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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:Noncirrhotic Portal Hypertension 1
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Accession:DOID:9001065 term browser browse the term
Definition:An autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Caused by homozygous mutation in the DGUOK gene on chromosome 2p13. (OMIM)
Synonyms:exact_synonym: NCPH1
 primary_id: OMIM:617068


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Noncirrhotic Portal Hypertension 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO ClinVar Annotator: match by term: Portal hypertension, noncirrhotic, 1 ClinVar PMID:11983456 PMID:17073823 PMID:17452231 PMID:18205204 PMID:23043144 More... NCBI chr 6:83,457,199...83,483,887
Ensembl chr 6:83,457,199...83,483,951 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      cardiovascular system disease 4563
        vascular disease 3238
          hepatic vascular disease 71
            portal hypertension 55
              Noncirrhotic Portal Hypertension 1 1
Path 2
Term Annotations click to browse term
  disease 18302
    disease of anatomical entity 15634
      gastrointestinal system disease 6748
        hepatobiliary disease 3054
          liver disease 2940
            hepatic vascular disease 71
              portal hypertension 55
                Noncirrhotic Portal Hypertension 1 1
paths to the root