Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
complement component 9 deficiency	DOID_0060303	[A complement deficiency that is characterized by recurrnet bascterial infections, has_material_basis_in mutation in the C9 gene.]
type II complement component 8 deficiency	DOID_0060302	[A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes.]
spinocerebellar ataxia type 35	DOID_0050982	[An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene.]
type I complement component 8 deficiency	DOID_0060301	[A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes.]
spinocerebellar ataxia type 34	DOID_0050981	[An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene.]
complement component 7 deficiency	DOID_0060300	[A complement deficiency that is characterized byrecurrnet bascterial infections, has_material_basis_in mutation in the C7 gene.]
hepatobiliary system	UBERON_0002423
basal ganglion	UBERON_0002420
integumental system	UBERON_0002416
spinocerebellar ataxia type 37	DOID_0050984	[An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene.]
spinocerebellar ataxia type 36	DOID_0050983	[An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.]
spinocerebellar ataxia type 40	DOID_0050986	[An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalutes, dysarthria, tremor and hyporeflexia, has_material_basis_in muation in the CCDC88C gene.]
Menkes disease	DOID_1838
spinocerebellar ataxia type 38	DOID_0050985	[An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene.]
diabetic ketoacidosis	DOID_1837
GRID2-related spinocerebellar ataxia	DOID_0050988	[An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss.]
hypomyelinating leukoencephalopathy	DOID_0050987	[An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.]
mononeuritis multiplex	DOID_1835
episodic ataxia type 1	DOID_0050989	[An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1.]
chronic atrial and intestinal dysrhythmia	DOID_0060339	[A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO).]