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.
Confetti-like macular atrophy
|
Orphanet_221142 |
|
Maternal hyperthermia-induced birth defects
|
Orphanet_2216 |
|
Familial cerebral cavernoma
|
Orphanet_221061 |
|
Hereditary cerebral cavernoma
|
Orphanet_221061 |
|
Familial brain cavernous angioma
|
Orphanet_221061 |
|
Hereditary brain cavernous angioma
|
Orphanet_221061 |
|
Familial cerebral cavernous malformation
|
Orphanet_221061 |
|
Hereditary cerebral cavernous malformation
|
Orphanet_221061 |
|
Autosomal recessive cutis laxa type 1C
|
Orphanet_221145 |
|
Combined hyperactive dysfunction syndrome of the cranial nerves
|
Orphanet_221078 |
|
Cerebral proliferative glomeruloid vasculopathy
|
Orphanet_221126 |
|
Multiple pterygium-malignant hyperthermia syndrome
|
Orphanet_2215 |
|
Acquired peripheral movement disorder
|
Orphanet_221114 |
|
Cervical hypertrichosis-peripheral neuropathy syndrome
|
Orphanet_2218 |
|
Poikiloderma with neutropenia
|
Orphanet_221046 |
|