Terminology Service for NFDI4Health
All terms in BAO
| Label | Id | Description |
|---|---|---|
| EC 4.1.1.28 (aromatic-L-amino-acid decarboxylase) inhibitor | CHEBI_59321 | |
| carbamylphosphate synthetase I activator | CHEBI_71033 | |
| thyroid hormone | CHEBI_60311 | |
| orphan drug | CHEBI_71031 | |
| Wolfram syndrome | DOID_10632 | [An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding wolframin (WFS1).] |
| hypertrichosis | DOID_420 | [A hair disease characterized by hair growth that is abnormal in quantity or location.] |
| stomach carcinoma in situ | DOID_9138 | |
| pulmonary immaturity | DOID_424 | |
| Kleine-Levin syndrome | DOID_0060165 | [A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior.] |
| pain disorder | DOID_0060164 | [A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress.] |
| body dysmorphic disorder | DOID_0060163 | [A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image).] |
| dentatorubral-pallidoluysian atrophy | DOID_0060162 | [An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein.] |
| Kennedy's disease | DOID_0060161 | [A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor.] |
| EC 5.4.99.7 (lanosterol synthase) inhibitor | CHEBI_101086 | |
| EC 5.4.99.* (intramolecular transferase transferring other groups) inhibitor | CHEBI_101090 | |
| compatible osmolytes | CHEBI_23366 | |
| spindle cell hemangioma | DOID_496 | |
| schizotypal personality disorder | DOID_10646 | [A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs.] |
| female reproductive organ benign neoplasm | DOID_0060086 | |
| hemangioma of lung | DOID_490 |