OBO ID: DOID:0090024
Term Name: split hand-foot malformation 1 with sensorineural hearing loss Search Ontology:
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)
OTHER split hand-foot malformation 1 with sensorineural hearing loss PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
DLX5 ?Split-hand/foot malformation 1 with sensorineural hearing loss 220600
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None