Antley-Bixler syndrome with disordered steroidogenesis

Antley-Bixler syndrome with disordered steroidogenesis

http://purl.obolibrary.org/obo/DOID_0050462

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. [ http://purl.obolibrary.org/obo/ECO_0007638 url:http://en.wikipedia.org/wiki/Antley-Bixler_syndrome url:https://pubmed.ncbi.nlm.nih.gov/35070845/ ]

Synonyms: trapezoidocephaly-synostosis syndrome

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database cross reference

MIM:201750
SNOMEDCT_US_2021_09_01:62964007

comment

OMIM mapping confirmed by DO. [SN].

has exact match

MESH:D054882

has obo namespace

disease_ontology

DOID:0050462

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Subclass of:

autosomal recessive disease
syndrome
Antley-Bixler syndrome
has material basis in some autosomal recessive inheritance
disease has basis in some symptom