Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
episodic kinesigenic dyskinesia 2	DOID_0090054	[A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1.]
dystonia 23	DOID_0090051	[A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34.]
focal dystonia	DOID_0050836	[A dystonia that is localized to a specific part of the body.]
dystonia 24	DOID_0090052	[A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14.]
heart leiomyosarcoma	DOID_5261
heart sarcoma	DOID_5262	[A sarcoma and malignant neoplasm of heart that is located_in the heart.]
X-linked dystonia-parkinsonism	DOID_0090057	[A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1.]
bladder colonic type adenocarcinoma	DOID_6594
Yellow fever virus	NCBITaxon_11089
torsion dystonia with onset in infancy	DOID_0090058	[A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy.]
ovary leiomyosarcoma	DOID_5263	[An ovary sarcoma that arises from smooth muscle progenitors.]
dystonia 25	DOID_0090055	[A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11.]
multifocal dystonia	DOID_0050837	[A dystonia that involves two or more unrelated body parts.]
dystonia 12	DOID_0090056	[A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13.]
lung leiomyosarcoma	DOID_5265	[A leiomyosarcoma and sarcoma of lung that is located_in the lung.]
epithelioid leiomyosarcoma	DOID_5264	[A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm.]
gastric tubular adenocarcinoma	DOID_6595
anus leiomyosarcoma	DOID_5267	[A leiomyosarcoma and sarcoma of the anus that is located_in the anus.]
enhanced S-cone syndrome	DOID_0090059	[A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23.]
obsolete leiomyosarcoma metastatic	DOID_5266