Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
neuromuscular disease	DOID_440	[A neuropathy that affect the nerves that control the voluntary muscles.]
cortical deafness	DOID_0060140	[An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact.]
autoimmune disease of the nervous system	DOID_438
eczema herpeticum	DOID_9123	[A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes.]
myofascial pain syndrome	DOID_431
microphthalmia	DOID_10629	[An eye disease where one or both eyeballs are abnormally small.]
myasthenia gravis	DOID_437
progesterone receptor modulator	CHEBI_71027
fibrin modulating drug	CHEBI_48676
antifibrinolytic drug	CHEBI_48675
homocarnosinosis	DOID_0060177	[A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine.]
gamma-amino butyric acid metabolism disorder	DOID_0060176	[An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway.]
succinic semialdehyde dehydrogenase deficiency	DOID_0060175	[A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid.]
Timothy syndrome	DOID_0060173	[An autosomal dominant disease that is characterized by cardiac, hand/foot, facial, and neurodevelopmental features. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of CACNA1C on chromosome 12p13.33.]
juvenile absence epilepsy	DOID_0060172	[An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures.]
Dravet syndrome	DOID_0060171	[An epilepsy that is characterized by frequent febrile seizures with onset before 1 year.]
infancy electroclinical syndrome	DOID_0050703	[An electroclinical syndrome with onset in infancy occurring between birth and one year of age.]
benign familial infantile epilepsy	DOID_0060169	[An infancy electroclinical syndrome that is characterized by convulsions, with onset at age 3 to 12 months.]
histidinemia	DOID_0060168	[A histidine metabolism disease that involves a deficiency of the enzyme histidase.]
HUV-EC-C cell	CLO_0004307