| 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.
|
Buschke scleredema
|
Orphanet_352763 |
|
|
Lissencephaly type 2 with muscular and ocular involvement
|
Orphanet_352687 |
|
|
Lissencephaly type 2 without muscular or eye involvement
|
Orphanet_352682 |
|
|
Lissencephaly type 2 without muscular or ocular involvement
|
Orphanet_352682 |
|
|
LGMD type 2U
|
Orphanet_352479 |
|
|
Kufs type B disease
|
Orphanet_352709 |
|
|
DNA2-related mitochondrial DNA deletion syndrome
|
Orphanet_352470 |
|
|
ISPD-related LGMD R20
|
Orphanet_352479 |
|
|
Temperature-sensitive oculocutaneous albinism type 1
|
Orphanet_352737 |
|
|
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
|
Orphanet_352563 |
|
|
Autosomal recessive cerebellar ataxia due to GBA2 deficiency
|
Orphanet_352641 |
|
|
Autosomal recessive cerebellar ataxia with late-onset spasticity
|
Orphanet_352641 |
|
|
Neuronal ceroid cipofuscinosis type 13
|
Orphanet_352709 |
|
|
Retinol dystrophy-iris coloboma-comedogenic acne syndrome
|
Orphanet_352718 |
|
|
Hereditary benign corneal intraepithelial dyskeratosis
|
Orphanet_352657 |
|
