{"_id":"MONDO:0010179","_version":1,"ctd":{"chemical_related_to_disease":[{"chemical_name":"Carnitine","direct_evidence":"therapeutic","mesh_chemical_id":"D002331","pubmed":"29800642","source":"CTD"},{"cas_registry_number":"335-67-1","chemical_name":"perfluorooctanoic acid","direct_evidence":"marker/mechanism","mesh_chemical_id":"C023036","pubmed":"29800642","source":"CTD"}],"mesh":"C535682","pathway_related_to_disease":[{"inference_gene_symbol":"BMP2","kegg_pathway_id":"hsa04060","pathway_name":"Cytokine-cytokine receptor interaction","source":"CTD"},{"inference_gene_symbol":"BMP2","kegg_pathway_id":"hsa04350","pathway_name":"TGF-beta signaling pathway","source":"CTD"},{"inference_gene_symbol":"BMP2","kegg_pathway_id":"hsa04390","pathway_name":"Hippo signaling pathway","source":"CTD"},{"inference_gene_symbol":"BMP2","kegg_pathway_id":"hsa05200","pathway_name":"Pathways in cancer","source":"CTD"},{"inference_gene_symbol":"BMP2","kegg_pathway_id":"hsa05217","pathway_name":"Basal cell carcinoma","source":"CTD"},{"inference_gene_symbol":"BMP2","kegg_pathway_id":"hsa_M00679","pathway_name":"BMP signaling","source":"CTD"},{"inference_gene_symbol":"BMP2","pathway_name":"Extracellular matrix organization","react_pathway_id":"R-HSA-1474244","source":"CTD"},{"inference_gene_symbol":"BMP2","pathway_name":"Elastic fibre formation","react_pathway_id":"R-HSA-1566948","source":"CTD"},{"inference_gene_symbol":"BMP2","pathway_name":"Signal Transduction","react_pathway_id":"R-HSA-162582","source":"CTD"},{"inference_gene_symbol":"BMP2","pathway_name":"Signaling by BMP","react_pathway_id":"R-HSA-201451","source":"CTD"},{"inference_gene_symbol":"BMP2","pathway_name":"Molecules associated with elastic fibres","react_pathway_id":"R-HSA-2129379","source":"CTD"}]},"hpo":[{"disease_name":"Right ventricular hypoplasia, isolated","inheritance":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0000007","hpo_name":"Autosomal recessive inheritance","omim_refs":"OMIM:277200","original_disease_id":"OMIM:277200"},"omim":"277200","phenotype_related_to_disease":{"biocuration":{"date":"2009-02-17","name":"HPO:iea"},"evidence":"IEA","hpo_id":"HP:0004762","omim_refs":"OMIM:277200","original_disease_id":"OMIM:277200"}},{"disease_name":"Isolated right ventricular hypoplasia","orphanet":"439","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0005180","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0012378","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0030718","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0031664","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001635","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0001640","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0005150","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010741","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0000961","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0001694","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0002094","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0012418","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001217","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001631","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001655","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001708","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011623","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0011712","orphanet_refs":"orphanet:439"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0012383","orphanet_refs":"orphanet:439"}]}],"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:0004995","MONDO:7770007","MONDO:0024239","MONDO:0021147","MONDO:7770008","MONDO:0019820","MONDO:7770006","MONDO:0019512","MONDO:0700096","MONDO:0020291","MONDO:0003847","MONDO:0002254"],"definition":"Isolated right ventricular hypoplasia (IRVH) is a rare congenital heart malformation characterized by underdevelopment of the right ventricle associated with patent foramen ovale or interauricular communication and normally developed tricuspid and pulmonary valves. IRVH manifests with severe cyanosis, congestive heart failure, and in severe cases, death in early infancy. [Orphanet:439]","label":"isolated right ventricular hypoplasia","mondo":"MONDO:0010179","parents":["MONDO:0003847","MONDO:0020291"],"synonym":{"related":["hypoplasia of the right ventricle","isolated hypoplasia of the right ventricle","right ventricle hypoplasia","right ventricular hypoplasia"]},"xrefs":{"gard":["0004721"],"medgen":["336377"],"mesh":["C535682"],"omim":["277200"],"orphanet":["439"],"sctid":["718135001"],"umls":["C1848587"]}},"original_id":"orphanet:439","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","mesh":{"non-preferred":"C535682","preferred":"C535682"},"snomed":{"non-preferred":"718135001"},"umls":"C1848587"}}