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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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B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
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Orphanet_536467 |
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KRT1-related diffuse NEPPK
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Orphanet_530838 |
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Mixed phenotype acute leukemia
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Orphanet_530995 |
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PLG-related hereditary angioedema with normal C1Inh
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Orphanet_537072 |
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Familial tumoral calcinosis
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Orphanet_53715 |
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Arthrogryposis-anterior horn cell disease syndrome
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Orphanet_53696 |
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Familial cutaneous collagenoma
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Orphanet_53296 |
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Familial APOA5 deficiency
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Orphanet_530849 |
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Familial LMF1 deficiency
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Orphanet_535453 |
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Familial GPIHBP1 deficiency
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Orphanet_535458 |
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Congenital lactase deficiency
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Orphanet_53690 |
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Congenital chloride diarrhea
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Orphanet_53689 |
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Familial multiple discoid fibromas
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Orphanet_538756 |
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X-linked lymphoproliferative disease due to SAP deficiency
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Orphanet_538931 |
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X-linked lymphoproliferative disease due to SH2D1A deficiency
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Orphanet_538931 |
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