Split Hand-Foot Malformation 1
Disease ID: disease_node_15709
Connections displayed (default: 10).
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| Dbxref | ICD10CM:Q71.6, MIM:183600, ORDO:2440 |
|---|---|
| Subclassof | DOID_0050736, DOID_0090020 |
| Data Source | DOID |
| Synonyms | SHFD1, SHFM1 |
| Disease Has Location | UBERON_0002398, UBERON_0002387 |
| Doid Label | split hand-foot malformation 1 |
| Doid Description | A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_15709 |
| Doid Id | DOID_0090021 |
| Label | Split Hand-Foot Malformation 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)