FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term achondrogenesis type IB ID (Ontology) DOID:0080055 (Human Disease)
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.
Also Known As "achondrogenesis Fraccaro type"
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 Genes
 achondrogenesis type IB       1
 for disease ribbon | achondrogenesis type IB       1
 model of | achondrogenesis type IB       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
osteochondrodysplasia            |
 |__achondrogenesis______________|
                                 achondrogenesis type IB  1 rec.
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Is a autosomal recessive disease
achondrogenesis
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Synonyms
  • "achondrogenesis Fraccaro type" EXACT
Secondary IDs
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GARD:460
MIM:600972