pleomorphic Adenoma	Submandibular Gland Carcinoma ex Pleomorphic Adenoma	Submaxillary Gland Carcinoma ex Pleomorphic Adenoma	A carcinoma that arises from a pleomorphic adenoma in the submandibular gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive.
C165258	Cellosaurus Disease Terminology	C5943	Submandibular Gland Squamous Cell Carcinoma	Submandibular Gland Squamous Cell Carcinoma	Squamous Cell Carcinoma of Submandibular Gland \|\| Squamous Cell Carcinoma of the Submandibular Gland	An invasive squamous cell carcinoma that arises from the submandibular gland. It usually affects elderly patients and presents as a rapidly enlarging tumor mass, often associated with pain.
C165258	Cellosaurus Disease Terminology	C206527	Succinic Semialdehyde Dehydrogenase Deficiency	Succinic Semialdehyde Dehydrogenase Deficiency		An autosomal recessive condition caused by mutation(s) in the ALDH5A1 gene, encoding succinate-semialdehyde dehydrogenase, mitochondrial. It is characterized by intellectual disability, developmental delay, and hypotonia.
C165258	Cellosaurus Disease Terminology	C134951	Suncus Murinus Mammary Tumor	Suncus Murinus Mammary Tumor		A mammary tumor that occurs in Suncus murinus.
C165258	Cellosaurus Disease Terminology	C3360	Supernumerary Circular Chromosome	Supernumerary Circular Chromosome	Ring Chromosome	An aberrant chromosome where the arms have fused to form a ring.
C165258	Cellosaurus Disease Terminology	C206526	Susceptibility to Idiopathic Generalized Epilepsy-10	Susceptibility to Idiopathic Generalized Epilepsy-10		An autosomal dominant susceptibility to idiopathic generalized epilepsy-10, caused by mutation(s) in the GABRD gene, encoding gamma-aminobutyric acid receptor subunit delta. Mutations in the GABRD are also associated with susceptibility to idiopathic generalized epilepsy-10, generalized epilepsy with febrile seizures plus, type 5, and juvenile myoclonic epilepsy-7.
C165258	Cellosaurus Disease Terminology	C179067	Susceptibility to Idiopathic Generalized Epilepsy-15	Susceptibility to Idiopathic Generalized Epilepsy-15		An autosomal dominant susceptibility to idiopathic generalized epilepsy-15, caused by mutation(s) in the RORB gene, encoding nuclear receptor ROR-beta. The condition is characterized by early-onset generalized seizures and may have associated developmental delay.
C165258	Cellosaurus Disease Terminology	C3400	Synovial Sarcoma	Synovial Sarcoma		A malignant neoplasm characterized by the chromosomal translocation t(X;18)(p11;q11). It can occur at any age, but mainly affects young adults, more commonly males. Although any site can be affected, the vast majority of the cases arise in the deep soft tissues of extremities, especially around the knee. Microscopically, synovial sarcoma is classified as monophasic (with a spindle or epithelial cell component) or biphasic (with both spindle and epithelial cell components). Synovial sarcomas can recur or metastasize to the lungs, bones, and lymph nodes.
C165258	Cellosaurus Disease Terminology	C3201	Systemic Lupus Erythematosus	Systemic Lupus Erythematosus	SLE - Lupus Erythematosus, Systemic	An autoimmune multi-organ disease typically associated with vasculopathy and autoantibody production. Most patients have antinuclear antibodies (ANA). The presence of anti-dsDNA or anti-Smith antibodies are highly-specific.
C165258	Cellosaurus Disease Terminology	C9235	Systemic Mastocytosis	Systemic Mastocytosis	Systemic Tissue Mast Cell Disease	Systemic infiltration of extracutaneous sites by clonal mast cells, with or without evidence of skin involvement.
C165258	Cellosaurus Disease Terminology	C72070	Systemic Scleroderma	Systemic Scleroderma	Diffuse Scleroderma \|\| Diffuse Sclerosis \|\| Scleroderma, Diffuse \|\| Scleroderma, Systemic \|\| Systemic Sclerosis	A chronic disorder, possibly autoimmune, marked by excessive production of collagen which results in hardening and thickening of body tissues. The two types of systemic scleroderma, limited cutaneous and diffuse cutaneous are classified with focus on the extent of affected skin. A relationship exists between the extent of skin area affected and degree of internal organ/system involvement. Systemic scleroderma can manifest itself in pulmonary fibrosis, Raynaud's syndrome, digestive system telangiectasias, renal hypertension and/or pulmonary hypertension.
C165258	Cellosaurus Disease Terminology	C3183	T Acute Lymphoblastic Leukemia	T Acute Lymphoblastic Leukemia	Acute T Cell Leukemia \|\| Acute T Cell Lymphoblastic Leukemia \|\| Acute T-Cell Leukemia \|\| Acute T-Cell Lymphoblastic Leukemia \|\| Precursor T-Cell Lymphoblastic Leukemia \|\| Precursor T-Lymphoblastic Leukemia \|\| T-Acute Lymphoblastic Leukemia \|\| T-Cell Acute Lymphoblastic Leukemia \|\| T-Cell Type Acute Leukemia	Acute lymphoblastic leukemia of T-cell origin. It comprises about 15% of childhood cases and 25% of adult cases. It is more common in males than females. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C85181	Takotsubo Cardiomyopathy	Takotsubo Cardiomyopathy	Broken-heart Syndrome \|\| Tako-Tsubo Cardiomyopathy \|\| Takotsubo Syndrome	A rare disorder characterized by transient left ventricular wall systolic dysfunction, resulting in apical ballooning appearance, chest pain, and ST segment elevation.
C165258	Cellosaurus Disease Terminology	C134964	Tamarin Colon Adenocarcinoma	Tamarin Colon Adenocarcinoma		Adenocarcinoma arising in the colon of a tamarin.
C165258	Cellosaurus Disease Terminology	C85182	Tangier Disease	Tangier Disease		A rare, autosomal recessive inherited disorder of cholesterol transport, resulting in severe reduction of the amount of high density lipoprotein in the plasma and accumulation of cholesterol esters in the tissues. Signs and symptoms include large tonsils, hepatosplenomegaly, lymphadenopathy, and hypocholesterolemia.
C165258	Cellosaurus Disease Terminology	C85184	Tay-Sachs Disease	Tay-Sachs Disease	Tay Sachs Disease	A rare, fatal, autosomal recessive lipid storage disorder caused by mutations in the HEXA gene. It is characterized by deficiency of beta-hexosaminidase A, resulting in accumulation of gangliosides in the neurons of the brain and spinal cord. Signs and symptoms include progressive deterioration of the mental and physical abilities early in life, accompanied by blindness, deafness, muscle atrophy, and paralysis.
C165258	Cellosaurus Disease Terminology	C70649	T-Cell Chronic Lymphocytic Leukemia			A slow-growing type of leukemia (blood cancer) in which too many lymphocytes are found in the bone marrow and/or blood. The T-cell is specified as the defective cell line.
C165258	Cellosaurus Disease Terminology	C4664	T-Cell Large Granular Lymphocyte Leukemia	T-Cell Large Granular Lymphocyte Leukemia	Large Cell Granular Lymphoid Leukemia \|\| Large Granular Lymphocytic Leukemia \|\| Large Granular Lymphocytosis \|\| T Gamma Lymphoproliferative Disorder \|\| T Large Granular Lymphocyte Leukemia \|\| T-Cell Large Granular Lymphocytic Leukemia \|\| T-Gamma Lymphoproliferative Disorder \|\| T-Large Granular Lymphocyte Leukemia	A T-cell peripheral neoplasm characterized by a persistent (>6 months) increase in the number of peripheral blood large granular lymphocytes, without a clearly identified cause. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C3466	T-Cell Non-Hodgkin Lymphoma	T-Cell Non-Hodgkin Lymphoma	Non-Hodgkin's T-Cell Lymphoma \|\| T Cell Lymphoma \|\| T-Cell Lymphoma \|\| T-Cell Non-Hodgkin's Lymphoma \|\| T-Cell and NK-Cell Non-Hodgkin Lymphoma \|\| T-Cell and NK-Cell Non-Hodgkin's Lymphoma	A non-Hodgkin lymphoma of T-cell lineage. It includes the T lymphoblastic lymphoma and the mature T- and NK-cell lymphomas.
C165258	Cellosaurus Disease Terminology	C4752	T-Cell Prolymphocytic Leukemia	T-Cell Prolymphocytic Leukemia	T Cell Prolymphocytic Leukemia \|\| T Prolymphocytic Leukemia \|\| T-Prolymphocytic Leukemia	An aggressive T-cell leukemia, characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C3902	Telangiectatic Osteosarcoma	Telangiectatic Osteosarcoma	Malignant Bone Aneurysm \|\| Telangiectatic Osteogenic Sarcoma	An osteosarcoma usually arising from the metaphysis of long bones. It is characterized by the presence of a cystic architecture with blood-filled spaces. The prognosis is similar to that of conventional osteosarcoma.
C165258	Cellosaurus Disease Terminology	C35065	Temporal Arteritis	Temporal Arteritis	Giant Cell Arteritis	An autoimmune, systemic, giant cell granulomatous arteritis predominantly involving the arteries that supply blood to the central nervous system, head and eyes. Superficial arteries of the scalp that are involved tend to be enlarged and tender. Signs and symptoms include headaches, myalgias, visual disturbances, and skin necrosis.
C165258	Cellosaurus Disease Terminology	C177244	Temporal Lobe Epilepsy	Temporal Lobe Epilepsy		A focal seizure disorder affecting the temporal lobe. It is the most common form of partial epilepsy and may be more often seen in patients who have a history of febrile seizures.
C165258	Cellosaurus Disease Terminology	C148371	Temtamy Syndrome	Temtamy Syndrome		An extremely rare autosomal recessive condition caused by mutation(s) in the C12orf57 gene, encoding protein C10. It is characterized by agenesis/hypoplasia of the corpus callosum, associated with developmental delay, and variable craniofacial and skeletal abnormalities.
C165258	Cellosaurus Disease Terminology	C3403	Teratoma	Teratoma		A non-seminomatous germ cell tumor characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). It occurs in the testis, ovary, and extragonadal sites including central nervous system, mediastinum, lung, and stomach. According to the level of differentiation of the tissues which comprise the tumor, teratomas are classified as benign (grade 0 or 1), immature (grade 2), and malignant (grade 3). Grade 0 teratomas contain only mature elements; grade 1 teratomas have a limited degree of immaturity; grade 2 teratomas have a more extensive degree of immaturity; grade 3 teratomas are composed exclusively of immature tissues. The prognosis depends on patient age, tumor size and grade, and stage.
C165258	Cellosaurus Disease Terminology	C7733	Testicular Choriocarcinoma	Testicular Choriocarcinoma	Choriocarcinoma of Testis \|\| Choriocarcinoma of the Testis	A malignant germ cell tumor arising from the testis. It represents the rarest of the testicular germ cell tumors. Histologically it is characterized by the presence of syncytiotrophoblasts and cytotrophoblasts.
C165258	Cellosaurus Disease Terminology	C6341	Testicular Embryonal Carcinoma	Testicular Embryonal Carcinoma	Embryonal Carcinoma of Testis \|\| Embryonal Carcinoma of the Testis	A malignant germ cell neoplasm arising from the testis. It is composed of primitive epithelial cells arranged in solid, papillary, and glandular configurations. Most patients present with a testicular mass, which may be associated with pain. More than half of the patients have metastatic disease at diagnosis. The form of treatment following radical orchiectomy is stage dependent.
C165258	Cellosaurus Disease Terminology	C3404	Testicular Neoplasm	Testicular Neoplasm	Neoplasm of Testis \|\| Neoplasm of the Testis \|\| Testicular Tumor \|\| Tumor of Testis \|\| Tumor of the Testis	A benign or malignant neoplasm that affects the testis. Representative examples include fibroma, thecoma, benign Sertoli cell tumor, seminoma, embryonal carcinoma, sarcoma, leukemia, and lymphoma.
