loading...| Preferred Name |
VOHWINKEL SYNDROME |
| Synonyms |
VOWNKL |
| ID |
http://purl.bioontology.org/ontology/OMIM/124500 |
| altLabel |
VOWNKL KHM MUTILATING KERATODERMA KERATODERMA HEREDITARIUM MUTILANS DEAFNESS, CONGENITAL, WITH KERATOPACHYDERMIA AND CONSTRICTIONS OF FINGERS AND TOES |
| cui |
C0265964 |
| Gene Locus |
13q11-q12 |
| Gene Symbol |
DFNB1A HID GJB2 PPK DFNA3A KID CX26 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU018719 http://purl.bioontology.org/ontology/OMIM/MTHU018717 http://purl.bioontology.org/ontology/OMIM/MTHU018721 http://purl.bioontology.org/ontology/OMIM/MTHU026940 http://purl.bioontology.org/ontology/OMIM/MTHU018716 http://purl.bioontology.org/ontology/OMIM/MTHU018718 http://purl.bioontology.org/ontology/OMIM/MTHU005663 http://purl.bioontology.org/ontology/OMIM/MTHU018720 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
124500 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
VOHWINKEL SYNDROME |
| tui |
T019 |