|
DOID:0050462 - Antley-Bixler syndrome
Disease Ontology Definition:An autosomal recessive disease 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,
Echinobase Genes
:
por
| 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: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive disease (is_a)