C165258	Cellosaurus Disease Terminology	C7328	Testicular Seminoma	Testicular Seminoma	Seminoma of Testis \|\| Seminoma of the Testis \|\| Testicular Seminoma Pure	A malignant germ cell tumor arising from the testis. It is believed that it is derived from the sexually undifferentiated embryonic gonad. Treatment with radiotherapy is highly successful when the tumor is diagnosed in localized stages, which represents the majority of presentations of seminoma.
C165258	Cellosaurus Disease Terminology	C3877	Testicular Teratoma	Testicular Teratoma	Teratoma of Testis \|\| Teratoma of the Testis	A non-seminomatous germ cell tumor arising from the testis. It is characterized by the presence of various tissues which correspond to the different germinal layers (endoderm, mesoderm, and ectoderm). Testicular teratomas in children follow a benign clinical course whereas in postpubertal patients may metastasize to other anatomic sites.
C165258	Cellosaurus Disease Terminology	C8000	Testicular Yolk Sac Tumor	Testicular Yolk Sac Tumor	Endodermal Sinus Neoplasm of Testis \|\| Endodermal Sinus Neoplasm of the Testis \|\| Endodermal Sinus Tumor of Testis \|\| Endodermal Sinus Tumor of the Testis \|\| Testicular Endodermal Sinus Neoplasm \|\| Testicular Endodermal Sinus Tumor \|\| Testicular Yolk Sac Neoplasm \|\| Yolk Sac Neoplasm of Testis \|\| Yolk Sac Neoplasm of the Testis \|\| Yolk Sac Tumor of Testis \|\| Yolk Sac Tumor of the Testis	A non-seminomatous malignant germ cell tumor arising from the testis. It affects infants, young children, and postpubertal males. It is the most frequently seen testicular neoplasm during childhood. The vast majority of patients present with an asymptomatic scrotal mass. The tumor mimics the yolk sac of the embryo and produces alpha-fetoprotein (AFP). It metastasizes to distant anatomic sites. Prognostic factors relate to the clinical stage and the degree of AFP elevation.
C165258	Cellosaurus Disease Terminology	C84505	Tetralogy of Fallot	Tetralogy of Fallot		A congenital heart disorder characterized by the presence of the following four abnormalities: ventricular septal defect, pulmonary stenosis, overriding aorta, and right ventricular hypertrophy.
C165258	Cellosaurus Disease Terminology	C35069	Thalassemia	Thalassemia		An inherited blood disorder characterized by a decreased synthesis of one of the polypeptide chains that form hemoglobin. Anemia results from this abnormal hemoglobin formation.
C165258	Cellosaurus Disease Terminology	C85187	Thanatophoric Dysplasia	Thanatophoric Dysplasia		A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.
C165258	Cellosaurus Disease Terminology	C8252	Therapy-Related Acute Myeloid Leukemia	Acute Myeloid Leukemia Post Cytotoxic Therapy	Therapy-Related Acute Myeloid Leukemia \|\| Treatment Related AML \|\| Treatment Related Acute Myelogenous Leukemia \|\| Treatment Related Acute Myeloid Leukemia \|\| Treatment-Related AML \|\| Treatment-Related Acute Myelogenous Leukemia \|\| Treatment-related Acute Myeloid Leukemia	An acute myeloid leukemia arising as a result of the mutagenic effect of chemotherapy agents and/or ionizing radiation. (WHO, 2001)
C165258	Cellosaurus Disease Terminology	C27001	Thoracic Aortic Aneurysm	Thoracic Aortic Aneurysm		An aneurysm formed in the wall of the proximal portion of the descending aorta proceeding from the arch of the aorta.
C165258	Cellosaurus Disease Terminology	C177775	Thoracic Chordoma	Thoracic Chordoma		A chordoma that arises from the thoracic spine.
C165258	Cellosaurus Disease Terminology	C158138	Thoracic Endometriosis	Thoracic Endometriosis		A condition characterized by the presence of functioning endometrial tissue in the lung, pleura, chest wall, and/or diaphragm.
C165258	Cellosaurus Disease Terminology	C129035	Thrombocytopenia 2	Thrombocytopenia 2		An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.
C165258	Cellosaurus Disease Terminology	C78797	Thrombotic Thrombocytopenic Purpura	Thrombotic Thrombocytopenic Purpura	Moschowitz Disease	A coagulation disorder characterized by extensive formation of thrombi in small blood vessels throughout the body due to low levels of ADAMTS13 protein, and resulting in consumption of circulating platelets, which is characterized by thrombocytopenia, anemia, neurologic changes, and sometimes fever and renal dysfunction.
C165258	Cellosaurus Disease Terminology	C7569	Thymic Carcinoma	Thymic Carcinoma	Thymic Carcinoma (Excluding Well Differentiated Thymic Carcinoma) \|\| Thymic Carcinoma Excluding Well Differentiated Thymic Carcinoma	A diverse group of carcinomas of the thymus gland, previously known as thymoma type C. It includes morphologic variants derived from purely epithelial cells, as well as from cells with neuroendocrine differentiation.
C165258	Cellosaurus Disease Terminology	C6451	Thymic Lymphoma	Thymic Lymphoma	Lymphoma of Thymus \|\| Lymphoma of the Thymus \|\| Primary Thymic Lymphoma \|\| Thymus Lymphoma	A lymphoma that arises from the thymus. Representative examples include mediastinal (thymic) large B-cell lymphoma and Hodgkin lymphoma.
C165258	Cellosaurus Disease Terminology	C35718	Thymic Undifferentiated Carcinoma	Thymic Undifferentiated Carcinoma		A rare primary thymic carcinoma, characterized by an undifferentiated solid tumor growth, without associated sarcomatoid features.
C165258	Cellosaurus Disease Terminology	C3411	Thymoma	Thymoma		A neoplasm arising from the epithelial cells of the thymus. Although thymomas are usually encapsulated tumors, they may invade the capsule and infiltrate the surrounding tissues or even metastasize to distant anatomic sites. The following morphologic subtypes are currently recognized: type A, type B, type AB, metaplastic, micronodular, microscopic, and sclerosing thymoma. Thymomas type B are further subdivided into types B1, B2, and B3. Thymoma type B3 usually has the most aggressive clinical course.
C165258	Cellosaurus Disease Terminology	C6885	Thymoma Type AB	Thymoma Type AB	Mixed Type Thymoma	A thymic epithelial neoplasm characterized by the presence of a lymphocyte-poor component similar to that seen in type A thymoma and a lymphocyte-rich component which contains neoplastic small polygonal epithelial cells. It may be associated with myasthenia gravis and pure red cell aplasia. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II or stage III tumors. The overall survival is reported to be 80-100% at 5 and 10 years.
C165258	Cellosaurus Disease Terminology	C6887	Thymoma Type B1	Thymoma Type B1	Lymphocyte-Predominant Thymoma \|\| Lymphocyte-Rich Thymoma \|\| Organoid Thymoma \|\| Predominantly Cortical Thymoma	A thymic epithelial neoplasm characterized by the presence of expanded areas which resemble the normal thymic cortex. The neoplastic epithelial cells are small and scant and there is a dense T-lymphocytic component present. Areas of medullary differentiation with or without Hassall's corpuscles are also present. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. It has a low grade malignant potential. The majority of cases occur in the anterior mediastinum as Masaoka stage I tumors. A minority of the cases occur as stage II tumors.
C165258	Cellosaurus Disease Terminology	C3412	Thymus Neoplasm	Thymus Neoplasm	Neoplasm of Thymus \|\| Neoplasm of the Thymus \|\| Thymic Neoplasm \|\| Thymic Tumor \|\| Thymus Tumor \|\| Tumor of Thymus \|\| Tumor of the Thymus	A neoplasm that affects the thymus. Representative examples include thymoma and carcinoma.
C165258	Cellosaurus Disease Terminology	C3878	Thyroid Gland Anaplastic Carcinoma	Thyroid Gland Anaplastic Carcinoma	Anaplastic Carcinoma of Thyroid \|\| Anaplastic Carcinoma of Thyroid Gland \|\| Anaplastic Carcinoma of the Thyroid \|\| Anaplastic Carcinoma of the Thyroid Gland \|\| Anaplastic Follicular Cell Derived Thyroid Carcinoma \|\| Anaplastic Follicular Cell Derived Thyroid Gland Carcinoma \|\| Anaplastic Thyroid Cancer \|\| Anaplastic Thyroid Carcinoma \|\| Anaplastic Thyroid Gland Carcinoma \|\| Dedifferentiated Thyroid Gland Carcinoma \|\| Metaplastic Thyroid Gland Carcinoma \|\| Pleomorphic Thyroid Gland Carcinoma \|\| Sarcomatoid Thyroid Gland Carcinoma \|\| Thyroid Gland Carcinosarcoma \|\| Thyroid Gland Giant Cell Carcinoma \|\| Thyroid Gland Metaplastic Carcinoma \|\| Thyroid Gland Pleomorphic Carcinoma \|\| Thyroid Gland Sarcomatoid Carcinoma \|\| Thyroid Gland Spindle Cell Carcinoma \|\| Thyroid Gland Undifferentiated (Anaplastic) Carcinoma \|\| Undifferentiated (Anaplastic) Thyroid Gland Carcinoma \|\| Undifferentiated Carcinoma of Thyroid \|\| Undifferentiated Carcinoma of Thyroid Gland \|\| Undifferentiated Carcinoma of the Thyroid \|\| Undifferentiated Carcinoma of the Thyroid Gland \|\| Undifferentiated Thyroid Carcinoma \|\| Undifferentiated Thyroid Gland Carcinoma	A primary carcinoma of the thyroid gland composed of undifferentiated cells. The malignant cells demonstrate evidence of epithelial differentiation, either by immunohistochemistry or electron microscopic studies. Microscopically, in the majority of cases there is a mixture of spindle, epithelioid, and giant cells. The vast majority of the patients present with a rapidly enlarging neck mass. The clinical course is usually aggressive.
C165258	Cellosaurus Disease Terminology	C4815	Thyroid Gland Carcinoma	Thyroid Gland Carcinoma	Cancer of Thyroid \|\| Cancer of the Thyroid \|\| Carcinoma of Thyroid \|\| Carcinoma of Thyroid Gland \|\| Carcinoma of the Thyroid \|\| Carcinoma of the Thyroid Gland \|\| Thyroid Cancer \|\| Thyroid Carcinoma \|\| Thyroid Gland Cancer	A carcinoma arising from the thyroid gland. It includes the following main subtypes: follicular, papillary, medullary, poorly differentiated, and anaplastic carcinoma.
C165258	Cellosaurus Disease Terminology	C3502	Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	Adenoma of Thyroid \|\| Adenoma of Thyroid Gland \|\| Adenoma of the Thyroid \|\| Adenoma of the Thyroid Gland \|\| Follicular Adenoma \|\| Follicular Adenoma of Thyroid \|\| Follicular Adenoma of Thyroid Gland \|\| Follicular Adenoma of the Thyroid \|\| Follicular Adenoma of the Thyroid Gland \|\| Thyroid Adenoma \|\| Thyroid Follicular Adenoma \|\| Thyroid Gland Adenoma	A benign, encapsulated neoplasm arising from the follicular cells of the thyroid gland. It may be associated with thyroid hormone secretion but it does not have malignant characteristics.
