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loading...| Preferred Name | POLYDACTYLY, POSTAXIAL, TYPE A1 | |
| Synonyms |
PAPA POLYDACTYLY, POSTAXIAL PAPA1 POSTAXIAL POLYDACTYLY, TYPE A PAPB POSTAXIAL POLYDACTYLY, TYPE B |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/174200 |
|
| altLabel |
PAPA POLYDACTYLY, POSTAXIAL PAPA1 POSTAXIAL POLYDACTYLY, TYPE A PAPB POSTAXIAL POLYDACTYLY, TYPE B |
|
| cui |
C3887487 C4282400 C1868120 C0220697 |
|
| Gene Locus |
7p13 |
|
| Gene Symbol |
GLI3 PAPA PAPB |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU048660 http://purl.bioontology.org/ontology/OMIM/MTHU048661 http://purl.bioontology.org/ontology/OMIM/MTHU006883 http://purl.bioontology.org/ontology/OMIM/MTHU036337 http://purl.bioontology.org/ontology/OMIM/MTHU015116 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
174200 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
POLYDACTYLY, POSTAXIAL, TYPE A1 |
|
| Scope Statement |
Caused by mutation in the GLI-Kruppel family member GLI3 gene (GLI3, 165240.0004) [MOLECULAR BASIS] |
|
| tui |
T047 T019 |
Create mapping