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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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Contractures-ectodermal dysplasia-cleft lip/palate syndrome
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Orphanet_1484 |
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Bilateral microtia-hearing loss-cleft palate syndrome
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Orphanet_140963 |
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Autosomal dominant macrothrombocytopenia
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Orphanet_140957 |
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Coloboma of macula-brachydactyly type B syndrome
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Orphanet_1471 |
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Osseous venous malformation
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Orphanet_140436 |
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Frontonasal arteriovenous malformation
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Orphanet_141168 |
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Maxillary arteriovenous malformation
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Orphanet_141171 |
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Mandibular arteriovenous malformation
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Orphanet_141174 |
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Diffuse lymphatic malformation
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Orphanet_141209 |
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Disseminated lymphatic malformation
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Orphanet_141209 |
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Isolated congenital maxillomandibular fusion
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Orphanet_141214 |
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Cerebrofacial arteriovenous metameric syndrome
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Orphanet_141189 |
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Cerebrofacial arteriovenous metameric syndrome type 1
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Orphanet_141194 |
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Cerebrofacial arteriovenous metameric syndrome type 3
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Orphanet_141199 |
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Titin-related limb-girdle muscular dystrophy R10
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Orphanet_140922 |
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