Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| obsolete_neurenteric cyst | Orphanet_268865 | |
| Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | Orphanet_73246 | |
| obsolete_mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency | Orphanet_99898 | |
| Right temporal lobar atrophy | Orphanet_293848 | [Right temporal lobar atrophy (RTLA) is an anatomic variant of frontotemporal dementia (FTD), characterized by behavioral dysfunction, personality changes, episodic memory loss, and prosopagnosia; attributable to an asymmetrical predominantly right-sided, frontotemporal atrophy.] |
| Genetic frontotemporal degeneration with dementia | Orphanet_276061 | |
| obsolete_isolated amyelia | Orphanet_268868 | |
| Spinal muscular atrophy - Dandy-Walker malformation - cataracts | Orphanet_73245 | |
| obsolete_rippling muscle disease | Orphanet_97238 | |
| hair cell posterior macula | ZFA_0000281 | [Specialized neuronal receptor cells of the lateral line and acoustico-vestibular systems. (Also see Anatomical Atlas entry for <a href='http://zfin.org/zf_info/anatomy/dict/hair_cell/hair_cell.html'>hair cells</a> by T. Whitfield.)] |
| Primary tethered chord syndrome | Orphanet_268861 | |
| Malformation of the neurenteric canal, spinal cord and column | Orphanet_268843 | |
| obsolete_autosomal recessive spastic paraplegia type 66 | Orphanet_401815 | |
| Non-syndromic genetic deafness | Orphanet_87884 | |
| Rare genetic deafness | Orphanet_96210 | |
| somatic stem cell division | GO_0048103 | [The self-renewing division of a somatic stem cell, a stem cell that can give rise to cell types of the body other than those of the germ-line.] |
| cell division | GO_0051301 | [The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.] |
| Autosomal recessive spastic paraplegia type 64 | Orphanet_401810 | |
| 5-hydroxylysine | CHEBI_60175 | [A hydroxylysine that is lysine substituted by a hydroxy group at position 5.] |
| obsolete_reducing body myopathy | Orphanet_97239 | |
| organic cyclic compound metabolic process | GO_1901360 | [ The chemical reactions and pathways involving organic cyclic compound. ] |