ONTOLOGY REPORT - ANNOTATIONS


Term:achondrogenesis type II
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Accession:DOID:0080056 term browser browse the term
Definition:An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (DO)
Synonyms:exact_synonym: ACG2;   Langer-Saldino achondrogenesis;   achondrogenesis type 2;   achondrogenesis type 2 or hypochondrogenesis;   achondrogenesis, Langer-Saldino type;   chondrogenesis imperfecta
 related_synonym: achondrogenesis type IB, formerly
 primary_id: MESH:C536017
 alt_id: OMIM:200610;   RDO:0001427
 xref: GARD:8713
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achondrogenesis type II term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col2a1 collagen type II alpha 1 chain JBrowse link 7 139,454,945 139,484,403 RGD:7240710
RGD:8554872
RGD:11554173

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Term Annotations click to browse term
  disease 14875
    Developmental Diseases 7711
      bone development disease 891
        osteochondrodysplasia 403
          achondroplasia 10
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      musculoskeletal system disease 3984
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              osteochondrodysplasia 403
                achondroplasia 10
                  achondrogenesis type II 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.