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

ONTOLOGY REPORT - ANNOTATIONS


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       view all columns           Sort by:
 
autosomal dominant osteopetrosis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      bone development disease 994
        osteochondrodysplasia 408
          osteosclerosis 44
            osteopetrosis 27
              autosomal dominant osteopetrosis 1 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                osteosclerosis 44
                  osteopetrosis 27
                    autosomal dominant osteopetrosis 1 1
paths to the root

NHLBI Logo

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