ZFIN Human Disease: Antley-Bixler syndrome with disordered steroidogenesis

OBO ID: DOID:0050462

Term Name:	Antley-Bixler syndrome with disordered steroidogenesis		Search Ontology:
Synonyms:	trapezoidocephaly-synostosis syndrome
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. (2)
References:	OMIM:201750 SNOMEDCT_US_2021_09_01:62964007
Ontology:	Human Disease ( DOID:0050462 )

Relationships

is a type of:	Antley-Bixler syndrome autosomal recessive disease syndrome Antley-Bixler syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Antley-Bixler syndrome with disordered steroidogenesis PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
POR	porb pora	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	201750

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None