Antley-Bixler syndrome with disordered steroidogenesis

Summary

DOID:0050462 - Antley-Bixler syndrome with disordered steroidogenesis

Disease Ontology 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.

Synonyms: trapezoidocephaly-synostosis syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: por, fgfr2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0008803 - Antley-Bixler syndrome

MONDO:0008803 - Antley-Bixler syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): Antley-Bixler syndrome (is_a), autosomal recessive disease (is_a), craniosynostosis (is_a), syndrome (is_a)