Search Ontology:
Human Disease

frontometaphyseal dysplasia 2

Term ID
DOID:0111787
Synonyms
  • 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. https://www.ncbi.nlm.nih.gov/pubmed/27426733
References
Ontology
Human Disease   ( DOID:0111787 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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