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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 4
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Accession:DOID:0110944 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. (DO)
Synonyms:exact_synonym: OPTB4;   infantile malignant osteopetrosis 2
 primary_id: MESH:C566933
 alt_id: OMIM:611490
 xref: GARD:5993


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autosomal recessive osteopetrosis 4 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: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2 OMIM
ClinVar		 PMID:1516225 PMID:11207362 PMID:11468688 PMID:11741829 PMID:14584882 More... NCBI chr 3:40,397,807...40,420,960
Ensembl chr 3:40,399,639...40,420,957 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      bone development disease 2248
        osteochondrodysplasia 851
          osteosclerosis 54
            osteopetrosis 24
              autosomal recessive osteopetrosis 4 1
Path 2
Term Annotations click to browse term
  disease 17415
    disease of anatomical entity 14875
      musculoskeletal system disease 7669
        connective tissue disease 5226
          bone disease 3783
            bone development disease 2248
              osteochondrodysplasia 851
                osteosclerosis 54
                  osteopetrosis 24
                    autosomal recessive osteopetrosis 4 1
paths to the root