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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:autosomal recessive osteopetrosis 5
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Accession:DOID:0110939 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. (DO)
Synonyms:exact_synonym: OPTB5;   infantile malignant osteopetrosis 3
 primary_id: MESH:C566883
 alt_id: OMIM:259720
 xref: GARD:4153
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive osteopetrosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ostm1 osteoclastogenesis associated transmembrane protein 1 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 OMIM
ClinVar
PMID:12627228 PMID:16813530 PMID:28492532 PMID:28612835 NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      bone development disease 1760
        osteochondrodysplasia 605
          osteosclerosis 46
            osteopetrosis 25
              autosomal recessive osteopetrosis 5 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              osteochondrodysplasia 605
                osteosclerosis 46
                  osteopetrosis 25
                    autosomal recessive osteopetrosis 5 1
paths to the root