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 - skin of cheek

MONDO:0008803 - skin of cheek

MIM:

MIM:201750 - ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1
MIM:207410 - ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

MIM:201750 - ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS; ABS1

MIM:207410 - ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

Other Model Organisms: Alliance, 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)