loading...| Preferred Name | BRACHYDACTYLY, TYPE A2 | |
| Synonyms |
BRACHYMESOPHALANGY II BDA2 MOHR-WRIEDT TYPE BRACHYDACTYLY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/112600 |
|
| altLabel |
BRACHYMESOPHALANGY II BDA2 MOHR-WRIEDT TYPE BRACHYDACTYLY |
|
| cui |
C1832702 |
|
| Gene Locus |
4q23-q24 |
|
| Gene Symbol |
BDA2 BMPR1B BDA1D AMD3 ALK6 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU019275 http://purl.bioontology.org/ontology/OMIM/MTHU019279 http://purl.bioontology.org/ontology/OMIM/MTHU019280 http://purl.bioontology.org/ontology/OMIM/MTHU000073 http://purl.bioontology.org/ontology/OMIM/MTHU019281 http://purl.bioontology.org/ontology/OMIM/MTHU019278 http://purl.bioontology.org/ontology/OMIM/MTHU019276 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
112600 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
BRACHYDACTYLY, TYPE A2 |
|
| Scope Statement |
Caused by mutation in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, 603248.0001) [MOLECULAR BASIS] Caused by mutation in the bone morphogenetic protein 2 gene (BMP2, 112261.0001) [MOLECULAR BASIS] Caused by mutation in the growth/differentiation factor 5 gene (GD5, 601146.0005) [MOLECULAR BASIS] |
|
| tui |
T019 |