Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_disorder of galactose metabolism | Orphanet_308467 | |
| pharyngeal tonsil | UBERON_0001732 | [The lymph tissue in the roof and posterior wall of the nasopharynx.] |
| obsolete_erythrocyte galactose epimerase deficiency | Orphanet_308473 | |
| oropharynx | UBERON_0001729 | [The portion of the pharynx that lies between the soft palate and the upper edge of the epiglottis.] |
| gustatory system | UBERON_0001033 | [The sensory system for the sense of taste.] |
| larynx | UBERON_0001737 | [A continuation of the pharynx that is involved in breathing, sound production, and protecting the trachea against food aspiration.] |
| palatine uvula | UBERON_0001734 | [Conic projection from the posterior edge of the middle of the soft palate, composed of connective tissue containing a number of racemose glands, and some muscular fibers.] |
| obsolete_vitamin B12-responsive methylmalonic acidemia, type cblDv2 | Orphanet_308442 | |
| submandibular gland | UBERON_0001736 | [Either of the paired compound tubuloalveolar (aka tubuloacinar) major salivary glands composed of both serous and mucous secretory cells and situated beneath the mandible.] |
| Aminoacylase deficiency | Orphanet_308448 | |
| obsolete_Bannayan-Riley-Ruvalcaba syndrome | Orphanet_109 | [Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare congenital disorder characterized by hamartomatous intestinal polyposis, lipomas, macrocephaly and genital lentiginosis.] |
| obsolete_disorder of neutral amino acid transport | Orphanet_308451 | |
| BOR syndrome | Orphanet_107 | [The symptoms and/or signs of branchio-oto-renal syndrome are consistent with underdeveloped (hypoplastic) or absent kidneys with resultant renal insufficiency or renal failure.Ear anomalies include extra openings in front of the ears, extra pieces of skin in front of the ears (preauricular tags), or further malformation or absence of the outer ear (pinna). Malformation or absence of the middle ear is also possible, individuals can have mild to profound hearing loss. People with BOR may also have cysts or fistulae along the sides of their neck.] |
| obsolete_atresia of urethra | Orphanet_105 | |
| obsolete_Leber hereditary optic neuropathy | Orphanet_104 | [Leber's hereditary optic neuropathy (LHON) is a mitochondrial neurodegenerative disease affecting the optic nerve and often characterized by sudden vision loss in young adult carriers.] |
| obsolete_Genetic optic atrophy | Orphanet_103 | [Genetic optic atrophy (GOA) is a form of inherited optic neuropathy which typically manifest as symmetric, bilateral, and painless central visual loss.] |
| Dentatorubral pallidoluysian atrophy | Orphanet_101 | [Dentatorubral pallidoluysian atrophy (DRPLA) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by involuntary movements, ataxia, epilepsy, mental disorders, cognitive decline and prominent anticipation.] |
| Autosomal dominant cerebellar ataxia type 4 | Orphanet_94149 | |
| Ataxia-telangiectasia | Orphanet_100 | |
| DNA repair defect other than combined T-cell and B-cell immunodeficiencies | Orphanet_169346 |