Visualize Submit Comment
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

OMIM:617137

Synonyms

FMD2 [EXACT]

Parent Relationships

is_a frontometaphyseal dysplasia

is_a autosomal dominant disease

Add an item to the term tracker