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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 7
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Accession:DOID:0110946 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 TNFRSF11A gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: OPTB7;   autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia;   autosomal recessive osteopetrosis type 7;   osteoclast-poor osteopetrosis with hypogammaglobulinemia;   osteopetrosis-hypogammaglobulinemia syndrome
 primary_id: MESH:C567354
 alt_id: OMIM:612301;   RDO:0015445
 xref: GARD:10106;   ORDO:178389
For additional species annotation, visit the Alliance of Genome Resources.

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autosomal recessive osteopetrosis 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfrsf11a TNF receptor superfamily member 11A ISO ClinVar Annotator: match by OMIM:612301
ClinVar Annotator: match by term: Osteopetrosis autosomal recessive 7
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 7		 OMIM
ClinVar		 PMID:15231021 PMID:18606301 PMID:19940926 PMID:28492532 NCBI chr13:25,778,306...25,835,802
Ensembl chr13:25,778,317...25,835,957 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      hematopoietic system disease 1652
        blood protein disease 291
          agammaglobulinemia 63
            autosomal recessive osteopetrosis 7 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone development disease 1317
              osteochondrodysplasia 446
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 7 1
paths to the root