C165258	Cellosaurus Disease Terminology	C8054	Thyroid Gland Follicular Carcinoma	Thyroid Gland Follicular Carcinoma	Follicular Adenocarcinoma \|\| Follicular Cancer of Thyroid \|\| Follicular Cancer of Thyroid Gland \|\| Follicular Cancer of the Thyroid \|\| Follicular Cancer of the Thyroid Gland \|\| Follicular Carcinoma \|\| Follicular Carcinoma of Thyroid \|\| Follicular Carcinoma of Thyroid Gland \|\| Follicular Carcinoma of the Thyroid \|\| Follicular Carcinoma of the Thyroid Gland \|\| Follicular Thyroid Cancer \|\| Follicular Thyroid Carcinoma \|\| Follicular Thyroid Gland Carcinoma \|\| Thyroid Follicular Carcinoma \|\| Well-Differentiated Follicular Adenocarcinoma \|\| Well-Differentiated Follicular Carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. The nuclear features which characterize the thyroid gland papillary carcinoma are absent. Radiation exposure is a risk factor and it comprises approximately 10% to 15% of thyroid cancers. Clinically, it usually presents as a solitary mass in the thyroid gland. It is generally unifocal and thickly encapsulated and shows invasion of the capsule or the vessels. Diagnostic procedures include thyroid ultrasound and fine needle biopsy.
C165258	Cellosaurus Disease Terminology	C4946	Thyroid Gland Hurthle Cell Carcinoma	Thyroid Gland Oncocytic Carcinoma	Hurthle Cell Carcinoma of Thyroid \|\| Hurthle Cell Carcinoma of Thyroid Gland \|\| Hurthle Cell Carcinoma of the Thyroid \|\| Hurthle Cell Carcinoma of the Thyroid Gland \|\| Hurthle Cell Thyroid Gland Carcinoma \|\| Oncocytic Carcinoma of Thyroid \|\| Oncocytic Carcinoma of the Thyroid \|\| Thyroid Gland Hurthle Cell Carcinoma \|\| Thyroid Gland Oncocytic Follicular Carcinoma \|\| Thyroid Hurthle Cell Carcinoma \|\| Thyroid Oncocytic Carcinoma	A follicular carcinoma of the thyroid gland, characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. The nuclear features that characterize the papillary carcinomas of the thyroid gland are absent.
C165258	Cellosaurus Disease Terminology	C4161	Thyroid Gland Macrofollicular Adenoma	Thyroid Gland Macrofollicular Adenoma	Colloid Adenoma \|\| Macrofollicular Adenoma	A thyroid gland adenoma composed of large size follicles.
C165258	Cellosaurus Disease Terminology	C3879	Thyroid Gland Medullary Carcinoma	Thyroid Gland Medullary Carcinoma	C Cell Carcinoma \|\| C-Cell Carcinoma \|\| Medullary Carcinoma \|\| Medullary Carcinoma of Thyroid \|\| Medullary Carcinoma of Thyroid Gland \|\| Medullary Carcinoma of the Thyroid \|\| Medullary Carcinoma of the Thyroid Gland \|\| Medullary Thyroid Cancer \|\| Medullary Thyroid Carcinoma \|\| Medullary Thyroid Gland Carcinoma \|\| Parafollicular Cell Carcinoma \|\| Thyroid Gland Neuroendocrine Carcinoma \|\| Thyroid Medullary Carcinoma	A neuroendocrine carcinoma arising from the C-cells of the thyroid gland. It is closely associated with multiple endocrine neoplasia syndromes. Approximately 10% to 20% of medullary thyroid carcinomas are familial. Patients usually present with a thyroid nodule that is painless and firm. In the majority of cases nodal involvement is present at diagnosis. Surgery is the preferred treatment for both primary lesions and recurrences. This carcinoma is generally not very sensitive to radiation and almost unresponsive to chemotherapy.
C165258	Cellosaurus Disease Terminology	C4035	Thyroid Gland Papillary Carcinoma	Thyroid Gland Papillary Carcinoma	Papillary Cancer of Thyroid \|\| Papillary Cancer of Thyroid Gland \|\| Papillary Cancer of the Thyroid \|\| Papillary Cancer of the Thyroid Gland \|\| Papillary Carcinoma of Thyroid \|\| Papillary Carcinoma of Thyroid Gland \|\| Papillary Carcinoma of the Thyroid \|\| Papillary Carcinoma of the Thyroid Gland \|\| Papillary Thyroid Cancer \|\| Papillary Thyroid Carcinoma \|\| Papillary Thyroid Gland Carcinoma \|\| Thyroid Papillary Carcinoma	A differentiated adenocarcinoma arising from the follicular cells of the thyroid gland. Radiation exposure is a risk factor and it is the most common malignant thyroid lesion, comprising 75% to 80% of all thyroid cancers in iodine sufficient countries. Diagnostic procedures include thyroid ultrasound and fine needle biopsy. Microscopically, the diagnosis is based on the distinct characteristics of the malignant cells, which include enlargement, oval shape, elongation, and overlapping of the nuclei. The nuclei also display clearing or have a ground glass appearance.
C165258	Cellosaurus Disease Terminology	C6041	Thyroid Gland Sarcoma	Thyroid Gland Sarcoma	Sarcoma of Thyroid \|\| Sarcoma of Thyroid Gland \|\| Sarcoma of the Thyroid \|\| Sarcoma of the Thyroid Gland \|\| Thyroid Sarcoma	A malignant mesenchymal neoplasm primarily involving the thyroid gland.
C165258	Cellosaurus Disease Terminology	C46008	Thyroid Gland Squamous Cell Carcinoma	Thyroid Gland Anaplastic Carcinoma, Squamous Cell Carcinoma Pattern	Thyroid Gland Squamous Cell Carcinoma	Thyroid gland anaplastic carcinoma with focal or complete squamous differentiation. Primary thyroid gland squamous cell carcinomas have similar poor overall survival rates as compared to conventional anaplastic thyroid gland carcinomas and are now considered a subtype of the latter.
C165258	Cellosaurus Disease Terminology	C173807	Tongue Adenosquamous Carcinoma	Tongue Adenosquamous Carcinoma		A rare adenosquamous carcinoma that arises from the tongue.
C165258	Cellosaurus Disease Terminology	C4648	Tongue Squamous Cell Carcinoma	Tongue Squamous Cell Carcinoma	SCC of Tongue \|\| SCC of the Tongue \|\| Squamous Cell Carcinoma of Tongue \|\| Squamous Cell Carcinoma of the Tongue \|\| Tongue SCC	A squamous cell carcinoma that arises from the tongue. It usually presents as a painful ulcerated or nodular lesion. The size of the tumor and the status of the lymph nodes are the most important factors that determine prognosis.
C165258	Cellosaurus Disease Terminology	C3417	Tonsillar Neoplasm	Tonsillar Neoplasm	Neoplasm of Tonsil \|\| Neoplasm of the Tonsil \|\| Tonsil Neoplasm \|\| Tonsil Tumor \|\| Tonsillar Neoplasms \|\| Tonsillar Tumor \|\| Tumor of Tonsil \|\| Tumor of the Tonsil	A benign or malignant neoplasm that affects the tonsil.
C165258	Cellosaurus Disease Terminology	C8183	Tonsillar Squamous Cell Carcinoma	Tonsillar Squamous Cell Carcinoma	SCC of Tonsil \|\| SCC of the Tonsil \|\| Squamous Cell Carcinoma of Tonsil \|\| Squamous Cell Carcinoma of the Tonsil \|\| Tonsil SCC \|\| Tonsil Squamous Cell Carcinoma \|\| Tonsillar SCC	A squamous cell carcinoma that arises from the mucosal lining of the tonsil and tends to metastasize early to the lymph nodes. It predominantly affects middle aged and elderly patients who have a history of alcohol and tobacco use. Patients may present with tonsillar swelling, sore throat, pain radiating to the ipsilateral ear, or a neck mass.
C165258	Cellosaurus Disease Terminology	C156361	Torsion Dystonia 6	Torsion Dystonia 6		An autosomal dominant condition caused by mutation(s) in the THAP1 gene, encoding THAP domain-containing protein 1. It is characterized by dystonic craniofacial movements, dysarthria, and dysphagia. Limb involvement is common.
C165258	Cellosaurus Disease Terminology	C98585	Total Anomalous Pulmonary Venous Return	Total Anomalous Pulmonary Venous Return		A rare congenital heart disorder in which all four pulmonary veins are not connected to the left atrium and drain into the systemic veins or the right atrium instead. Infants present with cyanosis, lethargy, tachypnea, respiratory infections, and poor growth.
C165258	Cellosaurus Disease Terminology	C35078	Tourette Syndrome	Tourette Syndrome	Tourette's Syndrome	A neurologic disorder caused by defective metabolism of the neurotransmitters in the brain. It is characterized by repeated involuntary movements (motor tics) and uncontrollable vocal sounds (vocal tics). The symptoms are usually manifested before the age of eighteen.
C165258	Cellosaurus Disease Terminology	C142806	Transcobalamin II Deficiency	Transcobalamin II Deficiency		An autosomal recessive condition caused by mutation(s) in the TCN2 gene, encoding transcobalamin-2. it is characterized by failure to thrive, megaloblastic anemia, and pancytopenia.
C165258	Cellosaurus Disease Terminology	C202133	Transformed EGFR-Positive Lung Adenocarcinoma to Small Cell Carcinoma	Transformed EGFR-Positive Lung Adenocarcinoma to Small Cell Carcinoma	Transformed EGFR-Positive Lung Adenocarcinoma to Lung Small Cell Carcinoma	Histologic transformation of EGFR mutation-positive lung adenocarcinoma to small cell carcinoma, following treatment with tyrosine kinase inhibitors.
C165258	Cellosaurus Disease Terminology	C202128	Transformed EGFR-Positive Lung Adenocarcinoma to Squamous Cell Carcinoma	Transformed EGFR-Positive Lung Adenocarcinoma to Squamous Cell Carcinoma	Transformed EGFR-Positive Lung Adenocarcinoma to Lung Squamous Cell Carcinoma	Histologic transformation of EGFR mutation-positive lung adenocarcinoma to squamous cell carcinoma, following treatment with tyrosine kinase inhibitors.
C165258	Cellosaurus Disease Terminology	C82339	Transient Abnormal Myelopoiesis Associated with Down Syndrome	Transient Abnormal Myelopoiesis Associated with Down Syndrome	Transient Myeloproliferative Disorder	A myeloid proliferation occurring in newborns with Down syndrome. It is clinically and morphologically indistinguishable from acute myeloid leukemia and is associated with GATA1 mutations. The blasts display morphologic and immunophenotypic features of megakaryocytic lineage. In the majority of patients the myeloid proliferation undergoes spontaneous remission.
C165258	Cellosaurus Disease Terminology	C50781	Transient Ischemic Attack	Transient Ischemic Attack		A brief attack (from a few minutes to an hour) of cerebral dysfunction of vascular origin, with no persistent neurological deficit.
C165258	Cellosaurus Disease Terminology	C64161	Transitional Cell Carcinoma of the Rat Urinary Bladder	Transitional Cell Carcinoma of the Rat Urinary Bladder	Rat Urinary Bladder Transitional Cell Carcinoma
C165258	Cellosaurus Disease Terminology	C84742	Transposition of Great Vessels	Transposition of Great Vessels	Great Vessels Transposition	A congenital cardiac defect in which two heart vessels are reversed (transposed).
C165258	Cellosaurus Disease Terminology	C75018	Treacher Collins Syndrome	Treacher Collins Syndrome	Mandibulofacial Dysostosis	A rare autosomal dominant syndrome caused by mutations in the TCOF1 gene. Its characteristics include underdevelopment of the facial bones, small jaw and chin, absent or small ears, defects in the middle ear resulting in hearing loss, and downward sloping palpebral fissures.
C165258	Cellosaurus Disease Terminology	C4113	Trichilemmoma	Trichilemmoma	Tricholemmoma	A benign neoplasm arising from the outer hair sheath and infundibulum. It occurs in the head and neck, usually on the face. It usually presents as an exophytic wart-like lesion or a dome-shaped lesion with a smooth surface. Morphologically, it is characterized by the proliferation of cuboidal cells with clear or eosinophilic cytoplasm in the dermis with connection to the epidermis/hair follicle. There is peripheral cellular palisading, and the lesion is surrounded by a hyaline band.
