brachydactyly type B1
(Q32145418)
brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22
brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22
Language:
Current Data About
brachydactyly type B1
| (P31) |
(Q929833)
(Q112193867) |
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| (P279) |
(Q896643)
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| (P2293) |
(Q14897652)
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| (P2888) |
http://purl.obolibrary.org/obo/DOID_0110969
http://identifiers.org/doid/DOID:0110969
http://www.orpha.net/ORDO/Orphanet_93383 |
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| (P5008) |
(Q4099686)
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other details
| aliases |
BDB1 BRACHYDACTYLY, TYPE B1 BRACHYDACTYLY, TYPE B1; BDB1 Brachydactyly, Type B |
| description | brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has material basis in heterozygous mutation in the ROR2 gene on chromosome 9q22 |
External Links
| (P492) |
113000
113000 |
| (P699) |
DOID:0110969
|
| (P1550) |
572385
|
| (P2892) |
C1862112
|
| (P4317) |
985
|
| (P5270) |
MONDO_0007220
|
| (P11430) |
DI-00196
|