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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 the SP110 gene 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


show annotations for term's descendants           Sort by:
hepatic venoocclusive disease with immunodeficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp110 SP110 nuclear body protein susceptibility ISO ClinVar Annotator: match by term: Hepatic veno-occlusive disease-immunodeficiency syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16648851 PMID:16803959 PMID:16816019 PMID:17149599 More... NCBI chr 9:86,200,503...86,225,355
Ensembl chr 9:86,200,503...86,222,670 		JBrowse link
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:17510920 PMID:17576681 More... NCBI chr 9:86,224,472...86,274,724
Ensembl chr 9:86,224,513...86,274,542 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21112
    syndrome 10710
      primary immunodeficiency disease 4124
        hepatic venoocclusive disease with immunodeficiency 2
Path 2
Term Annotations click to browse term
  disease 21112
    Developmental Disease 18434
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18288
        genetic disease 18231
          monogenic disease 10212
            autosomal genetic disease 9354
              autosomal recessive disease 6380
                hepatic venoocclusive disease with immunodeficiency 2
paths to the root