C165258	Cellosaurus Disease Terminology	C21817	Trichoepithelioma Type of Basaloid Follicular Neoplasm of the Mouse Skin	Trichoepithelioma Type of Basaloid Follicular Neoplasm of the Mouse Skin
C165258	Cellosaurus Disease Terminology	C75109	Trichorhinophalangeal Syndrome Type I	Trichorhinophalangeal Syndrome Type I		A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and elongated philtrum), skeletal abnormalities (cone-shaped epiphyses, hip malformation), short stature, and mild growth retardation.
C165258	Cellosaurus Disease Terminology	C75118	Trichorhinophalangeal Syndrome Type II	Trichorhinophalangeal Syndrome Type II	Langer-Giedion Syndrome	A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.
C165258	Cellosaurus Disease Terminology	C4924	Trichothiodystrophy	Trichothiodystrophy	Trichothiodystrophy Syndrome	A rare, autosomal recessive inherited syndrome characterized by brittle hair, mental and physical retardation, and decreased fertility.
C165258	Cellosaurus Disease Terminology	C156433	Trichothiodystrophy 1, Photosensitive	Trichothiodystrophy 1, Photosensitive		An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC2 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPD.
C165258	Cellosaurus Disease Terminology	C173103	Trichothiodystrophy 2, Photosensitive	Trichothiodystrophy 2, Photosensitive		An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the ERCC3 gene, encoding general transcription and DNA repair factor IIH helicase subunit XPB.
C165258	Cellosaurus Disease Terminology	C173099	Trichothiodystrophy 3, Photosensitive	Trichothiodystrophy 3, Photosensitive		An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the GTF2H5 gene, encoding general transcription factor IIH subunit 5.
C165258	Cellosaurus Disease Terminology	C146899	Trichothiodystrophy 4, Nonphotosensitive	Trichothiodystrophy 4, Nonphotosensitive		A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, encoding M-phase-specific PLK1-interacting protein.
C165258	Cellosaurus Disease Terminology	C173102	Trichothiodystrophy 7, Nonphotosensitive	Trichothiodystrophy 7, Nonphotosensitive		An autosomal recessive subtype of trichothiodystrophy caused by mutation(s) in the TARS1 gene, encoding threonine-tRNA ligase 1, cytoplasmic.
C165258	Cellosaurus Disease Terminology	C85202	Tricuspid Valve Atresia	Tricuspid Valve Atresia	Tricuspid Atresia	A congenital heart defect characterized by the complete lack of formation of the tricuspid valve. Cyanosis is the predominant clinical symptom.
C165258	Cellosaurus Disease Terminology	C131652	Triosephosphate Isomerase Deficiency	Triosephosphate Isomerase Deficiency	TP1 Deficiency \|\| Triosephosphate-Isomerase Deficiency	An autosomal recessive condition caused by mutation(s) in the TPI1 gene, encoding triosephosphate isomerase. It is characterized by congenital hemolytic anemia and progressive neuromuscular dysfunction.
C165258	Cellosaurus Disease Terminology	C35710	Triple A Syndrome	Triple A Syndrome	Allgrove Syndrome	An autosomal recessive condition caused by mutation(s) in the AAAS gene encoding the protein ALADIN, and characterized by primary adrenal insufficiency, esophageal dysmotility, and absence of tear production.
C165258	Cellosaurus Disease Terminology	C71732	Triple-Negative Breast Carcinoma	Triple-Negative Breast Carcinoma	Triple Negative Breast Carcinoma \|\| Triple-Negative Breast Cancer	An invasive breast carcinoma which is negative for expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2).
C165258	Cellosaurus Disease Terminology	C85204	Triploidy Syndrome	Triploidy Syndrome	Triploid Syndrome	A very rare congenital syndrome characterized by the presence of three haploid sets of chromosomes. The surviving infants have multiple severe birth defects.
C165258	Cellosaurus Disease Terminology	C36420	Trisomy 12	Trisomy 12		A chromosomal abnormality consisting of the presence of a third copy of chromosome 12 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36529	Trisomy 13	Trisomy 13		A chromosomal abnormality characterized by the presence of three copies of genetic material for chromosome 13, instead of the normal two. It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities.
C165258	Cellosaurus Disease Terminology	C116344	Trisomy 14	Trisomy 14		A chromosomal abnormality consisting of the presence of a third copy of chromosome 14 in somatic cells.
C165258	Cellosaurus Disease Terminology	C84283	Trisomy 15	Trisomy 15		A chromosomal abnormality consisting of the presence of a third copy of chromosome 15 in somatic cells.
C165258	Cellosaurus Disease Terminology	C37866	Trisomy 16	Trisomy 16		A chromosomal abnormality consisting of the presence of a third copy of chromosome 16 in somatic cells.
C165258	Cellosaurus Disease Terminology	C37865	Trisomy 17	Trisomy 17		A chromosomal abnormality consisting of the presence of a third copy of chromosome 17 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36626	Trisomy 18	Trisomy 18		A chromosomal abnormality consisting of the presence of a third copy of chromosome 18 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36495	Trisomy 2	Trisomy 2		A chromosomal abnormality consisting of the presence of a third copy of chromosome 2 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36397	Trisomy 20	Trisomy 20		A chromosomal abnormality consisting of the presence of a third copy of chromosome 20 in somatic cells.
C165258	Cellosaurus Disease Terminology	C43224	Trisomy 21	Trisomy 21		A chromosomal abnormality consisting of the presence of a third copy of chromosome 21 in somatic cells.
C165258	Cellosaurus Disease Terminology	C114765	Trisomy 22	Trisomy 22		A chromosomal abnormality consisting of the presence of a third copy of chromosome 22 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36425	Trisomy 3	Trisomy 3		A chromosomal abnormality consisting of the presence of a third copy of chromosome 3 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36433	Trisomy 5	Trisomy 5		A chromosomal abnormality consisting of the presence of a third copy of chromosome 5 in somatic cells.
C165258	Cellosaurus Disease Terminology	C36396	Trisomy 8	Trisomy 8	tri8	A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells.
C165258	Cellosaurus Disease Terminology	C84282	Trisomy 9	Trisomy 9		A chromosomal abnormality consisting of the presence of a third copy of chromosome 9 in somatic cells.
C165258	Cellosaurus Disease Terminology	C85207	True Hermaphroditism	True Hermaphroditism		A rare condition characterized by the unequivocal presence of both testicular and ovarian tissues in an individual. It is usually manifested with ambiguous external genitalia.
C165258	Cellosaurus Disease Terminology	C3424	Tuberous Sclerosis	Tuberous Sclerosis	Bourneville's Disease \|\| Tuberous Sclerosis Complex	Hereditary disease characterized by seizures, mental retardation, developmental delay, and skin and ocular lesions. First signs usually occur during infancy or childhood but in rare cases may not occur until 2nd or 3rd decade.
C165258	Cellosaurus Disease Terminology	C75122	Tuberous Sclerosis 1	Tuberous Sclerosis 1		Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene).
C165258	Cellosaurus Disease Terminology	C75331	Tuberous Sclerosis 2	Tuberous Sclerosis 2		Tuberous sclerosis mapped to chromosome 16p13.3 (TSC2 gene).
C165258	Cellosaurus Disease Terminology	C3938	Turcot Syndrome	Turcot Syndrome		An autosomal dominant hereditary neoplastic syndrome caused by mutations in the PMS2, MLH1, MSH2, or APC genes. There are two types described, type 1, characterized by the presence of glioblastoma and often associated with hereditary nonpolyposis colorectal carcinoma, and type 2, characterized by the presence of medulloblastoma and familiar adenomatous polyposis.
C165258	Cellosaurus Disease Terminology	C26900	Turner Syndrome	Turner Syndrome	Gonadal Dysgenesis	A gonadal dysgenesis syndrome occurring in phenotypic females, characterized by the absence of a part or all of one of the sex chromosomes. Signs and symptoms include short stature, webbing of neck, low-set ears, hypogonadism, and sterility.
C165258	Cellosaurus Disease Terminology	C135001	Turtle Neoplasm	Turtle Neoplasm		A neoplasm that occurs in a turtle.
C165258	Cellosaurus Disease Terminology	C113824	Twin-Twin Transfusion Syndrome	Twin-Twin Transfusion Syndrome	Placental Transfusion Syndrome \|\| Stuck Twin Syndrome	A condition which occurs in monozygotic twins in which one of the fetuses supplies the majority of the cardiac output to its co-twin through its umbilical artery. The recipient twin has only rudimentary organs and structure and is not viable.
C165258	Cellosaurus Disease Terminology	C2986	Type 1 Diabetes Mellitus	Type 1 Diabetes Mellitus	Insulin Dependent Diabetes \|\| Insulin Dependent Diabetes Mellitus \|\| Juvenile Diabetes \|\| Type 1 Diabetes \|\| Type I Diabetes \|\| Type I Diabetes Mellitus	A chronic condition characterized by minimal or absent production of insulin by the pancreas.
C165258	Cellosaurus Disease Terminology	C26747	Type 2 Diabetes Mellitus	Type 2 Diabetes Mellitus	Adult-Onset Diabetes \|\| Diabetes, Type 2 \|\| NIDDM \|\| Non-Insulin Dependent Diabetes \|\| Non-Insulin Dependent Diabetes Mellitus \|\| T2DM - Type 2 Diabetes mellitus \|\| Type 2 Diabetes \|\| Type 2 Diabetes Mellitus Non-Insulin Dependent \|\| Type II Diabetes \|\| Type II Diabetes Mellitus	A type of diabetes mellitus that is characterized by insulin resistance or desensitization and increased blood glucose levels. This is a chronic disease that can develop gradually over the life of a patient and can be linked to both environmental factors and heredity.
C165258	Cellosaurus Disease Terminology	C99099	Type I Acrocephalosyndactyly	Type I Acrocephalosyndactyly	Apert Syndrome	An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR2 gene. It is characterized by early closure of the sutures between the skull bones, bulging eyes, low-set ears, fusion of the second, third, and forth fingers, and fusion of the toes.
C165258	Cellosaurus Disease Terminology	C3816	Type II Achondrogenesis	Type II Achondrogenesis	Achondrogenesis, Type II \|\| Hypochondrogenesis \|\| Langer-Saldino Achondrogenesis	An autosomal dominant condition caused by mutation(s) in the COL2A1 gene, encoding collagen alpha-1(II) chain. It is the most severe of a spectrum of disorders caused by mutations in the COL2A1 gene, characterized by short limbs, small chest and lungs, and abnormal ossification of the spine and pelvis. Often, infants die at birth or shortly thereafter.
C165258	Cellosaurus Disease Terminology	C75034	Type III Acrocephalosyndactyly	Type III Acrocephalosyndactyly	Saethre-Chotzen Syndrome	A rare autosomal dominant syndrome caused by mutations in the TWIST1 gene. It is characterized by premature closure of skull bones resulting in abnormally shaped head, high forehead, hypertelorism, and facial asymmetry. It may be associated with fusion of certain fingers or toes.
C165258	Cellosaurus Disease Terminology	C99100	Type V Acrocephalosyndactyly	Type V Acrocephalosyndactyly	Noack Syndrome \|\| Pfeiffer Syndrome	An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.
C165258	Cellosaurus Disease Terminology	C157158	Tyrosine Hydroxylase Deficiency	Tyrosine Hydroxylase Deficiency	Dystonia, Dopa-Responsive, Autosomal Recessive \|\| Parkinsonism, Infantile, Autosomal Recessive \|\| Segawa Syndrome, Autosomal Recessive	An autosomal recessive condition caused by mutation(s) in the TH gene, encoding tyrosine 3-monooxygenase. It is characterized by onset in infancy of dopa-responsive dystonia.
