Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0080845 )
Relationships
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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