Terminology Service < Semantic Lookup Platform

All terms in BAO

Label	Id	Description
deaminating agent	CHEBI_50907
aceruloplasminemia	DOID_0050711	[An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus.]
3-Methylcrotonyl-CoA carboxylase deficiency	DOID_0050710	[An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.]
AGAT deficiency	DOID_0050712	[An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis.]
electroclinical syndrome	DOID_0050701	[An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep.]
early onset absence epilepsy	DOID_0050708	[A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years.]
Oryza sativa Japonica Group	NCBITaxon_39947
Ohtahara syndrome	DOID_0050709	[A neonatoal period electroclinical syndrome that is characterized by tonic spasms and partial seizures.]
neonatal period electroclinical syndrome	DOID_0050702	[An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age.]
multidrug-resistant tuberculosis	DOID_401	[A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs.]
phenothiazine antipsychotic drug	CHEBI_37930
nodular basal cell carcinoma	DOID_4280
microsporidiosis	DOID_4271	[An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.]
encephalitozoonosis	DOID_4270	[A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem.]
Canis lupus familiaris	NCBITaxon_9615
vitamin B12 deficiency	DOID_0050731	[A vitamin metabolic disorder that results from low blood levels of vitamin B12.]
coenzyme Q10 deficiency disease	DOID_0050730	[A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis.]
P2Y2 receptor agonist	CHEBI_53142
protein kinase A agonist	CHEBI_78547
protein kinase agonist	CHEBI_64106