omodysplasia 2

Term ID

DOID:0080845

Synonyms

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/

References

• MESH:C567664
• OMIM:164745
• SNOMEDCT_US_2023_03_01:725165009
• UMLS_CUI:C2750355

Ontology

Human Disease   ( DOID:0080845 )