OBO ID: DOID:0050462
Term Name: Antley-Bixler syndrome Search Ontology:
Synonyms:
  • trapezoidocephaly-synostosis syndrome
Definition: A craniosynostosis 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. http://en.wikipedia.org/wiki/Antley-Bixler_syndrome
References:
Ontology: Human Disease   (DOID:0050462)
OTHER Antley-Bixler syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None