| 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.
|
Rare infantile hemangioma
|
Orphanet_210589 |
|
|
Developmental delay-hypotonia-extremities hypertrophy syndrome
|
Orphanet_2101 |
|
|
Autosomal recessive intermediate osteopetrosis
|
Orphanet_210110 |
|
|
Congenital temporomandibular joint ankylosis
|
Orphanet_210576 |
|
|
Dysmorphism-pectus carinatum-joint laxity syndrome
|
Orphanet_2104 |
|
|
Congenital lethal myopathy, Compton-North type
|
Orphanet_210163 |
|
|
Infantile hemangioma of rare localization
|
Orphanet_210589 |
|
|
Sterile multifocal osteomyelitis with periostitis and pustulosis
|
Orphanet_210115 |
|
|
Early-onset dystonia parkinsonism
|
Orphanet_210571 |
|
|
Hallermann-Streiff-François syndrome, severe form
|
Orphanet_2109 |
|
|
Inherited congenital spastic quadriplegia
|
Orphanet_210141 |
|
|
Inherited congenital spastic tetraplegia
|
Orphanet_210141 |
|
|
Grubben-de Cock-Borghgraef syndrome
|
Orphanet_2101 |
|
|
Guízar Vázquez-Sánchez-Manzano syndrome
|
Orphanet_2104 |
|
|
Macrocephaly-intellectual disability-autism syndrome
|
Orphanet_210548 |
|