C165258	Cellosaurus Disease Terminology	C98641	Tyrosinemia Type I	Tyrosinemia Type I	Type I Tyrosinemia	Tyrosinemia caused by mutations in the FAH gene. It is characterized by deficiency of the enzyme fumarylacetoacetate hydrolase. It is the most severe form of tyrosinemia. Signs and symptoms appear early in life and include failure to thrive, vomiting, diarrhea, jaundice, and bleeding tendency. It may result in liver and kidney failure. Patients with this type of tyrosinemia may also have a predisposition for hepatocellular carcinoma.
C165258	Cellosaurus Disease Terminology	C129032	Tyrosinemia Type II	Tyrosinemia Type II		Tyrosinemia caused by mutation(s) in the TAT gene, encoding tyrosine aminotransferase. The inheritance is autosomal recessive.
C165258	Cellosaurus Disease Terminology	C2952	Ulcerative Colitis	Ulcerative Colitis		An inflammatory bowel disease involving the mucosal surface of the large intestine and rectum. It may present with an acute or slow onset and follows an intermittent or continuous course. Signs and symptoms include abdominal pain, diarrhea, fever, weight loss, and intestinal hemorrhage.
C165258	Cellosaurus Disease Terminology	C123438	Ullrich Congenital Muscular Dystrophy	Ullrich Congenital Muscular Dystrophy	Scleroatonic Ullrich Disease	A rare, autosomal recessive inherited disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. Signs and symptoms usually appear at birth or early infancy. Affected individuals have severe muscle weakness, multiple contractures, and hypermobility in their distal joints.
C165258	Cellosaurus Disease Terminology	C4247	Undifferentiated Pleomorphic Sarcoma	Undifferentiated Pleomorphic Sarcoma	Storiform-Pleomorphic Malignant Fibrous Histiocytoma \|\| Unclassified Pleomorphic Sarcoma \|\| Unclassified Pleomorphic Sarcoma (Formerly "MFH") \|\| Unclassified Pleomorphic Sarcoma (Formerly "Malignant Fibrous Histiocytoma") \|\| Undifferentiated Pleomorphic Soft Tissue Sarcoma	An undifferentiated soft tissue sarcoma characterized by the presence of a pleomorphic malignant cellular infiltrate. It is also known as malignant fibrous histiocytoma.
C165258	Cellosaurus Disease Terminology	C8714	Unilateral Retinoblastoma	Unilateral Retinoblastoma		A retinoblastoma that only involves a single eye.
C165258	Cellosaurus Disease Terminology	C35094	Unipolar Depression	Unipolar Depression	Major Depression \|\| Major Depressive Disorder	A mood disorder having a clinical course involving one or more episodes of serious psychological depression that last two or more weeks each, do not have intervening episodes of mania or hypomania, and are characterized by a loss of interest or pleasure in almost all activities and by some or all of disturbances of appetite, sleep, or psychomotor functioning, a decrease in energy, difficulties in thinking or making decisions, loss of self-esteem or feelings of guilt, and suicidal thoughts or attempts.
C165258	Cellosaurus Disease Terminology	C8173	Upper Gingival Squamous Cell Carcinoma	Upper Gingival Squamous Cell Carcinoma	SCC of Upper Gingiva \|\| SCC of Upper Gum \|\| SCC of the Upper Gingiva \|\| SCC of the Upper Gum \|\| Squamous Cell Carcinoma of Upper Gingiva \|\| Squamous Cell Carcinoma of Upper Gum \|\| Squamous Cell Carcinoma of the Upper Gingiva \|\| Squamous Cell Carcinoma of the Upper Gum \|\| Upper Gingival SCC \|\| Upper Gum SCC \|\| Upper Gum Squamous Cell Carcinoma	A squamous cell carcinoma of the oral cavity that arises from the upper gingiva.
C165258	Cellosaurus Disease Terminology	C8993	Ureter Carcinoma	Ureter Carcinoma	Carcinoma of Ureter \|\| Carcinoma of the Ureter \|\| Ureteral Carcinoma	A carcinoma of the ureter. The majority of ureter carcinomas are transitional cell and less frequently squamous cell carcinomas or adenocarcinomas.
C165258	Cellosaurus Disease Terminology	C4830	Ureter Urothelial Carcinoma	Ureter Urothelial Carcinoma	Transitional Cell Carcinoma of Ureter \|\| Transitional Cell Carcinoma of the Ureter \|\| Ureter Transitional Cell Carcinoma \|\| Ureteral Transitional Cell Carcinoma \|\| Ureteral Urothelial Cell Carcinoma \|\| Urothelial Cell Carcinoma of Ureter \|\| Urothelial Cell Carcinoma of the Ureter	A carcinoma that arises from the urothelial lining of the ureter.
C165258	Cellosaurus Disease Terminology	C6166	Urethral Urothelial Carcinoma	Urethral Urothelial Carcinoma	Transitional Cell Carcinoma of Urethra \|\| Transitional Cell Carcinoma of the Urethra \|\| Urethra Transitional Cell Carcinoma \|\| Urethral Transitional Cell Carcinoma	A urothelial carcinoma that arises from the male or female urethra.
C165258	Cellosaurus Disease Terminology	C114688	Urolithiasis	Urolithiasis		Stone(s) within the urinary tract.
C165258	Cellosaurus Disease Terminology	C85217	Usher Syndrome	Usher Syndrome		A rare, autosomal recessive inherited syndrome caused by mutations in the CDH23, CLRN1, GPR98, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes. It is characterized by hearing loss or deafness and progressive loss of vision. The loss of vision is the result of retinitis pigmentosa.
C165258	Cellosaurus Disease Terminology	C126327	Usher Syndrome Type 1	Usher Syndrome Type 1		A syndrome characterized by congenital, bilateral, severe sensorineural hearing loss, abnormalities in the vestibular system, and adolescent-onset retinitis pigmentosa.
C165258	Cellosaurus Disease Terminology	C126328	Usher Syndrome Type 2	Usher Syndrome Type 2		A syndrome characterized by congenital, bilateral sensorineural hearing loss that is mild to moderate in the low frequencies and severe to profound in the higher frequencies, no abnormalities in the vestibular system, and retinitis pigmentosa.
C165258	Cellosaurus Disease Terminology	C153174	Usher Syndrome Type 2C	Usher Syndrome Type 2C		An autosomal recessive sub-type of Usher syndrome caused by homozygous or compound heterozygous mutation(s) in the ADGRV1 gene, encoding adhesion G protein-coupled receptor V1. It may also result from biallelic digenic mutation(s) in ADGRV1 and PDZD7, which encodes PDZ domain-containing protein 7.
C165258	Cellosaurus Disease Terminology	C42700	Uterine Carcinosarcoma	Uterine Carcinosarcoma	Carcinosarcoma of the Uterus \|\| Malignant Mixed Mesodermal (Mullerian) Tumor of the Uterus \|\| Malignant Mixed Mesodermal (M�llerian) Tumor of the Uterus \|\| Uterine Malignant Mixed Mesodermal (Mullerian) Tumor \|\| Uterine Malignant Mixed Mesodermal (M�llerian) Tumor	A usually aggressive malignant neoplasm arising from the uterine corpus and less often the cervix. It is characterized by the presence of two components: a malignant epithelial component and a sarcomatous component. In the uterine corpus the epithelial component is usually glandular whereas in the cervix is usually non-glandular. Carcinosarcoma of the cervix, although it is aggressive, it may have a better prognosis compared to the uterine corpus carcinosarcoma.
C165258	Cellosaurus Disease Terminology	C3434	Uterine Corpus Leiomyoma	Uterine Corpus Leiomyoma	Body of Uterus Fibroid \|\| Body of Uterus Leiomyoma \|\| Corpus Uteri Fibroid \|\| Corpus Uteri Leiomyoma \|\| Fibroid of Body of Uterus \|\| Fibroid of Corpus Uteri \|\| Fibroid of Uterine Body \|\| Fibroid of Uterine Corpus \|\| Fibroid of the Body of Uterus \|\| Fibroid of the Corpus Uteri \|\| Fibroid of the Uterine Body \|\| Fibroid of the Uterine Corpus \|\| Leiomyoma of Body of Uterus \|\| Leiomyoma of Corpus Uteri \|\| Leiomyoma of Uterine Body \|\| Leiomyoma of Uterine Corpus \|\| Leiomyoma of the Body of Uterus \|\| Leiomyoma of the Corpus Uteri \|\| Leiomyoma of the Uterine Body \|\| Leiomyoma of the Uterine Corpus \|\| Uterine Body Fibroid \|\| Uterine Body Leiomyoma \|\| Uterine Corpus Fibroid \|\| Uterine Corpus Leiomyomata \|\| Uterine Fibroid	A benign smooth muscle neoplasm arising from the body of the uterus. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.
C165258	Cellosaurus Disease Terminology	C6340	Uterine Corpus Leiomyosarcoma	Uterine Corpus Leiomyosarcoma	Body of Uterus Leiomyosarcoma \|\| Corpus Uteri Leiomyosarcoma \|\| Leiomyosarcoma of Body of Uterus \|\| Leiomyosarcoma of Corpus Uteri \|\| Leiomyosarcoma of Uterine Body \|\| Leiomyosarcoma of Uterine Corpus \|\| Leiomyosarcoma of Uterus \|\| Leiomyosarcoma of the Body of Uterus \|\| Leiomyosarcoma of the Corpus Uteri \|\| Leiomyosarcoma of the Uterine Body \|\| Leiomyosarcoma of the Uterine Corpus \|\| Leiomyosarcoma of the Uterus \|\| Uterine Body Leiomyosarcoma	An aggressive malignant smooth muscle neoplasm, arising from the uterine corpus. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C6339	Uterine Corpus Sarcoma	Uterine Corpus Sarcoma	Body of Uterus Sarcoma \|\| Corpus Uteri Sarcoma \|\| Sarcoma of Body of Uterus \|\| Sarcoma of Corpus Uteri \|\| Sarcoma of Uterine Body \|\| Sarcoma of Uterine Corpus \|\| Sarcoma of Uterus \|\| Sarcoma of the Body of Uterus \|\| Sarcoma of the Corpus Uteri \|\| Sarcoma of the Uterine Body \|\| Sarcoma of the Uterine Corpus \|\| Sarcoma of the Uterus \|\| Uterine Body Sarcoma \|\| Uterine Sarcoma \|\| Uterus Sarcoma	A malignant mesenchymal neoplasm arising from the wall of the uterine corpus (uterine body). The most representative examples are leiomyosarcoma and endometrial stromal sarcoma.
C165258	Cellosaurus Disease Terminology	C7712	Uveal Melanoma	Uveal Melanoma	Intraocular Melanoma \|\| Melanoma of Uvea \|\| Melanoma of the Uvea \|\| Uveal Tract Melanoma	A melanoma derived from melanocytes of the uveal tract. It is the most common primary intraocular tumor in the United States and Western Europe. Similar to melanoma of the skin, it is rare in Africa and Asia. Diagnostic procedures include ophthalmoscopic exam, fluorescein angiography and ultrasound. Treatment includes: surgical excision of the eye, iridocyclectomy and tumor resection. Recent treatments also include radiotherapy or photo coagulation. Classification of uveal melanomas recognizes four cell types within these tumors: epithelioid, intermediate, mixed cell, and spindle cell types. The spindle cell type uveal melanomas are further sub-classified as spindle cell type A and spindle cell type B.
C165258	Cellosaurus Disease Terminology	C173106	UV-Sensitive Syndrome 1	UV-Sensitive Syndrome 1		An autosomal recessive condition caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6. It is characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors.
