Search Ontology:
Human Disease

split hand-foot malformation 1 with sensorineural hearing loss

Term ID
DOID:0090024
Synonyms
  • congenital deafness with split hands and feet
  • SHFM1D
Definition
A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. https://www.ncbi.nlm.nih.gov/pubmed/22121204
References
Ontology
Human Disease   ( DOID:0090024 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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