loading...| Preferred Name | VERTICAL TALUS, CONGENITAL | |
| Synonyms |
CVT PES VALGUS, CONGENITAL CONVEX ROCKER-BOTTOM FOOT |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/192950 |
|
| altLabel |
CVT PES VALGUS, CONGENITAL CONVEX ROCKER-BOTTOM FOOT |
|
| cui |
C0240912 |
|
| Gene Locus |
2q31-q32 |
|
| Gene Symbol |
HOX4D HOXD10 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU015077 http://purl.bioontology.org/ontology/OMIM/MTHU015078 http://purl.bioontology.org/ontology/OMIM/MTHU015067 http://purl.bioontology.org/ontology/OMIM/MTHU015075 http://purl.bioontology.org/ontology/OMIM/MTHU015070 http://purl.bioontology.org/ontology/OMIM/MTHU015074 http://purl.bioontology.org/ontology/OMIM/MTHU015072 http://purl.bioontology.org/ontology/OMIM/MTHU015071 http://purl.bioontology.org/ontology/OMIM/MTHU015069 http://purl.bioontology.org/ontology/OMIM/MTHU015076 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
192950 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
VERTICAL TALUS, CONGENITAL |
|
| Scope Statement |
Apparent in newborn at birth [MISCELLANEOUS] Patients older than 60 years have severe degenerative arthritis in the feet [MISCELLANEOUS] Patients between 30 and 60 years have discomfort with prolonged standing [MISCELLANEOUS] Patients younger than 30 years complain only that they cannot run fast [MISCELLANEOUS] Caused by mutation in the homeobox D10 gene (HOXD10, 142984.0001) [MOLECULAR BASIS] Isolated finding [MISCELLANEOUS] |
|
| tui |
T019 |