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DO Term : achondrogenesis type IB [DOID:0080055] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen.
  • synonyms:
  • achondrogenesis Fraccaro type,
  • GARD:460,
  • OMIM:600972,
  • 600972
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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