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ONTOLOGY REPORT - ANNOTATIONS


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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achondrogenesis type IB term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc26a2 solute carrier family 26 member 2 JBrowse link 18 56,518,999 56,534,539 RGD:7240710
RGD:8554872
RGD:11068488

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      bone development disease 983
        osteochondrodysplasia 408
          achondroplasia 11
            achondrogenesis type IB 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      musculoskeletal system disease 4271
        connective tissue disease 2763
          bone disease 2215
            bone development disease 983
              osteochondrodysplasia 408
                achondroplasia 11
                  achondrogenesis type IB 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.