Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss
Disease ID: disease_node_15708
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| Dbxref | ICD10CM:Q87.2, MIM:220600, ORDO:71271 |
|---|---|
| Subclassof | DOID_0090020, DOID_0050737 |
| Data Source | DOID |
| Synonyms | SHFM1D, congenital deafness with split hands and feet |
| Disease Has Location | UBERON_0002398, UBERON_0002387 |
| Doid Label | split hand-foot malformation 1 with sensorineural hearing loss |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15708 |
| Doid Id | DOID_0090024 |
| Label | Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)