Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
familial cold autoinflammatory syndrome 3	DOID_0090064	[A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q.]
familial cold autoinflammatory syndrome 4	DOID_0090065	[A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22.]
familial cold autoinflammatory syndrome 1	DOID_0090062	[A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44.]
familial cold autoinflammatory syndrome 2	DOID_0090063	[A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.]
obsolete vessel leiomyosarcoma	DOID_5294
giant axonal neuropathy 1	DOID_0090068	[An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23.]
axonal neuropathy	DOID_7319
extrahepatic bile duct leiomyosarcoma	DOID_5293	[A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver.]
giant axonal neuropathy 2	DOID_0090069	[An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23.]
liver leiomyosarcoma	DOID_5296	[A leiomyosarcoma and sarcoma of liver that is located_in the liver.]
Fanconi-like syndrome	DOID_0090066	[A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies.]
Fuhrmann syndrome	DOID_0090067	[A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25.]
rectum leiomyosarcoma	DOID_5297	[A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum.]
endometrial clear cell adenocarcinoma	DOID_5299	[An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm.]
dystonia 27	DOID_0090050	[A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37.]
segmental dystonia	DOID_0050838	[A dystonia that affects two or more adjacent parts of the body.]
Tick-borne encephalitis virus	NCBITaxon_11084
Powassan virus	NCBITaxon_11083
episodic kinesigenic dyskinesia 1	DOID_0090053	[A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.]
dystonia	DOID_543