Human Phenotype Ontology 
Grandparent Node:
expandAbnormal vascular physiology (HP:0030163)help
Parent Node:
expandAbnormality of venous physiology (HP:0030846)help
..Starting node
..expandBudd-Chiari syndrome (HP:0002639)help
Term ID: 2639
Name: Budd-Chiari syndrome
Synonym:
Definition: Budd-Chiari syndrome (BCS) is caused by obstruction of hepatic venous outflow at any level from the small hepatic veins to the junction of the inferior vena cava (IVC) with the right atrium, 1 and occurs in 1/100,000 of the general population worldwide. The most common presentation is with ascites, but can range from fulminant hepatic failure (FHF) to asymptomatic forms. Obstruction of hepatic venous outflow is mainly caused by primary intravascular thrombosis, which can occur suddenly or be repeated over time, accompanied by some revascularization, accounting for the variable parenchymal hepatic damage and histologic presentation. Budd-Chiari syndrome is thus a disease, but since it occurs as a manifestation of several other diseases, this term is kept for the present for convenience.
Comments:
Reference: HP:0002639
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal jugular venous pressure (HP:0030847) help
..expandAbnormal vena cava physiology (HP:0030970) help
..expandVenous occlusion (HP:0025322) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002639HP:0002639Budd-Chiari syndrome0CD55 CL E G H16042665OMIM:226300Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy.9
HP:0002639HP:0002639Budd-Chiari syndrome0F5 CL E G H21533542OMIM:600880Budd-Chiari syndrome.159
HP:0002639HP:0002639Budd-Chiari syndrome0JAK2 CL E G H37176192OMIM:600880Budd-Chiari syndrome.57
HP:0002639HP:0002639Budd-Chiari syndrome0JAK2 CL E G H37176192ORPHA:729Polycythemia veraHP:0040283 - Occasional57
HP:0002639HP:0002639Budd-Chiari syndrome0JAK2 CL E G H37176192OMIM:263300Polycythemia vera.57
HP:0002639HP:0002639Budd-Chiari syndrome0MPL CL E G H43527217ORPHA:729Polycythemia veraHP:0040283 - Occasional97
HP:0002639HP:0002639Budd-Chiari syndrome0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0002639HP:0002639Budd-Chiari syndrome0TET2 CL E G H5479025941ORPHA:729Polycythemia veraHP:0040283 - Occasional3


Genes (6) :CD55 F5 JAK2 MPL PIGA TET2

Diseases (5) :OMIM:226300 OMIM:600880 ORPHA:729 OMIM:263300 ORPHA:447
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.