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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 1
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Accession:DOID:0110937 term browser browse the term
Definition:An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: OPTA1;   autosomal dominant osteopetrosis type 1;   autosomal dominant osteopetrosis, type I
 primary_id: MESH:C536056
 alt_id: OMIM:607634
 xref: GARD:4151;   ORDO:2783


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autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcnkb chloride voltage-gated channel Kb ISO ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 ClinVar PMID:25741868 NCBI chr 5:153,710,086...153,733,162
Ensembl chr 5:153,710,094...153,732,153 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1 | ClinVar Annotator: match by term: OSTEOPETROSIS, AUTOSOMAL DOMINANT, TYPE I		 OMIM
CTD
ClinVar		 PMID:1002767 PMID:9536098 PMID:10434540 PMID:11701785 PMID:11719191 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      bone development disease 2304
        osteochondrodysplasia 860
          osteosclerosis 59
            osteopetrosis 29
              autosomal dominant osteopetrosis 1 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              osteochondrodysplasia 860
                osteosclerosis 59
                  osteopetrosis 29
                    autosomal dominant osteopetrosis 1 2
paths to the root