| 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.
|
Severe combined immunodeficiency due to IKK2 deficiency
|
Orphanet_397787 |
|
|
IQSEC2-related syndromic intellectual disability
|
Orphanet_397933 |
|
|
Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
|
Orphanet_397744 |
|
|
Polyglucosan body myopathy type 1
|
Orphanet_397937 |
|
|
COASY protein-associated neurodegeneration
|
Orphanet_397725 |
|
|
Intellectual disability-truncal obesity syndrome
|
Orphanet_397941 |
|
|
Autosomal spastic paraplegia type 58
|
Orphanet_397946 |
|
|
Familial isolated prolactin receptor deficiency
|
Orphanet_397685 |
|
|
T+ B+ severe combined immunodeficiency
|
Orphanet_397802 |
|
|
Autosomal recessive spinocerebellar ataxia type 20
|
Orphanet_397709 |
|
|
Activated PI3K-delta syndrome
|
Orphanet_397596 |
|
|
Macrocephaly-developmental delay syndrome
|
Orphanet_397612 |
|
|
3q27.3 microdeletion syndrome
|
Orphanet_397695 |
|
|
Peripheral neuropathy-myopathy-hoarseness-deafness syndrome
|
Orphanet_397744 |
|
|
Prion protein systemic amyloidosis
|
Orphanet_397606 |
|
