Metadata | |
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ID | DOID:0111787 |
Name | frontometaphyseal dysplasia 2 |
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. https://www.ncbi.nlm.nih.gov/pubmed/27426733 |
Xrefs | |
Synonyms |
FMD2 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |