Term Name: | achondrogenesis type IB |
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Synonyms: | achondrogenesis Fraccaro type |
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. |
Ontology: | Human Disease [DOID:0080055] ( DOID:0080055 ) |