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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


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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: ALBERS-SCHONBERG DISEASE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 2 OMIM
ClinVar
PMID:1516225 PMID:9536098 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chrNW_004936694:2,444,321...2,467,734
Ensembl chrNW_004936694:2,444,343...2,467,733
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      musculoskeletal system disease 7354
        bone disease 3646
          spinal disease 1025
            autosomal dominant osteopetrosis 2 1
Path 2
Term Annotations click to browse term
  disease 16465
    disease of anatomical entity 14107
      Skin and Connective Tissue Diseases 6424
        connective tissue disease 4982
          bone disease 3646
            bone development disease 2158
              osteochondrodysplasia 827
                osteosclerosis 52
                  osteopetrosis 24
                    autosomal dominant osteopetrosis 2 1
paths to the root