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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 1
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Accession:DOID:0110942 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 TCIRG1 gene on chromosome 11q13.2. (DO)
Synonyms:exact_synonym: Albers-Schonberg Disease, Autosomal Recessive;   Marble Bones, Autosomal Recessive;   OPTB1;   infantile malignant osteopetrosis 1
 primary_id: MESH:C564915
 alt_id: OMIM:259700
 xref: GARD:2579;   NCI:C167215
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc154 coiled-coil domain containing 154 ISS OMIM:259700 MouseDO NCBI chr10:14,177,271...14,187,378
Ensembl chr10:14,177,278...14,187,253 		JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO DNA:deletions, snps:exons:multiple (human)
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 1		 ClinVar
OMIM
RGD		 PMID:9506970 PMID:9536098 PMID:10888887 PMID:10942435 PMID:11532986 More... RGD:1599350 NCBI chr 1:201,127,034...201,138,787
Ensembl chr 1:201,127,034...201,138,742 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    Developmental Disease 12742
      bone development disease 1760
        osteochondrodysplasia 605
          osteosclerosis 46
            osteopetrosis 25
              autosomal recessive osteopetrosis 1 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      musculoskeletal system disease 7137
        connective tissue disease 4900
          bone disease 3578
            bone development disease 1760
              osteochondrodysplasia 605
                osteosclerosis 46
                  osteopetrosis 25
                    autosomal recessive osteopetrosis 1 2
paths to the root