C165258	Cellosaurus Disease Terminology	C173110	UV-Sensitive Syndrome 2	UV-Sensitive Syndrome 2		An autosomal recessive condition caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8. It is characterized by cutaneous photosensitivity and increased freckling, without an increased risk of skin tumors.
C165258	Cellosaurus Disease Terminology	C173107	UV-Sensitive Syndrome 3	UV-Sensitive Syndrome 3		An autosomal recessive condition caused by mutation(s) in the UVSSA gene, encoding UV-stimulated scaffold protein A. it is characterized by cutaneous photosensitivity and slight dyspigmentation, without an increased risk of skin tumors.
C165258	Cellosaurus Disease Terminology	C99105	VACTERL Association	VACTERL Association	VATER Association \|\| VATER Syndrome	An association of congenital birth defects that includes vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal abnormalities, and limb abnormalities.
C165258	Cellosaurus Disease Terminology	C27394	Vaginal Melanoma	Vaginal Melanoma	Melanoma of Vagina \|\| Melanoma of the Vagina	A primary malignant neoplasm of the vagina composed of malignant melanocytes.
C165258	Cellosaurus Disease Terminology	C7736	Vaginal Squamous Cell Carcinoma, Not Otherwise Specified	Vaginal Squamous Cell Carcinoma, Not Otherwise Specified	Vaginal Squamous Cell Carcinoma, NOS	Vaginal squamous cell carcinoma in which information on the p16 immunohistochemistry or HPV testing status is not available.
C165258	Cellosaurus Disease Terminology	C188993	Van Maldergem Syndrome 1	Van Maldergem Syndrome 1		An autosomal recessive condition caused by mutation(s) in the DCHS1 gene, encoding protocadherin-16. It is characterized by intellectual disability, typical craniofacial features, auditory malformations resulting in hearing loss, skeletal and limb malformations, and may include renal hypoplasia. Periventricular nodular heterotopia is often noted on MRI.
C165258	Cellosaurus Disease Terminology	C188994	Van Maldergem Syndrome 2	Van Maldergem Syndrome 2		An autosomal recessive condition caused by mutation(s) in the FAT4 gene, encoding protocadherin Fat 4. It is characterized by periventricular nodular heterotopia, renal hypoplasia, hand anomalies, and skeletal dysplasia.
C165258	Cellosaurus Disease Terminology	C85219	Variegate Porphyria	Variegate Porphyria		An autosomal dominant disorder of porphyria-heme metabolism. It is manifested with acute attacks including abdominal pain, vomiting, diarrhea, constipation, seizures, anxiety, and confusion. Patients may experience skin sensitivity to sunlight.
C165258	Cellosaurus Disease Terminology	C50802	Ventricular Tachycardia	Ventricular Tachycardia		A disorder characterized by an electrocardiographic finding of three or more consecutive complexes of ventricular origin with a rate greater than a certain threshold (100 or 120 beats per minute are commonly used). The QRS complexes are wide and have an abnormal morphology. (CDISC)
C165258	Cellosaurus Disease Terminology	C98647	Very Long-Chain Acyl-CoA Dehydrogenase Deficiency	Very Long-Chain Acyl-CoA Dehydrogenase Deficiency	Acyl-CoA Dehydrogenase, Very Long-Chain Deficiency \|\| Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency	An autosomal recessive inherited disorder characterized by a deficiency of the enzyme very long-chain acyl-coenzyme A dehydrogenase that metabolizes long-chain fatty acids. Signs and symptoms may appear in infancy, early childhood, or later in life. Clinical manifestations in infancy include cardiomyopathy, arrhythmias, hypotonia, and hepatomegaly. Early childhood manifestations include hypoglycemia and hepatomegaly. Later-onset manifestations include muscle pain, cramps, and rhabdomyolysis.
C165258	Cellosaurus Disease Terminology	C3276	Vestibular Schwannoma	Vestibular Schwannoma	Acoustic Neurilemmoma \|\| Acoustic Neuroma \|\| Acoustic Schwannoma \|\| Neurilemoma, Acoustic \|\| Neuroma, Acoustic \|\| Vestibular Neurilemmoma	A benign peripheral nerve sheath neoplasm that arises from the vestibular division of the vestibulocochlear nerve (eight cranial nerve) in the auditory canal or within the labyrinth. It is composed almost entirely of differentiated neoplastic Schwann cells.
C165258	Cellosaurus Disease Terminology	C138174	Vici Syndrome	Vici Syndrome		An autosomal recessive condition caused by mutation(s) in the EPG5 gene, encoding ectopic P granules protein 5 homolog. It is characterized by variable immunodeficiency, cleft lip/palate, cataracts, hypopigmentation, and absent corpus callosum.
C165258	Cellosaurus Disease Terminology	C26749	VIP-Producing Neuroendocrine Tumor	VIP-Producing Neuroendocrine Tumor	VIP Producing Neoplasm \|\| VIP- Secreting Neoplasm \|\| VIP- Secreting Tumor \|\| VIP-Producing NET \|\| VIPoma \|\| Vasoactive Intestinal Peptide Producing Neoplasm \|\| Vasoactive Intestinal Peptide Producing Tumor \|\| Vasoactive Intestinal Peptide Secreting Neoplasm	An often clinically aggressive neuroendocrine tumor located in the pancreas or small intestine. It is composed of cells containing vasoactive intestinal peptide. It may cause intractable diarrhea and metabolic disturbances.
C165258	Cellosaurus Disease Terminology	C201588	Visceral Myopathy 1	Visceral Myopathy 1		An autosomal dominant type of functional intestinal obstruction caused by mutation(s) in the ACTG2 gene, encoding actin, gamma-enteric smooth muscle.
C165258	Cellosaurus Disease Terminology	C198610	VISS Syndrome	VISS Syndrome	Vascular Aneurysm, Immune Dysregulation, Skeletal Anomalies, and Skin and Joint Laxity Syndrome	An autosomal recessive condition caused by mutation(s) in the IPO8 gene, encoding importin-8. It is a generalized connective tissue disorder resulting in skin laxity, vascular aneurysms, immune dysregulation, and skeletal anomalies.
C165258	Cellosaurus Disease Terminology	C118788	Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy		A rare genetic disorder characterized by macular degeneration in the retina resulting in progressive loss of central vision with retention of the peripheral vision. It may be of early onset, autosomal dominant inherited and caused by mutations in the BEST1 gene (BEST disease) or late onset, caused by mutations in the PRPH2 gene.
C165258	Cellosaurus Disease Terminology	C26915	Vitiligo	Vitiligo		Generalized well circumscribed patches of leukoderma that are generally distributed over symmetric body locations and is due to autoimmune destruction of melanocytes.
C165258	Cellosaurus Disease Terminology	C3105	Von Hippel-Lindau Syndrome	Von Hippel Lindau Syndrome	Cerebroretinal Angiomatosis \|\| Von Hippel-Lindau Disease \|\| Von Hippel-Lindau Syndrome \|\| Von Hippel-Lindau Syndrome (VHL)	An inherited familial cancer syndrome which is characterized by development of capillary hemangioblastomas of the central nervous system and retina; clear cell renal carcinoma; pheochromocytoma; pancreatic tumors; and inner ear tumors. The syndrome is associated with germline mutations of the VHL tumor suppressor gene, located on chromosome 3p25-26. Symptoms of VHL syndrome may not be apparent until the third decade of life. CNS hemangioblastoma is the most common cause of death, followed by clear cell renal cell carcinoma. --2004
C165258	Cellosaurus Disease Terminology	C68677	von Willebrand Disease	von Willebrand Disease	von Willebrand's Disease	Hereditary or acquired coagulation disorder characterized by a qualitative or quantitative deficiency of the von Willebrand factor. The latter plays an important role in platelet adhesion. Signs and symptoms include bruises, nose bleeding, gum bleeding following a dental procedure, heavy menstrual bleeding, and gastrointestinal bleeding.
C165258	Cellosaurus Disease Terminology	C4866	Vulvar Carcinoma	Vulvar Carcinoma	Cancer of Vulva \|\| Cancer of the Vulva \|\| Carcinoma of Vulva \|\| Carcinoma of the Vulva \|\| Vulva Cancer \|\| Vulva Carcinoma \|\| Vulvar Cancer	A carcinoma arising from the vulva. It usually affects elderly women but has been observed in premenopausal women as well. The most frequently seen histologic type is squamous cell carcinoma. The most common site of involvement is the labia majora. In many cases, the development of vulvar cancer is preceded by condyloma or squamous dysplasia.
C165258	Cellosaurus Disease Terminology	C4756	Vulvar Intraepithelial Neoplasia	Vulvar Intraepithelial Neoplasia	Intraepithelial Neoplasia of Vulva \|\| Intraepithelial Neoplasia of the Vulva \|\| Squamous Vulvar Intraepithelial Neoplasia \|\| Vulva Intraepithelial Neoplasia \|\| Vulval Intraepithelial Neoplasia	Intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. It includes vulvar squamous intraepithelial lesion, HPV-associated and vulvar intraepithelial neoplasia, HPV-independent.
C165258	Cellosaurus Disease Terminology	C40318	Vulvar Leiomyosarcoma	Vulvar Leiomyosarcoma		An aggressive malignant smooth muscle neoplasm, arising from the vulva. It is characterized by a proliferation of neoplastic spindle cells.
C165258	Cellosaurus Disease Terminology	C27723	Vulvar Lichen Sclerosus	Vulvar Lichen Sclerosus		A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia.
C165258	Cellosaurus Disease Terminology	C40329	Vulvar Melanoma	Vulvar Melanoma		A usually pigmented, nodular or polypoid malignant neoplasm that originates from melanocytes and arises from the vulva. It presents with bleeding and dysuria.
C165258	Cellosaurus Disease Terminology	C4052	Vulvar Squamous Cell Carcinoma	Vulvar Squamous Cell Carcinoma	Epidermoid Carcinoma of Vulva \|\| Epidermoid Carcinoma of the Vulva \|\| Epidermoid Cell Carcinoma of Vulva \|\| Epidermoid Cell Carcinoma of the Vulva \|\| Squamous Cell Carcinoma of Vulva \|\| Squamous Cell Carcinoma of the Vulva \|\| Vulva Epidermoid Carcinoma \|\| Vulva Epidermoid Cell Carcinoma \|\| Vulva Squamous Cell Carcinoma \|\| Vulvar Epidermoid Carcinoma \|\| Vulvar Epidermoid Cell Carcinoma	A squamous cell carcinoma that arises from the vulva. It is classified as human papillomavirus-related or human papillomavirus-independent. When p16 immunohistochemistry or HPV testing is not available, the morphological diagnosis of squamous cell carcinoma, not otherwise specified is acceptable.
C165258	Cellosaurus Disease Terminology	C85222	Waardenburg Syndrome	Waardenburg Syndrome		A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
C165258	Cellosaurus Disease Terminology	C75008	Waardenburg Syndrome Type 1	Waardenburg Syndrome Type 1	Waardenburg Syndrome Type I	A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.
C165258	Cellosaurus Disease Terminology	C75009	Waardenburg Syndrome Type 2	Waardenburg Syndrome Type 2	Waardenburg Syndrome Type II	A rare autosomal dominant syndrome caused by mutations in the MITF and SNAI2 genes. It has all of the features of Waardenburg syndrome Type 1 except dystopia canthorum.
C165258	Cellosaurus Disease Terminology	C124842	Waardenburg Syndrome Type 4	Waardenburg Syndrome Type 4	Waardenburg Syndrome Type IV \|\| Waardenburg-Shah Syndrome	A rare, autosomal dominant or autosomal recessive syndrome caused by mutations in the SOX10, EDN3, or EDNRB genes. It is characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease.
C165258	Cellosaurus Disease Terminology	C184991	Waisman Syndrome	Waisman Syndrome		An X-linked recessive condition caused by mutation(s) in the RAB39B gene, encoding Ras-related protein Rab-39B. It is characterized by clinical features of early-onset parkinsonism and intellectual disability.
