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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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achondrogenesis type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain IAGP
EXP
ISS		 ClinVar Annotator: match by term: Achondrogenesis type II
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Chondrogenesis imperfecta
OMIM:200610
ClinVar Annotator: match by term: Achondrogenesis type II | ClinVar Annotator: match by term: Chondrogenesis imperfecta		 ClinVar
OMIM
CTD
MouseDO		 PMID:7695699 PMID:7741714 PMID:7752132 PMID:7757081 PMID:7829510 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    Developmental Disease 36464
      bone development disease 3275
        osteochondrodysplasia 1231
          achondroplasia 59
            achondrogenesis type II 1
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      musculoskeletal system disease 11642
        connective tissue disease 7446
          bone disease 5601
            bone development disease 3275
              osteochondrodysplasia 1231
                achondroplasia 59
                  achondrogenesis type II 1
paths to the root