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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:achondrogenesis type IB
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Accession:DOID:0080055 term browser browse the term
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. (DO)
Synonyms:exact_synonym: ACG1B;   Fraccaro achondrogenesis;   achondrogenesis type 1B;   achondrogenesis, Fraccaro type
 primary_id: MESH:C536016
 alt_id: OMIM:600972;   RDO:0001426
 xref: GARD:460

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    Developmental Disease 16381
      bone development disease 2182
        osteochondrodysplasia 832
          achondroplasia 52
            achondrogenesis type IB 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14117
      musculoskeletal system disease 7378
        connective tissue disease 5008
          bone disease 3672
            bone development disease 2182
              osteochondrodysplasia 832
                achondroplasia 52
                  achondrogenesis type IB 1
paths to the root