C165258	Cellosaurus Disease Terminology	C80307	Waldenstrom Macroglobulinemia	Waldenstrom Macroglobulinemia	Waldenstrom's Macroglobulinemia \|\| Waldenstr�m Macroglobulinemia	Lymphoplasmacytic lymphoma associated with bone marrow involvement and IgM monoclonal gammopathy.
C165258	Cellosaurus Disease Terminology	C135002	Walleye Dermal Sarcoma	Walleye Dermal Sarcoma		Sarcoma arising from the connective tissue of the dermis and occurring in a walleye.
C165258	Cellosaurus Disease Terminology	C164675	Warsaw Breakage Syndrome	Warsaw Breakage Syndrome		An autosomal recessive condition caused by mutation(s) in the DDX11 gene, encoding ATP-dependent DNA helicase DDX11. It is characterized by severe intellectual disability and variable dysmorphic features.
C165258	Cellosaurus Disease Terminology	C125599	Weaver Syndrome	Weaver Syndrome	WVS	A rare syndrome caused by mutations in the EZH2 gene, and rarely mutations in the NSD1 gene. It is characterized by advanced bone age, foot deformities, permanently bent joints, macrocephaly, flattened back of the head, a broad forehead, hypertelorism, large, low-set ears, micrognathia, delayed development of motor skills, and mild intellectual disability.
C165258	Cellosaurus Disease Terminology	C6505	Well Differentiated Liposarcoma	Atypical Lipomatous Tumor/Well Differentiated Liposarcoma	Atypical Lipomatous Tumor \|\| Atypical Lipomatous Tumor/Well-Differentiated Liposarcoma \|\| Well Differentiated Liposarcoma \|\| Well-Differentiated Liposarcoma	A locally aggressive mesenchymal neoplasm composed either entirely or partly of an adipocytic proliferation showing at least focal nuclear atypia in both adipocytes and stromal cells. "Atypical lipomatous tumor" and "well-differentiated liposarcoma" are synonyms describing lesions that are morphologically and genetically identical. Amplification of MDM2 and/or CDK4 is almost always present. (WHO 2020)
C165258	Cellosaurus Disease Terminology	C98670	Werdnig-Hoffmann Disease	Werdnig-Hoffmann Disease	Severe Infantile Spinal Muscular Atrophy \|\| Spinal Muscular Atrophy Type 1 \|\| Spinal Muscular Atrophy, Type I	The most severe form of spinal muscular atrophy. It is manifested in the first year of life with muscle weakness, poor muscle tone, and lack of motor development. The motor neuron death affects the major organ systems, particularly the respiratory system. Most patients die before the age of two secondary to pneumonia.
C165258	Cellosaurus Disease Terminology	C3447	Werner Syndrome	Werner Syndrome	Adult Progeria \|\| Werner's Syndrome	A rare, autosomal recessive syndrome caused by mutations in the WRN gene. It is characterized by the appearance of accelerated aging following puberty. It is associated with the development of diabetes mellitus, atherosclerosis, cataracts, and cancer.
C165258	Cellosaurus Disease Terminology	C35764	Wernicke-Korsakoff Syndrome	Wernicke-Korsakoff Syndrome	Wernicke Encephalopathy	A syndrome caused by thiamine deficiency. It usually occurs in alcoholics and is characterized by confusion, ataxia, and ophthalmoplegia.
C165258	Cellosaurus Disease Terminology	C84788	West Syndrome	West Syndrome		A rare autosomal recessive inherited neurodegenerative disorder caused by mutations in the PLA2G6 gene. It is characterized by the development of swellings called spheroids along the axons of the central nervous system. Signs and symptoms appear early in life and include movement difficulties, muscle hypotonia and spasticity, and cognitive dysfunction.
C165258	Cellosaurus Disease Terminology	C85232	Williams Syndrome	Williams Syndrome	Williams-Beuren Syndrome \|\| Williams-Beuren Syndrome (WBS)	A rare syndrome caused by multiple gene deletions from a region of chromosome 7, including the deletion of CLIP2, ELN, GTF2I, GTF2IRD1 and LIMK1 genes. It is characterized by distinctive facial appearance (elfin facies), mild-to-moderate mental retardation, cheerfulness, cardiovascular abnormalities and infantile hypercalcemia.
C165258	Cellosaurus Disease Terminology	C165597	Williams-Beuren Region Duplication Syndrome	Williams-Beuren Region Duplication Syndrome	Chromosome 7q11.23 Duplication Syndrome \|\| Somerville-Van Der AA Syndrome \|\| WBS Duplication Syndrome	A rare chromosomal anomaly cause by partial duplication of small segment of chromosome 7 (7q11.23). It is characterized by a highly variable phenotype, typically including mild-moderate intellectual developmental delay, and delayed development of speech and motor skills.
C165258	Cellosaurus Disease Terminology	C3267	Wilms Tumor	Wilms Tumor	Nephroblastoma \|\| Wilms' Tumor	An embryonal neoplasm characterized by the presence of epithelial, mesenchymal, and blastema components. The vast majority of cases arise from the kidney. A small number of cases with morphologic features resembling Wilms tumor of the kidney have been reported arising from the ovary and the cervix.
C165258	Cellosaurus Disease Terminology	C3718	Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	WAGR Syndrome	Wilms Tumor-Aniridia-Genitourinary Anomalies-Mental Retardation Syndrome	A syndrome characterized by a predisposition for Wilms tumor, aniridia, genitourinary anomalies, and developmental delay. This is a contiguous gene syndrome due to deletion in the vicinity of chromosome 11p13 in a region containing the WT1 and PAX6 genes.
C165258	Cellosaurus Disease Terminology	C170731	Winchester Syndrome	Winchester Syndrome	Torg-Winchester Syndrome	An autosomal recessive inherited disorder, caused by mutation(s) in the MMP14 gene, encoding matrix metalloproteinase-14. It is characterized by short stature, coarse facial features, flat nose, joint contractures, severe osteolysis in the hands and feet, and generalized osteoporosis.
C165258	Cellosaurus Disease Terminology	C3448	Wiskott-Aldrich Syndrome	Wiskott-Aldrich Syndrome	Wiskott Aldrich Syndrome	A rare, X-linked immunodeficiency syndrome characterized by eczema, thrombocytopenia, and recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IgM levels are low and IgA and IgE levels are elevated. Lymphoreticular malignancies are common.
C165258	Cellosaurus Disease Terminology	C35132	Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome		A cardiac conduction disorder characterized by an electrocardiographic finding of ventricular pre-excitation, which is a short PR interval and a long QRS interval with a delta wave. Most individuals are asymptomatic; however they can experience periods of palpitations, shortness of breath or syncope during tachycardic episodes.
C165258	Cellosaurus Disease Terminology	C35528	Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	4p Deletion Syndrome	A genetic syndrome resulting from a partial deletion on the short arm of chromosome 4 (4p deletion syndrome). It is characterized by mental retardation, microcephaly, seizures, muscle hypotonia, a distinctive facial appearance with prominent forehead and wide set eyes, growth failure with malformations of the spine, hands, and feet, congenital heart defects, and genitourinary malformations.
C165258	Cellosaurus Disease Terminology	C35133	Wolfram Syndrome	Wolfram Syndrome		A rare inherited syndrome caused by mutations in the WFS1 and CISD2 genes. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
C165258	Cellosaurus Disease Terminology	C61271	Wolman Disease	Wolman Disease		A very rare, autosomal recessive inherited lysosomal storage disease caused by mutations in the LIPA gene. Signs and symptoms appear in infancy and include developmental delay, vomiting, abdominal distention, hepatosplenomegaly, jaundice, anemia, steatorrhea, and calcification of the adrenal glands.
C165258	Cellosaurus Disease Terminology	C124251	Woodchuck Hepatocellular Carcinoma	Woodchuck Hepatocellular Carcinoma		Hepatocellular carcinoma (HCC) occurring in a woodchuck, usually as a result of chronic infection by the woodchuck hepatitis virus. The woodchuck model of viral-induced HCC provides an animal model that resembles the complex human liver environment of HCC in the context of chronic hepatitis B viral infection.
C165258	Cellosaurus Disease Terminology	C134574	Xenopus Neoplasm	Xenopus Neoplasm		A neoplasm that occurs in Xenopus.
C165258	Cellosaurus Disease Terminology	C3452	Xeroderma Pigmentosum	Xeroderma Pigmentosum		An inherited skin disorder characterized by photosensitivity with severe sunburn in infancy, the development of numerous pigmented spots resembling freckles, larger atrophic lesions associated with telangiectasis, and multiple solar keratoses. Transmitted in an autosomal recessive manner, xeroderma pigmentosa involves a defect in nucleotide excision repair (NER), leading to deficient repair of DNA damaged by UV radiation and chromosome breakage. Individuals with this disease develop multiple malignant cutaneous neoplasms at an early age and may suffer from severe ophthalmic and neurologic abnormalities.
C165258	Cellosaurus Disease Terminology	C141367	Xeroderma Pigmentosum Variant Type	Xeroderma Pigmentosum Variant Type		A type of xeroderma pigmentosum resulting from mutation(s) in the POLH gene, encoding DNA polymerase eta. This form of the disease is characterized by normal DNA excision repair, but defective post-replication repair of DNA at UV-damaged sites.
C165258	Cellosaurus Disease Terminology	C3965	Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum, Complementation Group A	Xeroderma Pigmentosum Group A	Xeroderma pigmentosum caused by bi-allelic mutations in XPA gene.
C165258	Cellosaurus Disease Terminology	C3966	Xeroderma Pigmentosum, Complementation Group B	Xeroderma Pigmentosum, Complementation Group B	Xeroderma Pigmentosum Group B	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC3 gene.
C165258	Cellosaurus Disease Terminology	C114770	Xeroderma Pigmentosum, Complementation Group C	Xeroderma Pigmentosum, Complementation Group C	XP-C \|\| Xeroderma Pigmentosum Group C	Xeroderma pigmentosum caused by bi-allelic mutations in XPC gene.
C165258	Cellosaurus Disease Terminology	C3967	Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum, Complementation Group D	Xeroderma Pigmentosum Group D	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC2 gene.
C165258	Cellosaurus Disease Terminology	C114771	Xeroderma Pigmentosum, Complementation Group E	Xeroderma Pigmentosum, Complementation Group E	XP-E \|\| Xeroderma Pigmentosum Group E	Xeroderma pigmentosum caused by bi-allelic mutations in DDB2 gene.
C165258	Cellosaurus Disease Terminology	C3968	Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum, Complementation Group F	Xeroderma Pigmentosum Group F	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC4 gene.
C165258	Cellosaurus Disease Terminology	C3969	Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum, Complementation Group G	Xeroderma Pigmentosum Group G	Xeroderma pigmentosum caused by bi-allelic mutations in ERCC5 gene.
C165258	Cellosaurus Disease Terminology	C156031	Xeroderma Pigmentosum-Cockayne Syndrome Complex	Xeroderma Pigmentosum-Cockayne Syndrome Complex	Xeroderma Pigmentosum/Cockayne Syndrome	A condition characterized by the cutaneous features of xeroderma pigmentosum and the systemic and neurological features of Cockayne syndrome.
C165258	Cellosaurus Disease Terminology	C173111	XFE Progeroid Syndrome	XFE Progeroid Syndrome		An autosomal recessive condition caused by mutation(s) in the ERCC4 gene, encoding DNA repair endonuclease XPF. it is characterized by characterized by cutaneous photosensitivity and progeroid features in multiple organ systems.
C165258	Cellosaurus Disease Terminology	C192092	Xia-Gibbs Syndrome	Xia-Gibbs Syndrome		An autosomal dominant condition caused by mutations(s) in the AHDC1 gene, encoding transcription factor Gibbin. It has a broad clinical spectrum, which includes impaired intellectual development, obstructive sleep apnea and mild facial dysmorphia.
