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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
For additional species annotation, visit the Alliance of Genome Resources.



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      bone development disease 1875
        osteochondrodysplasia 614
          achondroplasia 15
            achondrogenesis type IB 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                achondroplasia 15
                  achondrogenesis type IB 1
paths to the root