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| created at |
2024-09-23 16:23:50 UTC |
| updated at |
2024-09-23 18:22:39 UTC |
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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/
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20,514 entries
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There is 0 pattern entry.
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Familial infantile myoclonic epilepsy
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Orphanet_352582 |
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Familial infantile myoclonus epilepsy
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Orphanet_352582 |
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Minimal pigment oculocutaneous albinism type 1
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Orphanet_352734 |
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Oncogenic hypophosphatemic osteomalacia
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Orphanet_352540 |
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Combined oxidative phosphorylation defect type 16
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Orphanet_352563 |
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Spectrin-associated autosomal recessive cerebellar ataxia
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Orphanet_352403 |
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Spectrin-associated autosomal recessive cerebellar ataxia type 1
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Orphanet_352403 |
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Autosomal recessive spastic paraplegia type 79
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Orphanet_352654 |
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Autosomal recessive spinocerebellar ataxia type 14
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Orphanet_352403 |
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mtDNA maintenance syndrome
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Orphanet_352456 |
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16q24.1 microdeletion syndrome
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Orphanet_352629 |
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Phalangeal microgeodic syndrome
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Orphanet_352636 |
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9q21.3 microdeletion syndrome
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Orphanet_352665 |
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Attenuated Chédiak-Higashi syndrome
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Orphanet_352723 |
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Atypical Chédiak-Higashi syndrome
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Orphanet_352723 |
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