C165258	Cellosaurus Disease Terminology	C134575	Xiphophorus Melanoma	Xiphophorus Melanoma		Melanoma that occurs in Xiphophorus.
C165258	Cellosaurus Disease Terminology	C3822	X-Linked Agammaglobulinemia	X-Linked Agammaglobulinemia	Bruton's Sex-Linked Agammaglobulinemia \|\| Bruton's X-Linked Agammaglobulinemia	An X-linked recessive inherited immunodeficiency disorder caused by mutation of the BTK gene, which is located on the X chromosome. It almost always affects males. Individuals with this disorder have low numbers of B-cells and extremely low levels of all types of immunoglobulins. This results in susceptibility to recurrent infections, leading to organ damage.
C165258	Cellosaurus Disease Terminology	C173469	X-Linked Cardiac Valvular Dysplasia	X-Linked Cardiac Valvular Dysplasia	Filamin A-Related X-Linked Myxomatous Valvular Dysplasia \|\| X-Linked Myxomatous Valvular Dysplasia	An X-linked condition caused by mutations(s) in the FLNA gene on chromosome Xq28, encoding filamin A. It is characterized by multivalvular dysplasia and regurgitation, which can lead to lethal heart failure in some patients.
C165258	Cellosaurus Disease Terminology	C118781	X-Linked Centronuclear Myopathy	X-Linked Centronuclear Myopathy	MTM \|\| Myotubular Myopathy 1 \|\| X-Linked Myotubular Myopathy \|\| XLCNM	An X-linked recessive inherited disorder caused by mutations in the MTM1 gene. Primarily it affects males. Female carriers are usually asymptomatic. It is characterized by skeletal muscle weakness and hypotonia. The muscle weakness ranges from mild to severe. Newborns with severe X-linked centronuclear myopathy develop respiratory distress which may lead to respiratory failure requiring constant ventilator assistance. Patients with mild X-linked centronuclear myopathy usually require ventilator support during the newborn period only.
C165258	Cellosaurus Disease Terminology	C154315	X-linked Chronic Granulomatous Disease	X-linked Chronic Granulomatous Disease		An X-linked recessive form of chronic granulomatous disease caused by mutation(s) in the CYBB gene, encoding cytochrome b-245 beta chain.
C165258	Cellosaurus Disease Terminology	C180844	X-Linked Deafness-4	X-Linked Deafness-4		An X-linked dominant condition caused by mutation (s) in the SMPX gene, encoding small muscular protein. It is characterized by progressive sensorineural hearing loss.
C165258	Cellosaurus Disease Terminology	C180843	X-Linked Deafness-5, with Peripheral Neuropathy	X-Linked Deafness-5, with Peripheral Neuropathy		An X-linked recessive condition caused by mutation (s) in the AIFM1 gene, encoding apoptosis-inducing factor 1, mitochondrial . It is characterized by auditory neuropathy, followed by peripheral neuropathy.
C165258	Cellosaurus Disease Terminology	C85234	X-Linked Dominant Hypophosphatemic Rickets	X-Linked Dominant Hypophosphatemic Rickets	X-Linked Hypophosphatemia	An X-linked dominant disorder caused by mutations in the PHEX gene. It is characterized by growth retardation, osteomalacia, hypophosphatemia, and defects in the renal reabsorption of phosphorus.
C165258	Cellosaurus Disease Terminology	C206103	X-Linked Dominant Scapuloperoneal Myopathy	X-Linked Dominant Scapuloperoneal Myopathy		An X-linked dominant condition caused by mutation(s) in the FHL1 gene, encoding four and a half LIM domains protein 1. It is characterized by weakness in the shoulder-girdle and peroneal muscles.
C165258	Cellosaurus Disease Terminology	C126330	X-Linked Dystonia Parkinsonism	X-Linked Dystonia Parkinsonism	Dystonia 3 \|\| X-Linked Dystonia-Parkinsonism	An X-linked recessive inherited movement disorder caused by mutations in and near the TAF1 gene. It is found only in people of Filipino descent. It is characterized by parkinsonism and later in life the development of involuntary, sustained muscle contractions.
C165258	Cellosaurus Disease Terminology	C84779	X-Linked Ichthyosis	X-Linked Ichthyosis	Ichthyosis, X-linked	The second most common form of ichthyosis. It is an X-linked inherited disorder with mild skin manifestations. The skin changes appear at birth and include keratinization and scaling.
C165258	Cellosaurus Disease Terminology	C205645	X-Linked Lissencephaly-1	X-Linked Lissencephaly-1	X-linked Subcortical Band Heterotopia	An X-linked subtype of lissencephaly caused by mutation(s) in the DCX gene, encoding neuronal migration protein doublecortin.
C165258	Cellosaurus Disease Terminology	C170434	X-linked Lymphoproliferative Syndrome 1	X-linked Lymphoproliferative Syndrome 1	Immunodeficiency 5 \|\| X-linked Lymphoproliferative Syndrome 1	An X-linked recessive condition caused by mutation(s) in the SH2D1A gene, encoding SH2 domain-containing protein 1A. It is characterized by a susceptibility to severe EBV infection, acquired hypogammaglobulinemia, hemophagocytic lymphohistiocytosis, and/or lymphoma.
C165258	Cellosaurus Disease Terminology	C206528	X-Linked Ohdo Syndrome	X-Linked Ohdo Syndrome	Blepharophimosis-Intellectual Disability Syndrome, MKB Type	An X-linked recessive condition caused by a mutation in the MED12 gene, encoding mediator of RNA polymerase II transcription subunit 12. It is characterized by intellectual disability, developmental delay, blepharophimosis, wide nasal bridge, and other associated facial features.
C165258	Cellosaurus Disease Terminology	C4682	X-Linked Severe Combined Immunodeficiency	X-Linked Severe Combined Immunodeficiency	X-linked SCID	An X-linked form of severe combined immunodeficiency characterized as T-cell negative, B-cell positive, NK cell negative, and with mutations in the IL2RG gene, resulting in an impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.
C165258	Cellosaurus Disease Terminology	C188996	X-Linked Spondyloepimetaphyseal Dysplasia	X-Linked Spondyloepimetaphyseal Dysplasia		An X-linked condition caused by mutations(s) in the BGN gene on chromosome Xq28, encoding biglycan. It is characterized by severe short-trunk dwarfism and brachydactyly, but with normal facies and normal intelligence.
C165258	Cellosaurus Disease Terminology	C206529	X-Linked Syndromic Intellectual Developmental Disorder with Pigmentary Mosaicism and Coarse Facies	X-Linked Syndromic Intellectual Developmental Disorder with Pigmentary Mosaicism and Coarse Facies		An X-linked condition caused by mutation(s) in the TFE3 gene, encoding transcription factor E3. It is characterized by a triad of developmental delay, Blaschkoid pigmentary mosaicism, and characteristic coarse facial features.
C165258	Cellosaurus Disease Terminology	C177544	Xq25 Microduplication Syndrome	Xq25 Microduplication Syndrome		An X-linked genetic condition caused by duplication of a small segment of Xq25, which may encompass the GRIA3 and STAG2 genes, encoding glutamate receptor 3 and cohesin subunit SA-2. It is characterized by intellectual disability and distinctive facial dysmorphisms.
C165258	Cellosaurus Disease Terminology	C86032	XX Male	XX Male		A person who has a chromosome composition of 46 XX and who is phenotypically male.
C165258	Cellosaurus Disease Terminology	C176704	YARSopathy	YARSopathy		An autosomal recessive condition caused by mutation(s) in the YARS gene encoding tyrosine-tRNA ligase. It is characterized by a variable phenotype which may include poor growth, developmental delay, abnormal brain white matter, hearing loss, involuntary eye movements, progressive cholestatic liver disease, pancreatic insufficiency, hypoglycemia, anemia, intermittent excess of protein in urine, recurrent bloodstream infections, and chronic pulmonary disease.
C165258	Cellosaurus Disease Terminology	C185244	Y-Linked Spermatogenic Failure-2	Y-Linked Spermatogenic Failure-2		A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y. It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.
C165258	Cellosaurus Disease Terminology	C134785	Zebra Finch Neoplasm	Zebra Finch Neoplasm		A neoplasm that occurs in a zebra finch.
C165258	Cellosaurus Disease Terminology	C85239	Zellweger Syndrome	Zellweger Syndrome		A rare group of autosomal recessive inherited disorders characterized by the reduction or absence of peroxisomes in the tissues. Signs and symptoms include increased levels of iron and copper in the blood and tissues, hepatomegaly, facial abnormalities, mental retardation, seizures, and hypotonia.
C165258	Cellosaurus Disease Terminology	C205647	Zimmermann-Laband Syndrome 1	Zimmermann-Laband Syndrome 1		An autosomal dominant condition caused by mutation(s) in the KCNH1 gene, encoding potassium voltage-gated channel subfamily H member 1. It is characterized by gingival fibromatosis, abnormal fingernails, and characteristic facies.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C129638	Astatine-211 Alpha Radiation	Astatine-211 Alpha Radiation		Alpha rays produced by the decay of astatine-211.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C129639	Cerium-144 Beta Radiation	Cerium-144 Beta Radiation		Beta radiation produced by the decay of cerium-144.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C129643	Cesium-137 Gamma Radiation	Cesium-137 Gamma Radiation		Gamma rays produced by the decay of cesium-137.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C129640	Cobalt-60 Gamma Radiation	Cobalt-60 Gamma Radiation		Gamma rays produced by the decay of cobalt-60.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C44386	Gamma Radiation	Gamma Radiation	Gamma \|\| Gamma Ray	High-energy, short wavelength, ionizing electromagnetic radiation emitted from the nucleus. Gamma radiation frequently accompanies alpha and beta emissions and always accompanies fission. Gamma rays are very penetrating and are best stopped or shielded by dense materials, such as lead or depleted uranium. Gamma rays are identical to x-rays and are only differentiated by their origin. (from NRC Glossary)
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C16098	Helium-Ion Radiation	Helium-Ion Radiation
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C129641	Iron-56 Ion Irradiation	Iron-56 Ion Irradiation		Irradiation with heavy, charged nuclei of iron-56.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C192869	Non-Thermal Plasma	Non-Thermal Plasma		An electrically conductive state of matter in which the electrons are thermalized, and the plasma is not in thermodynamic equilibrium.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C176700	Phosphorus-32 Beta Radiation	Phosphorus-32 Beta Radiation		Beta radiation produced by the decay of phosphorous-32.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C129642	Plutonium-238 Alpha Particle Radiation	Plutonium-238 Alpha Particle Radiation		Alpha rays produced by the decay of plutonium-238.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C160658	Plutonium-239 Alpha Particle Radiation	Plutonium-239 Alpha Particle Radiation		Alpha rays produced by the decay of plutonium-239.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C141343	Strontium-90 Beta Radiation	Strontium-90 Beta Radiation		Beta radiation produced by the decay of strontium-90.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C165595	Tritium Beta Radiation	Tritium Beta Radiation	Hydrogen-3 Beta Radiation	Beta radiation produced from the decay of tritium. The energy of the beta particle emitted as tritium decays to helium averages 5.7 keV.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C17231	Ultraviolet Radiation	Ultraviolet Radiation	Radiation, UV \|\| Sun/Ultra-Violet Rays \|\| UV \|\| UV Radiation	The invisible ultraviolet spectrum makes up one specific portion of sunlight. This unique portion accounts for three percent of all solar radiation reaching the earth. UV radiation causes many health problems.
C192843	Cellosaurus Resistance and Transformant Physical Factor Terminology	C17262	X-Ray	X-Ray	Radiation, X-Rays \|\| X-radiation	Ionizing electromagnetic radiation having a wavelength that is shorter than ultraviolet radiation and longer than gamma radiation.