Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autosomal dominant dyskeratosis congenita 3	DOID_0070018	[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TINF2 on chromosome 14q12.]
autosomal recessive dyskeratosis congenita 1	DOID_0070015	[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of NOLA3 on chromosome 15q14.]
autosomal dominant dyskeratosis congenita 2	DOID_0070016	[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERT on chromosome 5p15.33.]
Seckel syndrome 2	DOID_0070013	[A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11.]
autosomal dominant dyskeratosis congenita 1	DOID_0070014	[A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of TERC on chromosome 3q26.2.]
hyperekplexia 1	DOID_0060696	[A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32.]
hyperekplexia	DOID_0060695	[A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia.]
hyperekplexia 2	DOID_0060697	[A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32.]
hyperekplexia 3	DOID_0060698	[A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15.]
familial hypocalciuric hypercalcemia	DOID_0060699	[A hypercalcemia characterized byautosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion.]
hypercalcemia	DOID_12678
autosomal dominant auditory neuropathy 1	DOID_0060690	[An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q.]
autosomal dominant nonsyndromic deafness	DOID_0050564	[A nonsyndromic deafness characterized by an autosomal dominant inheritance mode.]
platelet-type bleeding disorder 16	DOID_0060691	[An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.]
inherited blood coagulation disease	DOID_2214
platelet-type bleeding disorder 8	DOID_0060692	[An inherited blood coagulation disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.]
Brunner Syndrome	DOID_0060693	[An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11.]
Cayman type cerebellar ataxia	DOID_0060694	[A cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3.]
cerebellar ataxia	DOID_0050753	[A hereditary ataxia that is characterized by ataxia originating in the cerebellum.]
nervous system disease	DOID_863	[A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.]