spondyloepiphyseal dysplasia tarda
(Q22965584)
spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22
spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22
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Current Data About
spondyloepiphyseal dysplasia tarda
| (P31) |
(Q3311537)
(Q929833) (Q55788864)
(Q112193867) |
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| (P279) |
(Q7578956)
(Q18553493)
(Q18966185)
(Q55010090)
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| (P1692) |
756.9
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| (P2293) |
(Q18031434)
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| (P2888) |
http://www.orpha.net/ORDO/Orphanet_93284
http://purl.obolibrary.org/obo/DOID_0080362
http://identifiers.org/doid/DOID:0080362
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| (P5008) |
(Q4099686)
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other details
| aliases |
Autosomal dominant spondyloepiphyseal dysplasia tarda SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, AUTOSOMAL DOMINANT X-linked spondyloepiphyseal dysplasia tarda |
| description | spondyloepimetaphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has material basis in mutation in the SEDL gene on chromosome Xp22 |
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