Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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
 primary_id: MESH:C566931
 alt_id: MIM:611497
 xref: GARD:4156



show annotations for term's descendants           Sort by:
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 chr10:88,313,837...88,366,182
Ensembl chr10:88,314,651...88,362,412
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19057
    Developmental Disease 14528
      bone development disease 2368
        osteochondrodysplasia 868
          osteosclerosis 59
            osteopetrosis 29
              autosomal recessive osteopetrosis 6 1
Path 2
Term Annotations click to browse term
  disease 19057
    disease of anatomical entity 18393
      musculoskeletal system disease 8479
        connective tissue disease 5949
          bone disease 4404
            bone development disease 2368
              osteochondrodysplasia 868
                osteosclerosis 59
                  osteopetrosis 29
                    autosomal recessive osteopetrosis 6 1
paths to the root