FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term frontometaphyseal dysplasia 2 ID (Ontology) DOID:0111787 (Human Disease)
Definition A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15.
Also Known As "FMD2"
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 Genes
 frontometaphyseal dysplasia 2       3
 for disease ribbon | frontometaphyseal dysplasia 2       3
 model of | frontometaphyseal dysplasia 2       3
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_______________
otopalatodigital syndrome spectrum disorder  |
 |__frontometaphyseal dysplasia______________|
                                             frontometaphyseal dysplasia 2  3 rec.
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Is a autosomal dominant disease
frontometaphyseal dysplasia
Part of
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Synonyms
  • "FMD2" EXACT OMO:0003012
Secondary IDs
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MIM:617137