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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 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;   NCI:C3816



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    Developmental Disease 17563
      bone development disease 2252
        osteochondrodysplasia 857
          achondroplasia 53
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      musculoskeletal system disease 7720
        connective tissue disease 5254
          bone disease 3801
            bone development disease 2252
              osteochondrodysplasia 857
                achondroplasia 53
                  achondrogenesis type II 1
paths to the root