diastrophic dysplasia
(Q3335666)
osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism
osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism
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Current Data About
diastrophic dysplasia
| (P18) |
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| (P31) |
(Q55788864)
(Q929833) (Q112193867) |
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| (P279) |
(Q3251367)
(Q55787807)
(Q55788800)
(Q200779)
(Q10267817)
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| (P1692) |
756.89
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| (P1748) |
C156311
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| (P1995) |
(Q1071953)
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| (P2293) |
(Q15311810)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_14687
http://identifiers.org/doid/DOID:14687
http://www.orpha.net/ORDO/Orphanet_628 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
Dd DIASTROPHIC DYSPLASIA Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant DIASTROPHIC DYSPLASIA; DTD DTD Diastrophic dwarfism |
| description | osteochondrodysplasia that has material basis in abnormal cartilage development due to mutations in the SLC26A2 gene which results in short limb dwarfism |
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