| Metadata | |
|---|---|
| ID | DOID:0111571 |
| Name | Weyers acrofacial dysostosis |
| Definition | An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis, https://www.ncbi.nlm.nih.gov/pubmed/10700184, https://www.ncbi.nlm.nih.gov/pubmed/16404586, https://www.ncbi.nlm.nih.gov/pubmed/9399901 |
| Xrefs |
SNOMEDCT_US_2023_03_01:277807007 |
| Subsets |
DO_rare_slim |
| Synonyms |
acrofacial dysostosis, Weyers type [EXACT] Curry-Hall syndrome [EXACT] WAD [EXACT] Weyers acrodental dysostosis [EXACT] |
| Parent Relationships |