{
    "disease_id": "DOID:0081269",
    "recommended_name": {
        "id": "DOID:0081269",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081269",
        "name": "pulmonary venoocclusive disease 2",
        "description": "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation."
    },
    "synonyms": [
        {
            "id": "DOID:0081269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081269",
            "name": "FAMILIAL PULMONARY CAPILLARY HEMANGIOMATOSIS",
            "description": ""
        },
        {
            "id": "MONDO:0009329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009329",
            "name": "pulmonary venoocclusive disease 2",
            "description": "A rare form of pulmonary arterial hypertension (PAH) characterized by a capillary infiltration of the pulmonary interstitium, bronchioles and pleura leading to elevated pulmonary arterial resistance and right heart failure. PCH is potentially fatal."
        },
        {
            "id": "MONDO:0009329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009329",
            "name": "pulmonary capillary hemangiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0009329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009329",
            "name": "PVOD2",
            "description": ""
        },
        {
            "id": "MONDO:0009329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009329",
            "name": "familial pulmonary capillary hemangiomatosis",
            "description": ""
        },
        {
            "id": "MONDO:0009329",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009329",
            "name": "pulmonary venoocclusive disease 2, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:234810",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/234810",
            "name": "Pulmonary venoocclusive disease 2, autosomal recessive",
            "description": "Pulmonary venoocclusive disease 2, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081269"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081269",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081269",
            "categories": []
        },
        {
            "id": "MONDO:0009329",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009329",
            "categories": []
        },
        {
            "id": "MIM:234810",
            "database": "MIM",
            "url": "https://www.omim.org/entry/234810",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9QZ05-1",
            "uniprot_ac": "Q9QZ05",
            "uniprot_id": "E2AK4_MOUSE",
            "refseq_ac": "NP_001171277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "eIF-2-alpha kinase GCN2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "GCN2 eIF2alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "GCN2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2-alpha kinase GCN2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2-alpha kinase GCN2",
                    "type": "synonym"
                },
                {
                    "name": "mGCN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2ak4",
                    "type": "recommended"
                },
                {
                    "name": "2610011M03",
                    "type": "synonym"
                },
                {
                    "name": "Eif2ak4",
                    "type": "synonym"
                },
                {
                    "name": "GCN2",
                    "type": "synonym"
                },
                {
                    "name": "Gcn2",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1338",
                    "type": "synonym"
                },
                {
                    "name": "MGCN2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QZ05-1",
            "evidence": [
                {
                    "id": "0081269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2K8-1",
            "uniprot_ac": "Q9P2K8",
            "uniprot_id": "E2AK4_HUMAN",
            "refseq_ac": "NP_001013725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "eIF-2-alpha kinase GCN2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "GCN2 eIF2alpha kinase",
                    "type": "synonym"
                },
                {
                    "name": "GCN2-like protein",
                    "type": "synonym"
                },
                {
                    "name": "eIF-2-alpha kinase GCN2",
                    "type": "synonym"
                },
                {
                    "name": "general control nonderepressible 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EIF2AK4",
                    "type": "recommended"
                },
                {
                    "name": "EIF2AK4",
                    "type": "synonym"
                },
                {
                    "name": "GCN2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1338",
                    "type": "synonym"
                },
                {
                    "name": "PVOD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2K8-1",
            "evidence": [
                {
                    "id": "234810",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/234810"
                },
                {
                    "id": "0081269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15442-1",
            "uniprot_ac": "P15442",
            "uniprot_id": "GCN2_YEAST",
            "refseq_ac": "NP_010569",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "eIF-2-alpha kinase GCN2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "General control non-derepressible protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase GCN2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase GCN2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCN2",
                    "type": "recommended"
                },
                {
                    "name": "AAS102",
                    "type": "synonym"
                },
                {
                    "name": "AAS1",
                    "type": "synonym"
                },
                {
                    "name": "GCN2",
                    "type": "synonym"
                },
                {
                    "name": "NDR2",
                    "type": "synonym"
                }
            ],
            "record_id": "P15442-1",
            "evidence": [
                {
                    "id": "0081269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A7V9-1",
            "uniprot_ac": "D4A7V9",
            "uniprot_id": "E2AK4_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "eIF-2-alpha kinase GCN2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Eukaryotic translation initiation factor 2-alpha kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "GCN2-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eif2ak4",
                    "type": "recommended"
                },
                {
                    "name": "Gcn2",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A7V9-1",
            "evidence": [
                {
                    "id": "0081269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KHX7-1",
            "uniprot_ac": "A0A0B4KHX7",
            "uniprot_id": "A0A0B4KHX7_DROME",
            "refseq_ac": "NP_001263142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG1609-PC",
                    "type": "synonym"
                },
                {
                    "name": "GC nonderepressing 2 kinase",
                    "type": "synonym"
                },
                {
                    "name": "Gcn2, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Gcn2-PC",
                    "type": "synonym"
                },
                {
                    "name": "general control nonderepressible 2",
                    "type": "synonym"
                },
                {
                    "name": "general control nonderepressing 2 kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gcn2",
                    "type": "recommended"
                },
                {
                    "name": "CG1609",
                    "type": "synonym"
                },
                {
                    "name": "DGCN2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1609",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1609",
                    "type": "synonym"
                },
                {
                    "name": "GCN-2",
                    "type": "synonym"
                },
                {
                    "name": "GCN2",
                    "type": "synonym"
                },
                {
                    "name": "Gcn-2",
                    "type": "synonym"
                },
                {
                    "name": "Gcn2",
                    "type": "synonym"
                },
                {
                    "name": "dGCN2",
                    "type": "synonym"
                },
                {
                    "name": "dGcn2",
                    "type": "synonym"
                },
                {
                    "name": "gcn2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KHX7-1",
            "evidence": [
                {
                    "id": "0081269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081269"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081269"
}