Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| nasal septum | UBERON_0001706 | [The nasal septum separates the left and right airways in the nose, dividing the two nostrils. It is depressed by the Depressor septi nasi muscle. [WP,unvetted].] |
| obsolete_multiple carboxylase deficiency | Orphanet_148 | |
| geniculate ganglion | UBERON_0001700 | [The group of sensory neuron cell bodies associated with the facial nerve (seventh cranial nerve).] |
| obsolete_Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency | Orphanet_308410 | |
| obsolete_Carbamoyl-phosphate synthase deficiency | Orphanet_147 | [Carbamyl phosphate synthetase deficiency is an urea cycle disorder strictly limited to the liver and intestine that results in congenital hyperammonemia and defective citrulline synthesis.] |
| Hereditary breast and ovarian cancer syndrome | Orphanet_145 | [An autosomal dominant inherited syndrome caused by mutations in the BRCA1 or BRCA2 genes. Patients are at high risk of developing breast cancer, particularly before the age of fifty, high risk of developing a second primary breast cancer, and high risk of developing both breast and ovarian cancer.] |
| Hereditary breast cancer | Orphanet_227535 | [Breast carcinoma that has developed in relatives of patients with history of breast carcinoma.] |
| obsolete_Lynch syndrome | Orphanet_144 | [An autosomal dominant hereditary neoplastic syndrome characterized by the development of colorectal carcinoma and a high risk of developing endometrial carcinoma, gastric carcinoma, ovarian carcinoma, renal pelvis carcinoma, and small intestinal carcinoma. Patients often develop colorectal carcinomas at an early age (mean, 45 years). In the majority of the cases the lesions arise from the proximal colon. At the molecular level, high-frequency microsatellite instability is present.] |
| obsolete_Canavan disease | Orphanet_141 | [Canavan disease (CD) is a neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.] |
| obsolete_campomelic dysplasia | Orphanet_140 | |
| Treponema pallidum | NCBITaxon_160 | |
| obsolete_FGFR3-related chondrodysplasia | Orphanet_93420 | |
| obsolete_multiple epiphyseal dysplasia and pseudoachondroplasia | Orphanet_93429 | |
| obsolete_short rib dysplasia | Orphanet_93426 | |
| obsolete_filamin-related bone disorder | Orphanet_93425 | |
| obsolete_perlecan-related bone disorder | Orphanet_93424 | |
| obsolete_sulfation-related bone disorder | Orphanet_93423 | |
| obsolete_type 11 collagen-related bone disorder | Orphanet_93422 | |
| amikacin | CHEBI_2637 | [An alpha-D-glucoside that has formula C22H43N5O13.] |
| Caldicellulosiruptor saccharolyticus | NCBITaxon_44001 |