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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 recessive osteopetrosis 2
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Accession:DOID:0110943 term browser browse the term
Definition:An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. (DO)
Synonyms:exact_synonym: Mild autosomal recessive form of osteopetrosis;   OPTB2;   OSTEOPETROSIS, OSTEOCLAST-POOR;   mild autosomal recessive form osteopetrosis
 primary_id: MESH:C536059;   OMIM:259710
 alt_id: RDO:0001476;   RDO:0008434
 xref: GARD:4157
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal recessive osteopetrosis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tnfsf11 TNF superfamily member 11 ISO ClinVar Annotator: match by OMIM:259710
ClinVar Annotator: match by term: Autosomal recessive osteopetrosis 2
OMIM
ClinVar
PMID:17632511 PMID:20499338 PMID:21541994 PMID:28492532 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16122
    Developmental Diseases 9597
      bone development disease 1317
        osteochondrodysplasia 446
          osteosclerosis 42
            osteopetrosis 26
              autosomal recessive osteopetrosis 2 1
Path 2
Term Annotations click to browse term
  disease 16122
    disease of anatomical entity 15369
      musculoskeletal system disease 5288
        connective tissue disease 3631
          bone disease 2988
            bone development disease 1317
              osteochondrodysplasia 446
                osteosclerosis 42
                  osteopetrosis 26
                    autosomal recessive osteopetrosis 2 1
paths to the root