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Human Disease
Weyers acrofacial dysostosis
- Term ID
- DOID:0111571
- Synonyms
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- acrofacial dysostosis, Weyers type
- Curry-Hall syndrome
- WAD
- Weyers acrodental 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. (4)
- References
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- GARD:497
- MESH:C536695
- MIM:193530
- ORDO:952
- SNOMEDCT_US_2023_03_01:277807007
- UMLS_CUI:C0457013
- Ontology
- Human Disease ( DOID:0111571 )
- is a type of
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Genes Involved
Zebrafish Models