{
    "disease_id": "DOID:0081268",
    "recommended_name": {
        "id": "DOID:0081268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081268",
        "name": "pulmonary venoocclusive disease 1",
        "description": "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33."
    },
    "synonyms": [
        {
            "id": "MONDO:0020713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020713",
            "name": "pulmonary venoocclusive disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0020713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020713",
            "name": "PVOD1",
            "description": ""
        },
        {
            "id": "MONDO:0020713",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020713",
            "name": "pulmonary venoocclusive disease 1, autosomal dominant",
            "description": ""
        },
        {
            "id": "MIM:265450",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/265450",
            "name": "Pulmonary venoocclusive disease 1, autosomal dominant",
            "description": "Pulmonary venoocclusive disease 1, autosomal dominant"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081268"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081268",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081268",
            "categories": []
        },
        {
            "id": "MONDO:0020713",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020713",
            "categories": []
        },
        {
            "id": "MIM:265450",
            "database": "MIM",
            "url": "https://www.omim.org/entry/265450",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BD77-1",
            "uniprot_ac": "A0A8M2BD77",
            "uniprot_id": "A0A8M2BD77_DANRE",
            "refseq_ac": "XP_005165892",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-2a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmpr2a",
                    "type": "recommended"
                },
                {
                    "name": "bmpr2a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BD77-1",
            "evidence": [
                {
                    "id": "0081268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35607-1",
            "uniprot_ac": "O35607",
            "uniprot_id": "BMPR2_MOUSE",
            "refseq_ac": "NP_031587",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "BMP type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-2",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-II",
                    "type": "synonym"
                },
                {
                    "name": "BRK-3",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type II (serine/threonine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein receptor, type II (serine/threonine kinase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr2",
                    "type": "recommended"
                },
                {
                    "name": "2610024H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-2",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-II",
                    "type": "synonym"
                },
                {
                    "name": "BMPRII",
                    "type": "synonym"
                },
                {
                    "name": "BRK-3",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr2",
                    "type": "synonym"
                },
                {
                    "name": "Gm20272",
                    "type": "synonym"
                }
            ],
            "record_id": "O35607-1",
            "evidence": [
                {
                    "id": "0081268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13873-1",
            "uniprot_ac": "Q13873",
            "uniprot_id": "BMPR2_HUMAN",
            "refseq_ac": "NP_001195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "BMP type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-2 receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-2",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-II",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type II (serine/threonine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "type II activin receptor-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "type II receptor for bone morphogenetic protein-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMPR2",
                    "type": "recommended"
                },
                {
                    "name": "BMPR-II",
                    "type": "synonym"
                },
                {
                    "name": "BMPR2",
                    "type": "synonym"
                },
                {
                    "name": "BMPR3",
                    "type": "synonym"
                },
                {
                    "name": "BMR2",
                    "type": "synonym"
                },
                {
                    "name": "BRK-3",
                    "type": "synonym"
                },
                {
                    "name": "POVD1",
                    "type": "synonym"
                },
                {
                    "name": "PPH1",
                    "type": "synonym"
                },
                {
                    "name": "T-ALK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13873-1",
            "evidence": [
                {
                    "id": "265450",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/265450"
                },
                {
                    "id": "0081268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AM39-1",
            "uniprot_ac": "A0A8I6AM39",
            "uniprot_id": "A0A8I6AM39_RAT",
            "refseq_ac": "NP_536332",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Bone morphogenetic protein receptor type-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type II (serine/threonine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenic protein receptor, type II (serine/threonine kinase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr2",
                    "type": "recommended"
                },
                {
                    "name": "Bmpr-II",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6AM39-1",
            "evidence": [
                {
                    "id": "0081268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PE88-1",
            "uniprot_ac": "M9PE88",
            "uniprot_id": "M9PE88_DROME",
            "refseq_ac": "NP_001261395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "receptor protein serine/threonine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "CG10776-PB",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine kinase-D",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein",
                    "type": "synonym"
                },
                {
                    "name": "wishful thinking, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "wishful thinking",
                    "type": "synonym"
                },
                {
                    "name": "wit-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wit",
                    "type": "recommended"
                },
                {
                    "name": "1262/15",
                    "type": "synonym"
                },
                {
                    "name": "15",
                    "type": "synonym"
                },
                {
                    "name": "ALK3/BMPRII",
                    "type": "synonym"
                },
                {
                    "name": "BMPRII",
                    "type": "synonym"
                },
                {
                    "name": "BMP",
                    "type": "synonym"
                },
                {
                    "name": "CG10776",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10776",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10776",
                    "type": "synonym"
                },
                {
                    "name": "SE20",
                    "type": "synonym"
                },
                {
                    "name": "STK-D",
                    "type": "synonym"
                },
                {
                    "name": "Stk-D",
                    "type": "synonym"
                },
                {
                    "name": "WIT",
                    "type": "synonym"
                },
                {
                    "name": "Wit-C",
                    "type": "synonym"
                },
                {
                    "name": "Wit",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64Aa",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S126215",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH12",
                    "type": "synonym"
                },
                {
                    "name": "wit",
                    "type": "synonym"
                },
                {
                    "name": "wiw",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PE88-1",
            "evidence": [
                {
                    "id": "0081268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081268"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081268"
}
