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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:Osteopetrosis and Infantile Neuroaxonal Dystrophy
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Accession:DOID:9003031 term browser browse the term
Synonyms:exact_synonym: Infantile osteopetrosis and neuronal storage disease;   Prenatal axonal dystrophy and osteopetrosis
 primary_id: MESH:C536055;   RDO:0001470



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Osteopetrosis and Infantile Neuroaxonal Dystrophy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by term: Osteopetrosis and infantile neuroaxonal dystrophy ClinVar PMID:2668131 PMID:18414213 PMID:18443314 PMID:20301718 PMID:20619503 More... NCBI chr 7:110,851,378...110,891,557
Ensembl chr 7:110,851,378...110,891,114
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    Developmental Disease 14526
      bone development disease 2368
        osteochondrodysplasia 868
          osteosclerosis 59
            osteopetrosis 29
              Osteopetrosis and Infantile Neuroaxonal Dystrophy 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      Skin and Connective Tissue Diseases 7694
        connective tissue disease 5949
          bone disease 4404
            bone development disease 2368
              osteochondrodysplasia 868
                osteosclerosis 59
                  osteopetrosis 29
                    Osteopetrosis and Infantile Neuroaxonal Dystrophy 1
paths to the root