| 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.
|
HA20-related monogenic Behcet-like disease
|
Orphanet_674762 |
|
|
Deficiency in ELF4, X-linked
|
Orphanet_676125 |
|
|
Mucopolysaccharidosis type IX
|
Orphanet_67041 |
|
|
Stellate multiform amelanotic choroidopathy
|
Orphanet_674958 |
|
|
Congenital dyserythropoietic anemia with thombocytopenia
|
Orphanet_67044 |
|
|
Littoral cell angioma
|
Orphanet_673538 |
|
|
Isolated retinal arteriovenous aneurysm 3
|
Orphanet_674924 |
|
|
Classic pilocytic astrocytoma
|
Orphanet_673580 |
|
|
Juvenile pilocytic astrocytoma
|
Orphanet_673580 |
|
|
Anaplastic pilocytic astrocytoma
|
Orphanet_673585 |
|
|
Costeff optic atrophy syndrome
|
Orphanet_67047 |
|
|
Infantile optic atrophy with chorea and spastic paraplegia
|
Orphanet_67047 |
|
|
Atypical macular coloboma
|
Orphanet_674935 |
|
|
Thrombocytopenia with congenital dyserythropoietic anemia
|
Orphanet_67044 |
|
|
TCF12-related syndromic craniosynostosis
|
Orphanet_672979 |
|
