| 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.
|
Guam parkinsonism-dementia complex
|
Orphanet_90020 |
|
|
Autosomal dominant cutis laxa
|
Orphanet_90348 |
|
|
Autosomal recessive cutis laxa type 1
|
Orphanet_90349 |
|
|
Autosomal recessive cutis laxa type 2
|
Orphanet_90350 |
|
|
Autosomal recessive cutis laxa with severe systemic involvement
|
Orphanet_90349 |
|
|
Autosomal recessive cutis laxa, pulmonary emphysema type
|
Orphanet_90349 |
|
|
Syndromic genetic deafness
|
Orphanet_90642 |
|
|
Isolated TSH deficiency
|
Orphanet_90674 |
|
|
Isolated thyrotropin deficiency
|
Orphanet_90674 |
|
|
Combined 17-hydroxylase/17,20-lyase deficiency
|
Orphanet_90793 |
|
|
Sterol 27-hydroxylase deficiency
|
Orphanet_909 |
|
|
Partial deep dermal and full thickness burns
|
Orphanet_90076 |
|
|
Bornholm eye disease
|
Orphanet_90001 |
|
|
Hemoglobin D disease
|
Orphanet_90039 |
|
|
Von Willebrand disease
|
Orphanet_903 |
|
