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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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Combined immunodeficiency due to DOCK2 deficiency
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Orphanet_447737 |
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Combined immunodeficiency due to LRBA deficiency
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Orphanet_445018 |
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Orthostatic intolerance due to NET deficiency
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Orphanet_443236 |
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Combined immunodeficiency due to PGM3 deficiency
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Orphanet_443811 |
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Pure idiopatic dysautonomia
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Orphanet_441 |
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46,XX ovarian dysgenesis-short stature syndrome
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Orphanet_444048 |
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Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
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Orphanet_447974 |
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Regressive spondylometaphyseal dysplasia
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Orphanet_448267 |
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Limb-girdle muscular dystrophy due to POMK deficiency
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Orphanet_445110 |
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Non-specific early-onset epileptic encephalopathy
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Orphanet_442835 |
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Undetermined early-onset epileptic encephalopathy
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Orphanet_442835 |
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X-linked dominant erythropoietic protoporphyria
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Orphanet_443197 |
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Isolated neck extensor myopathy
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Orphanet_447881 |
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Pure autonomic failure
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Orphanet_441 |
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Eosinophilic angiocentric fibrosis
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Orphanet_449566 |
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