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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
split hand-foot malformation 1 with sensorineural hearing loss
Summary
- Synonym
-
- SHFM1D
- congenital deafness with split hands and feet
- 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.
- Super Class
- autosomal recessive disease split hand-foot malformation
External Links
- Disease Ontology
- DOID:0090024
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q13478 | Interleukin-18 receptor 1 | |
| Q7L5Y1 | Mitochondrial enolase superfamily member 1 |
