Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| oleate | CHEBI_30823 | [A C18, long straight-chain monounsaturated fatty acid anion; and the conjugate base of oleic acid, arising from deprotonation of the carboxylic acid group.] |
| obsolete_inguinal region | EFO_0001397 | |
| obsolete_PENS syndrome | Orphanet_313936 | [PENS syndrome is a rare, genetic, neurocutaneous syndrome characterized by the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular polycyclically-shaped, epidermal keratotic papules and plaques of ''gem-like'' appearance with a rough surface, typically located on the trunk and proximal limbs, associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and oftalmological abnormalities have also been reported.] |
| obsolete_pulmonary artery | EFO_0001399 | [An artery arising from the right ventricle of the heart that carries deoxygenated blood to the lungs., An artery that conveys venous blood from the heart to the lungs.] |
| obsolete_mitochondrial DNA depletion syndrome, hepatocerebral form | Orphanet_254871 | |
| calcitriol | CHEBI_17823 | [A hydroxycalciol that has formula C27H44O3., Encoded by human CYP8B1 Gene (Cytochrome P450 Family), 501-aa 58-kDa Cytochrome P450 8B1 is a liver endoplasmic reticulum membrane P450 heme-thiolate monooxygenase involved in bile acid synthesis that catalyzes conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7-alpha,12-alpha-dihydroxy-4-cholesten-3-one. The balance between these steroids determines the relative amount of cholic and chenodeoxycholic acids secreted in the bile that affect cholesterol solubility. CYP8B1 has broad substrate specificity including 7-alpha-hydroxylated C27 steroids. P450 enzymes catalyze reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. (NCI)] |
| dantrolene | CHEBI_4317 | |
| danazol | CHEBI_4315 | |
| fumarate(2-) | CHEBI_29806 | [A C4-dicarboxylate that is the E-isomer of but-2-enedioate(2-)] |
| obsolete_isolated oxidative phosphorylation complex disorder | Orphanet_254846 | |
| Exercise intolerance with lactic acidosis | Orphanet_254843 | |
| glutaric acid | CHEBI_17859 | [An alpha,omega-dicarboxylic acid that is a linear five-carbon dicarboxylic acid.] |
| Hypoplastic toenails | HP_0001800 | [Underdevelopment of the toenail.] |
| Aplasia/Hypoplasia of the nails | HP_0008386 | [Aplasia or developmental hypoplasia of the nail.] |
| Rare hyperthyroidism | Orphanet_181399 | |
| obsolete_growth hormone insensitivity syndrome | Orphanet_181393 | |
| Rare female infertility due to a congenital hypogonadotropic hypogonadism | Orphanet_399839 | |
| monocrotaline | CHEBI_6980 | |
| obsolete_maternally-inherited mitochondrial dystonia | Orphanet_254851 | |
| obsolete_lethal infantile mitochondrial myopathy | Orphanet_254857 |