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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:Dent Disease 2
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Accession:DOID:9007045 term browser browse the term
Synonyms:exact_synonym: DENT2;   dent disease type 2
 primary_id: MESH:C564487
 alt_id: OMIM:300555



show annotations for term's descendants           Sort by:
Dent Disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Inpp5b inositol polyphosphate-5-phosphatase B ISO ClinVar Annotator: match by term: Dent disease type 2 ClinVar PMID:28018608 NCBI chr 5:136,996,766...137,061,315
Ensembl chr 5:136,996,686...137,061,315
JBrowse link
G Ocrl OCRL, inositol polyphosphate-5-phosphatase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Dent disease type 2
OMIM
CTD
ClinVar
PMID:1321346 PMID:8504307 PMID:15627218 PMID:16381338 PMID:17162149 More... NCBI chr  X:127,089,508...127,140,362
Ensembl chr  X:127,089,590...127,140,362
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    Nutritional and Metabolic Diseases 8225
      disease of metabolism 8225
        inherited metabolic disorder 6206
          renal tubular transport disease 133
            Dent disease 6
              Dent Disease 2 2
Path 2
Term Annotations click to browse term
  disease 21120
    Developmental Disease 18439
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18300
        genetic disease 18244
          monogenic disease 10306
            X-linked monogenic disease 1358
              X-linked recessive disease 578
                Dent disease 6
                  Dent Disease 2 2
paths to the root