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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;   Osteopetrosis, Infantile Malignant 3
 primary_id: MESH:C566883
 alt_id: OMIM:259720;   RDO:0015099
 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 OMIM:259720
ClinVar Annotator: match by term: Osteopetrosis, autosomal recessive 5
OMIM
ClinVar
PMID:12627228 PMID:16813530 PMID:28492532 PMID:28612835 NCBI chr20:47,394,979...47,430,304
Ensembl chr20:47,395,014...47,430,284
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      bone development disease 1312
        osteochondrodysplasia 446
          osteosclerosis 42
            osteopetrosis 26
              autosomal recessive osteopetrosis 5 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              osteochondrodysplasia 446
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 5 1
paths to the root