| manager |
|
| language |
- |
| license |
- |
| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
|
Terms for rare diseases as defined in ORDO.
The entries were initially sourced from the ORDO version 2024-07-03 as stored in BioPortal.
Namespace: http://www.orpha.net/ORDO/
|
20,514 entries
|
There is 0 pattern entry.
|
Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome
|
Orphanet_166272 |
|
|
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
|
Orphanet_1667 |
|
|
FASTKD2-related infantile mitochondrial encephalomyopathy
|
Orphanet_166105 |
|
|
Dysplasie épiphysaire multiple type Al-Gazali
|
Orphanet_166024 |
|
|
Charcot-Marie-Tooth hereditary neuropathy
|
Orphanet_166 |
|
|
Porokeratotic eccrine nevus
|
Orphanet_166286 |
|
|
Stickler syndrome, non-ocular type
|
Orphanet_166100 |
|
|
Acrokeratosis paraneoplastica of Bazex
|
Orphanet_166113 |
|
|
Comedo nevus of the palm
|
Orphanet_166286 |
|
|
Cerebral diseases of vascular origin with epilepsy
|
Orphanet_166487 |
|
|
Porokeratotic eccrine ostial and dermal duct nevus
|
Orphanet_166286 |
|
|
Autosomal dominant otospondylomegaepiphyseal dysplasia
|
Orphanet_166100 |
|
|
Brachydactyly-short stature-retinitis pigmentosa syndrome
|
Orphanet_166035 |
|
|
Hot water reflex epilepsy
|
Orphanet_166412 |
|
|
Benign infantile seizures associated with mild gastroenteritis
|
Orphanet_166305 |
|
