Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 xref: GARD:4153;   MESH:C566883;   MIM:259720;   MONDO:0009817



show annotations for term's descendants           Sort by:
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
ISS
CTD Direct Evidence: marker/mechanism
OMIM:259720
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 5 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 3
OMIM
CTD
MouseDO
ClinVar
PMID:12627228 PMID:16813530 PMID:25741868 PMID:28492532 PMID:28612835 More... NCBI chr20:46,071,657...46,187,049
Ensembl chr20:46,153,075...46,187,023
JBrowse link

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
              autosomal recessive osteopetrosis 5 1
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      musculoskeletal system disease 8480
        connective tissue disease 5949
          bone disease 4404
            bone development disease 2368
              osteochondrodysplasia 868
                osteosclerosis 59
                  osteopetrosis 29
                    autosomal recessive osteopetrosis 5 1
paths to the root