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General Information
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| Term |
split hand-foot malformation 1 with sensorineural hearing loss |
ID (Ontology) |
DOID:0090024 (Human Disease) |
| 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. |
| Also Known As |
"congenital deafness with split hands and feet" ; "SHFM1D" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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split hand-foot malformation 1 with sensorineural hearing loss | 1 | for disease ribbon | split hand-foot malformation 1 with sensorineural hearing loss | 1 | model of | split hand-foot malformation 1 with sensorineural hearing loss | 1 |
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Relationships