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Metadata
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

MIM:617137

Synonyms

FMD2 [EXACT]

Parent Relationships

is_a frontometaphyseal dysplasia

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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