Antley-Bixler Syndrome Without Disordered Steroidogenesis
Disease ID: disease_node_13624
Connections displayed (default: 10).
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| Dbxref | MIM:207410 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081289 |
| Data Source | DOID |
| Doid Label | Antley-Bixler syndrome without disordered steroidogenesis |
| Doid Description | An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13624 |
| Doid Id | DOID_0081290 |
| Label | Antley-Bixler Syndrome Without Disordered Steroidogenesis |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Antley-Bixler Syndrome(ID:disease_node_13623) (Disease)