WormBase Tree Display for DO_term: DOID:0050462
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| DOID:0050462 | Name | Antley-Bixler syndrome with disordered steroidogenesis | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | trapezoidocephaly-synostosis syndrome | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050737 | |||||
| DOID:0081289 | |||||
| DB_info | Database | OMIM | disease | 201750 | |
| Attribute_of | Gene_by_orthology | WBGene00001262 |
