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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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Non-syndromic anorectal malformation
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Orphanet_557 |
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TNP03-related limb-girdle muscular dystrophy D2
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Orphanet_55595 |
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HNRNPDL-related limb-girdle muscular dystrophy D3
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Orphanet_55596 |
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FLNA-related X-linked myxomatous valvular dysplasia
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Orphanet_555877 |
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Maturity-onset diabetes of the young
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Orphanet_552 |
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Fibrohistiocytic inflammatory pseudotumor of the liver
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Orphanet_555434 |
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IgG4-related inflammatory pseudotumor of the liver
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Orphanet_555437 |
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Lymphoplasmacytic inflammatory pseudotumor of the liver
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Orphanet_555437 |
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Hereditary hypotrichosis simplex
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Orphanet_55654 |
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Pancreatic agenesis-holoprosencephaly syndrome
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Orphanet_556955 |
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Severe aldosterone synthase deficiency
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Orphanet_556030 |
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Mild aldosterone synthase deficiency
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Orphanet_556037 |
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Congenital tricuspid valve dysplasia
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Orphanet_555874 |
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Rare disorder with Hirschsprung disease as a major feature
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Orphanet_557866 |
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