Antley-Bixler Syndrome With Disordered Steroidogenesis
Disease ID: disease_node_13625
Connections displayed (default: 10).
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| Dbxref | MIM:201750, SNOMEDCT_US_2021_09_01:62964007 |
|---|---|
| Subclassof | DOID_0081289, DOID_225, DOID_0050737 |
| Data Source | DOID |
| Synonyms | trapezoidocephaly-synostosis syndrome |
| Doid Label | Antley-Bixler syndrome with disordered steroidogenesis |
| Doid Description | An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13625 |
| Doid Id | DOID_0050462 |
| Disease Has Basis In | SYMP_0000462 |
| Label | Antley-Bixler Syndrome With Disordered Steroidogenesis |
- Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Antley-Bixler Syndrome(ID:disease_node_13623) (Disease)