loading...| Preferred Name |
WEYERS ACROFACIAL DYSOSTOSIS |
|
| Synonyms |
CURRY-HALL SYNDROME |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/193530 |
|
| altLabel |
CURRY-HALL SYNDROME WAD ACRODENTAL DYSOSTOSIS OF WEYERS |
|
| cui |
C0457013 |
|
| Gene Locus |
4p16 |
|
| Gene Symbol |
LBN EVC2 WAD |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU001763 http://purl.bioontology.org/ontology/OMIM/MTHU005208 http://purl.bioontology.org/ontology/OMIM/MTHU000848 http://purl.bioontology.org/ontology/OMIM/MTHU014980 http://purl.bioontology.org/ontology/OMIM/MTHU004501 http://purl.bioontology.org/ontology/OMIM/MTHU014978 http://purl.bioontology.org/ontology/OMIM/MTHU027565 http://purl.bioontology.org/ontology/OMIM/MTHU008238 http://purl.bioontology.org/ontology/OMIM/MTHU003747 http://purl.bioontology.org/ontology/OMIM/MTHU002571 http://purl.bioontology.org/ontology/OMIM/MTHU002799 http://purl.bioontology.org/ontology/OMIM/MTHU014979 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
193530 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
WEYERS ACROFACIAL DYSOSTOSIS |
|
| Scope Statement |
Caused by mutation in the limbin gene (EVC2, 607261.0009) [MOLECULAR BASIS] Caused by mutation in the EVC gene (EVC, 604831.0006) [MOLECULAR BASIS] Allelic to Ellis-van Creveld syndrome (225500) [MISCELLANEOUS] |
|
| tui |
T047 |