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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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Mueller-Weiss osteonecrosis of the tarsal bone
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Orphanet_566943 |
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Homogentisic acid oxidase deficiency
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Orphanet_56 |
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GFM2-related combined oxidative phosphorylation defect
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Orphanet_565624 |
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Combined oxidative phosphorylation defect type 39
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Orphanet_565624 |
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GJC2-related late-onset primary lymphedema
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Orphanet_568051 |
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CELSR1-related late-onset primary lymphedema
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Orphanet_569816 |
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VEGFC-related congenital primary lymphedema
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Orphanet_569821 |
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Congenital autosomal recessive small-platelet thrombocytopenia
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Orphanet_566192 |
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Gonadotropin-independent female-limited sexual precocity
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Orphanet_562 |
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Syndromic congenital sodium diarrhea
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Orphanet_563708 |
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Familial or sporadic hemiplegic migraine
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Orphanet_569 |
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Genetic nephrotic syndrome
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Orphanet_564127 |
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Hereditary nephrotic syndrome
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Orphanet_564127 |
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Cold agglutinin syndrome
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Orphanet_56425 |
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22q11.2 deletion syndrome
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Orphanet_567 |
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