Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
Silverman-Handmaker type dyssegmental dysplasia	DOID_0090032	[An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36.]
corticosteroid-binding globulin deficiency	DOID_0090030	[An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32.]
non-invasive bladder urothelial carcinoma	DOID_6571
myoclonic dystonia 15	DOID_0090035	[A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11.]
myoclonic dystonia	DOID_0090033	[A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life.]
myoclonic dystonia 26	DOID_0090036	[A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12.]
hemangioblastoma	DOID_5241
retinal hemangioblastoma	DOID_5240
myoclonic dystonia 11	DOID_0090034	[A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21.]
childhood optic tract astrocytoma	DOID_6575
torsion dystonia 6	DOID_0090039	[A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11.]
obsolete resectable cholangiocellular carcinoma	DOID_5242
childhood optic nerve glioma	DOID_6576
obsolete recurrent adult brain tumor	DOID_6573
obsolete recurrent cholangiocellular carcinoma	DOID_5245
torsion dystonia 13	DOID_0090037	[A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13.]
obsolete Borderline malignancy papillary mucinous cystadenoma	DOID_6574
obsolete visual alteration	DOID_5244
torsion dystonia 2	DOID_0090038	[A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35.]
chest wall bone cancer	DOID_6579	[A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall.]