FNS-Harmony

Last uploaded: November 2, 2023
Preferred Name

Weyers acrofacial dysostosis

Synonyms
Definitions

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.

ID

http://purl.obolibrary.org/obo/DOID_0111571

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.

imported from

http://purl.obolibrary.org/obo/doid.owl

label

Weyers acrofacial dysostosis

prefixIRI

DOID:0111571

prefLabel

Weyers acrofacial dysostosis

subClassOf

http://purl.obolibrary.org/obo/DOID_0060379

http://purl.obolibrary.org/obo/DOID_0050736

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