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Summary Literature (0)
DOID:0080055 - achondrogenesis type IB

Disease Ontology Definition: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

Xenbase Genes : slc26a2, slc26a2.2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010966 - achondrogenesis type IB


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): achondrogenesis (is_a), autosomal recessive disease (is_a)