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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: OMIM:166600
 xref: GARD:383;   ORDO:53
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by term: Osteopetrosis autosomal dominant type 2
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2
OMIM
ClinVar
PMID:1516225 PMID:11468688 PMID:11741829 PMID:14584882 PMID:21527911 PMID:23296056 PMID:23983121 PMID:25741868 PMID:26365571 NCBI chr10:14,492,844...14,518,167
Ensembl chr10:14,492,844...14,516,894
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        bone disease 3507
          spinal disease 1449
            autosomal dominant osteopetrosis 2 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Skin and Connective Tissue Diseases 5431
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal dominant osteopetrosis 2 1
paths to the root