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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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BTHS
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Orphanet_111 |
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MGA2
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Orphanet_111 |
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Barth syndrome
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Orphanet_111 |
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Johnson-Munson syndrome
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Orphanet_1112 |
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Aphalangy-syndactyly-microcephaly syndrome
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Orphanet_1113 |
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Bronspiegel-Zelnick syndrome
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Orphanet_1116 |
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Gershoni-Baruch-Leibo syndrome
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Orphanet_1117 |
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Aplasia cutis congenita
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Orphanet_1114 |
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Aplasia cutis congenita-intestinal lymphangiectasia syndrome
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Orphanet_1116 |
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X-linked cardioskeletal myopathy and neutropenia
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Orphanet_111 |
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Cardioskeletal myopathy-neutropenia syndrome
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Orphanet_111 |
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Aplasia cutis-myopia syndrome
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Orphanet_1117 |
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Fibular aplasia-ectrodactyly syndrome
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Orphanet_1118 |
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3-methylglutaconic aciduria type 2
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Orphanet_111 |
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