Hand-Foot-Genital Syndrome
Disease ID: disease_node_20158
Connections displayed (default: 10).
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| Dbxref | GARD:2594, ICD10CM:Q51.2, MIM:140000, ORDO:2438 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Synonyms | HFGS, hand-foot-uterus syndrome |
| Disease Has Location | UBERON_0001463, UBERON_0003631 |
| Doid Label | hand-foot-genital syndrome |
| Doid Description | A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20158 |
| Doid Id | DOID_0060739 |
| Label | Hand-Foot-Genital Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)