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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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Autosomal recessive optic atrophy plus syndrome
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Orphanet_67047 |
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Autosomal dominant optic atrophy type 3
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Orphanet_67036 |
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Autosomal recessive optic atrophy type 3
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Orphanet_67047 |
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Hereditary chronic pancreatitis
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Orphanet_676 |
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Malignant atrophic papulosis
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Orphanet_679 |
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Primary benign peritoneal tumor
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Orphanet_676030 |
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Non-syndromic congenital phagocyte functional defect
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Orphanet_674896 |
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Isolated retinal racemose hemangioma
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Orphanet_674924 |
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Paramacular albinotic spot syndrome
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Orphanet_674935 |
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Isolated angioid streaks
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Orphanet_674943 |
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Diffuse unilateral subacute neuroretinitis
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Orphanet_674947 |
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Hypothalamic hamartoblastoma syndrome
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Orphanet_672 |
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Craniosynostosis-facial dysmorphism-brachydactyly syndrome
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Orphanet_672979 |
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Unilateral wipe-out syndrome
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Orphanet_674947 |
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Keratosis palmoplantar-periodontopathy syndrome
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Orphanet_678 |
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