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: hepatic veno-occlusive disease
Accession: DOID:0080177
browse the term
Definition: A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. (DO)
Synonyms: exact_synonym: hepatic veno-occlusive diseases; sinusoidal obstruction syndrome
primary_id: MESH:D006504
xref: GARD:13004 ; ICD10CM:K76.5
For additional species annotation, visit the
Alliance of Genome Resources .
G
Adamts13
ADAM metallopeptidase with thrombospondin type 1 motif, 13
ISO
protein:decreased activity:plasma (human)
RGD
PMID:12040478
RGD:10449042
NCBI chr 3:10,299,264...10,338,464
Ensembl chr 3:10,300,028...10,346,687
G
Asip
agouti signaling protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:32937126
NCBI chr 3:143,473,584...143,561,170
Ensembl chr 3:143,555,696...143,561,171
G
Csf3
colony stimulating factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8602625
NCBI chr10:83,660,787...83,664,569
Ensembl chr10:83,661,207...83,663,603
G
Gstm1
glutathione S-transferase mu 1
susceptibility
ISO
associated with Beta-Thalassemia;
RGD
PMID:15142875
RGD:10450877
NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411
G
Hfe
homeostatic iron regulator
susceptibility
ISO
DNA:missense mutation:cds:p.C282Y (human)
RGD
PMID:15834437
RGD:8694354
NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
G
Hmox1
heme oxygenase 1
IDA
RGD
PMID:19387321
RGD:4145318
NCBI chr19:13,466,287...13,474,082
Ensembl chr19:13,467,244...13,474,079
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Mmp9
matrix metallopeptidase 9
IEP
protein:increased expression:blood, liver, lung
RGD
PMID:23303633
RGD:13204885
NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
G
Mthfr
methylenetetrahydrofolate reductase
susceptibility
ISO
DNA:SNPs: :DNA:SNPs: :677C>T, 1298A>C(human)
RGD
PMID:24583625
RGD:14696752
NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797
G
Ocln
occludin
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:17015055
NCBI chr 2:31,657,217...31,707,466
Ensembl chr 2:31,657,220...31,764,150
G
Thbs1
thrombospondin 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:35357534
NCBI chr 3:105,056,286...105,071,445
Ensembl chr 3:105,056,292...105,071,440
G
Sp110
SP110 nuclear body protein
ISO
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
OMIM ClinVar
PMID:9536098 PMID:16648851 PMID:16803959 PMID:16816019 PMID:17149599 PMID:17576681 PMID:19780822 PMID:20301448 PMID:21536091 PMID:22621957 PMID:23448538 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670
G
Sp140
SP140 nuclear body protein
ISO
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar
PMID:9536098 PMID:16648851 PMID:16803959 PMID:17576681 PMID:19780822 PMID:20301448 PMID:21536091 PMID:22621957 PMID:23448538 PMID:24033266 PMID:25741868 PMID:28492532 More...
NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542
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