| 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.
|
Lower lip fistula
|
Orphanet_141064 |
|
|
Nasal dorsum fistula
|
Orphanet_141219 |
|
|
Papillary or follicular thyroid carcinoma
|
Orphanet_146 |
|
|
Corneal dystrophy-perceptive hearing loss syndrome
|
Orphanet_1490 |
|
|
Non-involuting congenital hemangioma
|
Orphanet_141179 |
|
|
Autosomal dominant hereditary sensory and autonomic neuropathy
|
Orphanet_140474 |
|
|
Autosomal recessive hereditary sensory and autonomic neuropathy
|
Orphanet_140477 |
|
|
Nasal glial heterotopia
|
Orphanet_141112 |
|
|
Homozygous familial hypobetalipoproteinemia
|
Orphanet_14 |
|
|
Isolated congenital hypoglossia/aglossia
|
Orphanet_141152 |
|
|
Infantile-onset multisystem inflammatory disease
|
Orphanet_1451 |
|
|
Neonatal-onset multisystem inflammatory disease
|
Orphanet_1451 |
|
|
Arthrogryposis-hyperkeratosis syndrome, lethal form
|
Orphanet_1485 |
|
|
Autosomal recessive limb-girdle muscular dystrophy type 2J
|
Orphanet_140922 |
|
|
Uveal coloboma-cleft lip and palate-intellectual disability
|
Orphanet_1473 |
|
