Metadata | |
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ID | DOID:0080845 |
Name | omodysplasia 2 |
Definition | An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. https://pubmed.ncbi.nlm.nih.gov/25759469/ |
Xrefs |
SNOMEDCT_US_2023_03_01:725165009 |
Parent Relationships |
is_a omodysplasia |