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DO Term : Weyers acrofacial dysostosis [DOID:0111571] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • 193530,
  • acrofacial dysostosis, Weyers type,
  • MESH:C536695,
  • OMIM:193530,
  • SNOMEDCT_US_2023_03_01:277807007,
  • Curry-Hall syndrome,
  • WAD,
  • UMLS_CUI:C0457013,
  • Weyers acrodental dysostosis,
  • ORDO:952,
  • GARD:497
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