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: End Stage Liver Disease
Accession: DOID:9007996
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Definition: Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed.
Synonyms: exact_synonym: Chronic Liver Failure; Chronic Liver Failures
primary_id: MESH:D058625 ; RDO:0007844
xref: EFO:1001311
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Abcb4
ATP-binding cassette, sub-family B member 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22022477
NCBI chr 5:8,943,614...9,009,226
Ensembl chr 5:8,943,717...9,009,231
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H2-Ab1
histocompatibility 2, class II antigen A, beta 1
susceptibility
ISO
associated with hepatitis C;DNA:polymorphism: :HLA-DQB1*03(human)
RGD
PMID:11302974
RGD:36174014
NCBI chr17:34,482,201...34,488,392
Ensembl chr17:34,476,663...34,488,393
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H2-Eb1
histocompatibility 2, class II antigen E beta
susceptibility
ISO
associated with hepatitis C;DNA:polymorphism: : HLA-DRB1*11(human)
RGD
PMID:11302974
RGD:36174014
NCBI chr17:34,524,841...34,535,648
Ensembl chr17:34,524,841...34,535,648
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Ifnl2
interferon lambda 2
treatment
ISO
DNA:SNPs:5'utr: (rs12979860, rs8099917) (human)
RGD
PMID:25130512
RGD:40400912
NCBI chr 7:28,208,209...28,209,957
Ensembl chr 7:28,208,261...28,209,880
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Lep
leptin
IEP
protein:decreased expression:serum (human)
RGD
PMID:9640405
RGD:25330350
NCBI chr 6:29,060,220...29,073,875
Ensembl chr 6:29,060,219...29,073,876
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Maoa
monoamine oxidase A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15025246
NCBI chr X:16,485,937...16,554,051
Ensembl chr X:16,485,937...16,554,057
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Nos1
nitric oxide synthase 1, neuronal
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15025246
NCBI chr 5:118,004,904...118,096,905
Ensembl chr 5:117,919,097...118,096,905
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Tnfrsf1a
tumor necrosis factor receptor superfamily, member 1a
treatment
ISO
RGD
PMID:23874752
RGD:8661754
NCBI chr 6:125,326,686...125,339,446
Ensembl chr 6:125,326,325...125,339,447
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Tspo
translocator protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15025246
NCBI chr15:83,447,774...83,458,404
Ensembl chr15:83,447,793...83,458,404
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