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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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Congenital granular cell tumor
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Orphanet_157826 |
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Trigeminal autonomic cephalalgia
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Orphanet_157843 |
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Alopecia-progressive neurological defect-endocrinopathy syndrome
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Orphanet_157954 |
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Idiopathic immunoglobulin deficiency
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Orphanet_1572 |
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Primary antibody deficiency
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Orphanet_1572 |
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Carnitine palmitoyltransferase deficiency type 2
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Orphanet_157 |
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Infantile striatonigral degeneration
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Orphanet_1576 |
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Pterin-4 alpha-carbinolamine dehydratase deficiency
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Orphanet_1578 |
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Early-onset prion disease with prominent psychiatric features
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Orphanet_157941 |
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Combined immunodeficiency due to RAG 1/2 deficiency
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Orphanet_157949 |
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Congenital muscular dystrophy due to LMNA mutation
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Orphanet_157973 |
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Congenital or early infantile CACH syndrome
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Orphanet_157713 |
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Retinal detachment-occipital encephalocele syndrome
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Orphanet_1571 |
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Adult basal ganglia disease
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Orphanet_157846 |
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Symbrachydactyly of hands and feet
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Orphanet_1570 |
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