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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;   RDO:0001427
 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
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          achondroplasia 11
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                achondroplasia 11
                  achondrogenesis type II 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.