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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
 xref: GARD:8713
For additional species annotation, visit the Alliance of Genome Resources.


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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

Term paths to the root
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Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      musculoskeletal system disease 5539
        bone disease 3471
          spinal disease 1439
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 16022
    disease of anatomical entity 15275
      Skin and Connective Tissue Diseases 5371
        connective tissue disease 4007
          bone disease 3471
            bone development disease 1263
              osteochondrodysplasia 430
                achondroplasia 11
                  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.