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frontometaphyseal dysplasia 2
Summary
- Synonym
-
- FMD2
- 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.
- Super Class
- autosomal dominant disease frontometaphyseal dysplasia
External Links
- Disease Ontology
- DOID:0111787
- Mondo Disease Ontology
- OMIM
Related Genes
