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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:611490
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 4 | ClinVar Annotator: match by term: Osteopetrosis infantile malignant 2		 OMIM
CTD
MouseDO
ClinVar		 PMID:1516225 PMID:11207362 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 18969
    Developmental Disease 14401
      bone development disease 2307
        osteochondrodysplasia 861
          osteosclerosis 59
            osteopetrosis 29
              autosomal recessive osteopetrosis 4 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteosclerosis 59
                  osteopetrosis 29
                    autosomal recessive osteopetrosis 4 1
paths to the root