| 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.
|
Isolated thyroid-stimulating hormone deficiency
|
Orphanet_90674 |
|
|
Long QT interval-deafness syndrome
|
Orphanet_90647 |
|
|
Long QT interval-hearing loss syndrome
|
Orphanet_90647 |
|
|
Autosomal dominant isolated neurosensory deafness type DFNA
|
Orphanet_90635 |
|
|
Autosomal recessive isolated neurosensory deafness type DFNB
|
Orphanet_90636 |
|
|
Autosomal dominant isolated neurosensory hearing loss type DFNA
|
Orphanet_90635 |
|
|
Autosomal recessive isolated neurosensory hearing loss type DFNB
|
Orphanet_90636 |
|
|
Autosomal dominant isolated sensorineural deafness type DFNA
|
Orphanet_90635 |
|
|
Autosomal recessive isolated sensorineural deafness type DFNB
|
Orphanet_90636 |
|
|
Autosomal dominant isolated sensorineural hearing loss type DFNA
|
Orphanet_90635 |
|
|
Charcot-Marie-Tooth disease-hearing loss syndrome
|
Orphanet_90658 |
|
|
Isolated mitochondrial neurosensory deafness
|
Orphanet_90641 |
|
|
Mitochondrial non-syndromic neurosensory deafness
|
Orphanet_90641 |
|
|
X-linked isolated neurosensory deafness type DFN
|
Orphanet_90625 |
|
|
X-linked non-syndromic neurosensory deafness type DFN
|
Orphanet_90625 |
|
