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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;   RDO:0001472
 xref: 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 OMIM
ClinVar
PMID:10434540, PMID:11741193, PMID:12015390, PMID:12579474 NCBI chr 1:218,816,833...218,920,147
Ensembl chr 1:218,816,841...218,920,094
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          osteosclerosis 44
            osteopetrosis 26
              autosomal dominant osteopetrosis 1 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              osteochondrodysplasia 445
                osteosclerosis 44
                  osteopetrosis 26
                    autosomal dominant osteopetrosis 1 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.