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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.
Preaxial digit brachydactyly-webbed fingers
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Orphanet_633211 |
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GH receptor deficiency
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Orphanet_633 |
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Phosphoribosylaminoimidazole carboxylase deficiency
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Orphanet_633099 |
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Von Recklinghausen disease
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Orphanet_636 |
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Glaucomatocyclitic crisis disease
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Orphanet_636950 |
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Short stature due to growth hormone resistance
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Orphanet_633 |
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Angel-shaped phalango-epiphyseal dysplasia
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Orphanet_63442 |
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Borna virus encephalitis
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Orphanet_637051 |
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Rare gastric epithelial tumor
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Orphanet_63443 |
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Isolated proximal femoral focal deficiency
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Orphanet_633228 |
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Endemic pemphigus foliaceus
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Orphanet_636955 |
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Congenital isolated growth hormone deficiency
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Orphanet_631 |
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Non-acquired isolated growth hormone deficiency
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Orphanet_631 |
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Complete growth hormone insensitivity
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Orphanet_633 |
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Primary growth hormone insensitivity
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Orphanet_633 |
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