Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
myxoid leiomyosarcoma	DOID_5268	[A leiomyosarcoma that is characterized by abundant myxoid stroma.]
torsion dystonia 17	DOID_0090042	[A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12.]
dystonia 5	DOID_0090043	[A dystonia characterized by childhood-onset dystonia that responds to low doses of levodopa (L-dopa) and may be associated with parkinsonism at an older age and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene enconding GTP cyclohydrolase 1 (GCH1) on chromosome 14q13.]
obsolete malignant mesenchymal neoplasm of the stomach	DOID_5281
Kunjin virus	NCBITaxon_11077
torsion dystonia 7	DOID_0090040	[A focal dystonia that is characterized by predomiantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p.]
gastric leiomyosarcoma	DOID_5280
torsion dystonia 4	DOID_0090041	[A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13.]
dystonia 21	DOID_0090046	[A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3.]
small intestine leiomyosarcoma	DOID_5271	[A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines.]
paroxysmal nonkinesigenic dyskinesia 2	DOID_0090047	[A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31.]
dystonia 9	DOID_0090044	[A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.]
cutaneous leiomyosarcoma	DOID_5273
childhood onset GLUT1 deficiency syndrome 2	DOID_0090045	[A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34.]
esophagus leiomyosarcoma	DOID_5276
gallbladder leiomyosarcoma	DOID_5275	[A gallbladder sarcoma that is located_in the soft tissues of the gallbladder.]
obsolete pediatric leiomyosarcoma	DOID_5278
dystonia 16	DOID_0090048	[A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31.]
paroxysmal nonkinesigenic dyskinesia 1	DOID_0090049	[A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35.]
D-bifunctional protein deficiency	DOID_0090031	[A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.]