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Human Disease

multiple synostoses syndrome 4

Term ID
DOID:0081320
Synonyms
Definition
A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. https://pubmed.ncbi.nlm.nih.gov/29130651/
References
Ontology
Human Disease   ( DOID:0081320 )
Relationships
is a type of
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Genes Involved
Zebrafish Models