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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 dominant osteopetrosis 2
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Accession:DOID:0110938 term browser browse the term
Definition:An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: Albers-Schonberg osteopetrosis;   OPTA2;   autosomal dominant osteopetrosis type 2;   autosomal dominant osteopetrosis, type II
 broad_synonym: autosomal dominant Albers-Schonberg disease
 primary_id: MIM:166600
 xref: GARD:383;   ORDO:53


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autosomal dominant osteopetrosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcn7 chloride voltage-gated channel 7 ISO
ISS		 OMIM:166600
ClinVar Annotator: match by term: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2		 OMIM
MouseDO
ClinVar		 PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr10:14,151,758...14,177,130
Ensembl chr10:14,151,758...14,177,130 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      musculoskeletal system disease 8488
        bone disease 4411
          spinal disease 1146
            autosomal dominant osteopetrosis 2 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7807
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              osteochondrodysplasia 869
                osteosclerosis 59
                  osteopetrosis 29
                    autosomal dominant osteopetrosis 2 1
paths to the root