Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP 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 dominant osteopetrosis 1
go back to main search page
Accession:DOID:0110937 term browser browse the term
Definition:An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: OPTA1;   autosomal dominant osteopetrosis type 1;   autosomal dominant osteopetrosis, type I
 primary_id: MESH:C536056
 alt_id: OMIM:607634;   RDO:0001472
 xref: ORDO:2783
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by OMIM:607634
ClinVar Annotator: match by term: Autosomal dominant osteopetrosis 1
OMIM
ClinVar
PMID:10434540 PMID:11741193 PMID:12015390 PMID:12579474 PMID:25741868 PMID:28492532 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    Developmental Diseases 9597
      bone development disease 1312
        osteochondrodysplasia 446
          osteosclerosis 42
            osteopetrosis 26
              autosomal dominant osteopetrosis 1 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      musculoskeletal system disease 5283
        connective tissue disease 3626
          bone disease 2987
            bone development disease 1312
              osteochondrodysplasia 446
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal dominant osteopetrosis 1 1
paths to the root