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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.
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
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Orphanet_585867 |
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Facial infused lipomatosis
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Orphanet_583097 |
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Fibroadipose infiltrating lipomatosis
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Orphanet_583097 |
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Congenital infiltrating lipomatosis of the face
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Orphanet_583097 |
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Santavuori congenital muscular dystrophy
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Orphanet_588 |
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Congenital-onset Steinert myotonic dystrophy
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Orphanet_589821 |
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Childhood-onset Steinert myotonic dystrophy
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Orphanet_589824 |
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Juvenile-onset Steinert myotonic dystrophy
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Orphanet_589827 |
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Adult-onset Steinert myotonic dystrophy
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Orphanet_589830 |
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Late-onset Steinert myotonic dystrophy
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Orphanet_589833 |
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Intraductal tubulopapillary neoplasm of pancreas
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Orphanet_580572 |
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Serine biosynthesis pathway deficiency, infantile/juvenile form
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Orphanet_583595 |
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SMD-corneal dystrophy syndrome
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Orphanet_589435 |
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AML with t(9;22)(q34.1;q11.2)
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Orphanet_585867 |
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B-ALL with t(9;22)(q34.1;q11.2)
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Orphanet_585909 |
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