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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 8
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Accession:DOID:0110940 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)
Synonyms:exact_synonym: OPTB8;   SNX10-RELATED CONDITION
 xref: MIM:615085;   MONDO:0014040;   NCI:C150556


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autosomal recessive osteopetrosis 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snx10 sorting nexin 10 ISO
ISS 		OMIM:615085
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 8 | ClinVar Annotator: match by term: SNX10-related condition 		OMIM
MouseDO
ClinVar		 PMID:22499339 PMID:23123320 PMID:23280965 PMID:25212774 PMID:25590979 More... NCBI chr 4:81,943,262...82,007,667
Ensembl chr 4:81,943,287...82,007,651 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          monogenic disease 4758
            autosomal genetic disease 4325
              autosomal recessive disease 2991
                autosomal recessive osteopetrosis 8 1
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      musculoskeletal system disease 4517
        connective tissue disease 3414
          bone disease 2876
            bone remodeling disease 461
              osteosclerosis 51
                osteopetrosis 29
                  autosomal recessive osteopetrosis 8 1
paths to the root