Terminology Service for NFDI4Health
All terms in EFO
| Label | Id | Description |
|---|---|---|
| presumptive enteric nervous system | UBERON_0006600 | |
| presumptive ectoderm | UBERON_0006601 | [Presumptive structure of the blastula that will develop into ectoderm.] |
| Autosomal recessive spastic paraplegia type 5A | Orphanet_100986 | |
| Autosomal dominant spastic paraplegia type 8 | Orphanet_100989 | |
| Autosomal dominant spastic paraplegia type 6 | Orphanet_100988 | |
| obsolete_autosomal recessive pure spastic paraplegia | Orphanet_100982 | |
| Autosomal dominant spastic paraplegia type 4 | Orphanet_100985 | |
| Autosomal dominant spastic paraplegia type 3 | Orphanet_100984 | |
| obsolete_autosomal recessive complex spastic paraplegia | Orphanet_100981 | |
| mild hypophosphatasia | MONDO_0600011 | [Mild hypophosphatasia is the most common form of hypophosphatasia characterized by low alkaline phosphatase, unspecific clinical signs, and typically presents in individuals in adulthood.] |
| obsolete_autosomal dominant pure spastic paraplegia | Orphanet_100980 | |
| Rare non-syndromic cataract | Orphanet_217049 | |
| obsolete_Autosomal recessive childhood-onset cortical cataract | Orphanet_217046 | [Childhood-onset cortical cataract is an autosomal recessive cataract that develops during childhood or adolescence with increasing opacity of the lens not present at birth, potentially leading to blindness.] |
| obsolete_spondyloepimetaphyseal dysplasia, Handigodu type | Orphanet_99642 | |
| obsolete_dappled diaphyseal dysplasia | Orphanet_99645 | |
| obsolete_cheirospondyloenchondromatosis | Orphanet_99647 | |
| obsolete_metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | Orphanet_99646 | |
| obsolete_early-onset non-syndromic cataract | Orphanet_217052 | |
| substance withdrawal syndrome | EFO_0005800 | [A substance-specific organic brain syndrome that follows the discontinuation of administration or use, or reduction in intake of an addictive substance, e.g. opioids, barbiturates and alcohol; amphetamines or similarly acting sympathomimetics; cocaine; nicotine; sedatives, hypnotics, or anxiolytics. Syndrome manifests with diverse, often painful physical and psychological symptoms, which include but not limited to intense drug craving, anxiety, depression, insomnia, nausea, perspiration, body aches, tremors, hallucinations, and convulsions.] |
| Autosomal recessive intermediate Charcot-Marie-Tooth disease type A | Orphanet_217055 |