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loading...| Preferred Name |
Weyers acrofacial dysostosis |
|
| Synonyms |
Acrodental dysostosis of Weyers |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C536695 |
|
| altLabel |
Acrodental dysostosis of Weyers Acrofacial dysostosis of Weyers Weyers acrodental dysostosis Curry-Hall syndrome Curry Hall syndrome |
|
| cui |
C0457013 |
|
| HM |
D014071 D000015 D017880 |
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| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D000015 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
15 |
|
| MMR |
20160929 |
|
| notation |
C536695 |
|
| prefLabel |
Weyers acrofacial dysostosis |
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| SC |
3 |
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| Scope Statement |
A congenital disorder characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature. It is caused by mutations in the limbin (LBN/EVC2) gene. Mutations in this gene are also associated with ELLIS-VAN CREVELD SYNDROME, which is phenotypically similar. OMIM: 193530 |
|
| TERMUI |
T740146 T738653 T740144 T738654 T740147 T740145 |
|
| TH |
GHR (2014) ORD (2010) |
|
| tui |
T047 |
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