Visualize Submit Comment
Metadata
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

MESH:C567664

OMIM:164745

SNOMEDCT_US_2023_03_01:725165009

UMLS_CUI:C2750355

Parent Relationships

is_a omodysplasia

is_a autosomal dominant disease

Add an item to the term tracker