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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 dominant osteopetrosis 1
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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
 xref: GARD:4151;   ORDO:2783
For additional species annotation, visit the Alliance of Genome Resources.



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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:1002767 PMID:10434540 PMID:11701785 PMID:11741193 PMID:12015390 More... NCBI chr 1:200,814,247...200,917,581
Ensembl chr 1:200,814,250...200,917,581
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      bone development disease 1425
        osteochondrodysplasia 478
          osteosclerosis 43
            osteopetrosis 26
              autosomal dominant osteopetrosis 1 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              osteochondrodysplasia 478
                osteosclerosis 43
                  osteopetrosis 26
                    autosomal dominant osteopetrosis 1 1
paths to the root