FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term omodysplasia 2 ID (Ontology) DOID:0080845 (Human Disease)
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.
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 Genes
 omodysplasia 2       1
 for disease ribbon | omodysplasia 2       1
 model of | omodysplasia 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
osteochondrodysplasia           |
 |__omodysplasia________________|
                                omodysplasia 2  1 rec.
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Is a autosomal dominant disease
omodysplasia
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MESH:C567664
MIM:164745
SNOMEDCT_US_2023_03_01:725165009
UMLS_CUI:C2750355