Visualize
Metadata
DOID DOID:0050462
Name Antley-Bixler syndrome
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.
http://en.wikipedia.org/wiki/Antley-Bixler_syndrome
Synonyms

trapezoidocephaly-synostosis syndrome [EXACT]

Xrefs

MESH:D054882

OMIM:201750

OMIM:207410

SNOMEDCT_US_2018_03_01:62964007

UMLS_CUI:C1860042

UMLS_CUI:C2350233

UMLS_CUI:C2936791

Relationships

is_a autosomal recessive disease

Add an item to the term tracker