loading...| Preferred Name |
VOHWINKEL SYNDROME |
|
| Synonyms |
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/124500 |
|
| altLabel |
DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES VOWNKL MUTILATING KERATODERMA KERATODERMA HEREDITARIUM MUTILANS KHM |
|
| cui |
C0265964 |
|
| Gene Locus |
13q11-q12 |
|
| Gene Symbol |
GJB2 BAPS PPK DFNA3A CX26 HID KID DFNB1A |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018719 http://purl.bioontology.org/ontology/OMIM/MTHU005663 http://purl.bioontology.org/ontology/OMIM/MTHU018718 http://purl.bioontology.org/ontology/OMIM/MTHU018721 http://purl.bioontology.org/ontology/OMIM/MTHU006290 http://purl.bioontology.org/ontology/OMIM/MTHU018717 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
124500 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
VOHWINKEL SYNDROME |
|
| Scope Statement |
Allelic to deafness, autosomal recessive 1, (220290), deafness, autosomal dominant 3, (601544), keratoderma, palmoplantar, with deafness, (148350), keratitis-ichthyosis-deafness syndrome, (148210), hystrix-like ichthyosis with deafness, (602540), Bart-Pumphrey syndrome, (149200) [MISCELLANEOUS] Caused by mutation in the gap junction protein, beta-2, 26kD gene (GJB2, 121011.0012) [MOLECULAR BASIS] |
|
| tui |
T019 |