About: Antley-Bixler syndrome

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About: Antley-Bixler syndrome Goto Sponge NotDistinct Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

OMIM mapping confirmed by DO. [SN].

Attributes	Values
type	Class
subClassOf	autosomal recessive disease syndrome craniosynostosis nodeID://b50936871 nodeID://b50936872
label	Antley-Bixler syndrome
comment	OMIM mapping confirmed by DO. [SN].
has exact match	MESH:D054882
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0050462
database_cross_reference	OMIM:201750 OMIM:207410 SNOMEDCT_US_2020_03_01:62964007
has_exact_synonym	trapezoidocephaly-synostosis syndrome (en)
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/IAO_0000115	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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50936873

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