Search Ontology:
Human Disease
achondrogenesis type IB
- Term ID
- DOID:0080055
- Synonyms
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- 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. (4)
- References
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- GARD:460
- MIM:600972
- Ontology
- Human Disease ( DOID:0080055 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models