OBO ID: DOID:0080845
Term Name: omodysplasia 2 Search Ontology:
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
is a type of:
OTHER omodysplasia 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FZD2 Omodysplasia 2 164745
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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