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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:hepatic venoocclusive disease with immunodeficiency
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Accession:DOID:0112254 term browser browse the term
Definition:A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in SP110 on chromosome 2q37.1. (DO)
Synonyms:exact_synonym: Familial Veno-Occlusive Disease with Immunodeficiency;   Hepatic Veno-Occlusive Disease with Immunodeficiency;   VODI;   Veno-Occlusive Disease and Immunodeficiency Syndrome;   hepatic veno-occlusive disease-immunodeficiency syndrome
 primary_id: MESH:C537257
 alt_id: DOID:9008664;   OMIM:235550
 xref: GARD:10083;   ORDO:79124
For additional species annotation, visit the Alliance of Genome Resources.


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hepatic venoocclusive disease with immunodeficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp110 SP110 nuclear body protein ISO ClinVar Annotator: match by OMIM:235550
ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
OMIM
ClinVar
PMID:9536098 PMID:16648851 PMID:16803959 PMID:17576681 PMID:19780822 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:92,593,909...92,618,867
Ensembl chr 9:92,593,910...92,616,165
JBrowse link
G Sp140 SP140 nuclear body protein ISO ClinVar Annotator: match by term: Hepatic venoocclusive disease with immunodeficiency
ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
ClinVar Annotator: match by term: Hepatic Veno-occlusive Disease with Immunodeficiency
ClinVar PMID:9536098 PMID:16648851 PMID:16803959 PMID:17576681 PMID:21536091 PMID:22621957 PMID:24033266 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr 9:92,618,088...92,665,431
Ensembl chr 9:92,618,352...92,665,430
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    syndrome 8018
      primary immunodeficiency disease 2694
        hepatic venoocclusive disease with immunodeficiency 2
Path 2
Term Annotations click to browse term
  disease 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          monogenic disease 7121
            autosomal genetic disease 6276
              autosomal recessive disease 3443
                hepatic venoocclusive disease with immunodeficiency 2
paths to the root