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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 6
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Accession:DOID:0110945 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: OPTB6;   Osteopetrosis, Autosomal Recessive, Intermediate Form
 xref: GARD:4156;   MESH:C566931;   MIM:611497;   MONDO:0012679


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autosomal recessive osteopetrosis 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhm1 pleckstrin homology and RUN domain containing M1 ISO
ISS 		ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 6
CTD Direct Evidence: marker/mechanism
OMIM:611497 		OMIM
ClinVar
CTD
MouseDO		 PMID:17404618 PMID:25741868 NCBI chr10:88,814,699...88,876,570
Ensembl chr10:88,814,699...88,862,544 		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 6 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 6 1
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