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DO Term : Antley-Bixler syndrome with disordered steroidogenesis [DOID:0050462] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:201750,
  • 201750,
  • trapezoidocephaly-synostosis syndrome,
  • SNOMEDCT_US_2021_09_01:62964007
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents





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