Terminology Service < Semantic Lookup Platform

All terms in DOID

Label	Id	Description
autonomic nervous system	UBERON_0002410
cardiac arrest	DOID_0060319	[A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all.]
immune system	UBERON_0002405
episodic ataxia type 7	DOID_0050995	[An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance.]
uvulitis	DOID_0060310	[An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size.]
susceptibility to restless legs syndrome 4	OMIM_610439
episodic ataxia type 6	DOID_0050994	[An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.]
cerebellar ataxia, mental retardation and dysequlibrium syndrome	DOID_0050997	[An autosomal recessive cerebellar ataxia that is characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia.]
episodic ataxia type 8	DOID_0050996	[An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene.]
susceptibility to restless legs syndrome 3	OMIM_610438
autosomal recessive spinocerebellar ataxia 10	DOID_0050999	[An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene.]
Absence seizures	HP_0002121	[Recurrent absence seizures are generalized seizures and are characterized by a loss of consciousness, thus, are a form of dialeptic seizures.]
nonprogressive cerebellar ataxia with mental retardation	DOID_0050998	[A cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene.]
status epilepticus	DOID_1824
obsolete petit mal status	DOID_1823
secondary lacrimal atrophy	DOID_1822
obsolete Mild hyperemesis gravidarum	DOID_1832
megalocornea	DOID_0060305	[A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene.]
dyschromatosis universalis hereditaria	DOID_0060304	[A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution.]
spinocerebellar ataxia type 31	DOID_0050980	[An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene.]