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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 8
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Accession:DOID:0110940 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: OPTB8
 primary_id: OMIM:615085
 xref: NCI:C150556
For additional species annotation, visit the Alliance of Genome Resources.



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autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 OMIM
ClinVar
PMID:22499339 PMID:23123320 PMID:25741868 PMID:28492532 NCBI chr 4:80,612,648...80,677,005
Ensembl chr 4:80,612,669...80,676,996
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      bone development disease 1875
        osteochondrodysplasia 614
          osteosclerosis 47
            osteopetrosis 26
              autosomal recessive osteopetrosis 8 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                osteosclerosis 47
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 8 1
paths to the root