{
    "disease_id": "DOID:0111686",
    "recommended_name": {
        "id": "DOID:0111686",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111686",
        "name": "hereditary mixed polyposis syndrome 2",
        "description": "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111686",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111686",
            "name": "HMPS2",
            "description": ""
        },
        {
            "id": "MONDO:0012405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "name": "polyposis syndrome, hereditary mixed, 2",
            "description": "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene."
        },
        {
            "id": "MONDO:0012405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "name": "BMPR1A hereditary mixed polyposis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "name": "hereditary mixed polyposis syndrome caused by mutation in BMPR1A",
            "description": ""
        },
        {
            "id": "MONDO:0012405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "name": "polyposis syndrome, hereditary mixed, 2",
            "description": ""
        },
        {
            "id": "MONDO:0012405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "name": "polyposis syndrome, hereditary mixed, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012405",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "name": "HMPS2",
            "description": ""
        },
        {
            "id": "MIM:610069",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610069",
            "name": "Polyposis syndrome, mixed hereditary 2",
            "description": "Polyposis syndrome, mixed hereditary 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111686"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111686",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111686",
            "categories": []
        },
        {
            "id": "MONDO:0012405",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012405",
            "categories": []
        },
        {
            "id": "MIM:610069",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610069",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N2A7-1",
            "uniprot_ac": "A0A8M1N2A7",
            "uniprot_id": "A0A8M1N2A7_DANRE",
            "refseq_ac": "NP_001004585",
            "glycoprotein": "no",
            "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": "alk3b",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type 1ab",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IA,b",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IAb precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bmpr1ab",
                    "type": "recommended"
                },
                {
                    "name": "bmpr1ab",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe05b06",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe06e10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92227",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N2A7-1",
            "evidence": [
                {
                    "id": "0111686",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111686"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36895-1",
            "uniprot_ac": "P36895",
            "uniprot_id": "BMR1A_MOUSE",
            "refseq_ac": "NP_033888",
            "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-1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMP-2/BMP-4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1a",
                    "type": "recommended"
                },
                {
                    "name": "1110037I22Rik",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "ALK3",
                    "type": "synonym"
                },
                {
                    "name": "Acvrlk3",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-IA",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr1a",
                    "type": "synonym"
                },
                {
                    "name": "Bmpr",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                }
            ],
            "record_id": "P36895-1",
            "evidence": [
                {
                    "id": "0111686",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111686"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36894-1",
            "uniprot_ac": "P36894",
            "uniprot_id": "BMR1A_HUMAN",
            "refseq_ac": "NP_004320",
            "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-1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor, type II-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1A isoform 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IA",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase receptor R5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BMPR1A",
                    "type": "recommended"
                },
                {
                    "name": "10q23del",
                    "type": "synonym"
                },
                {
                    "name": "ACVRLK3",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "ALK3",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "BMPR1A",
                    "type": "synonym"
                },
                {
                    "name": "CD292",
                    "type": "synonym"
                },
                {
                    "name": "SKR5",
                    "type": "synonym"
                }
            ],
            "record_id": "P36894-1",
            "evidence": [
                {
                    "id": "610069",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610069"
                },
                {
                    "id": "0111686",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111686"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q78EA7-1",
            "uniprot_ac": "Q78EA7",
            "uniprot_id": "BMR1A_RAT",
            "refseq_ac": "NP_110476",
            "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-1A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ALK-3",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "BMP type-1A receptor",
                    "type": "synonym"
                },
                {
                    "name": "BMPR-1A",
                    "type": "synonym"
                },
                {
                    "name": "Bone morphogenetic protein 4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor-like kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein 4 receptor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor type-1A precursor",
                    "type": "synonym"
                },
                {
                    "name": "bone morphogenetic protein receptor, type IA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bmpr1a",
                    "type": "recommended"
                },
                {
                    "name": "Bmpr1a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q78EA7-1",
            "evidence": [
                {
                    "id": "0111686",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111686"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMT1-1",
            "uniprot_ac": "Q9VMT1",
            "uniprot_id": "Q9VMT1_DROME",
            "refseq_ac": "NP_787990",
            "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": "Activin-A-receptor-25D",
                    "type": "synonym"
                },
                {
                    "name": "BMP receptor kinase 25D",
                    "type": "synonym"
                },
                {
                    "name": "CG14026-PC",
                    "type": "synonym"
                },
                {
                    "name": "DPP receptor",
                    "type": "synonym"
                },
                {
                    "name": "Thick-veins",
                    "type": "synonym"
                },
                {
                    "name": "Thick-vein",
                    "type": "synonym"
                },
                {
                    "name": "slater",
                    "type": "synonym"
                },
                {
                    "name": "thick veins",
                    "type": "synonym"
                },
                {
                    "name": "thickveins, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "thickveins",
                    "type": "synonym"
                },
                {
                    "name": "thickvein",
                    "type": "synonym"
                },
                {
                    "name": "tkv-PC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tkv",
                    "type": "recommended"
                },
                {
                    "name": "Atkv",
                    "type": "synonym"
                },
                {
                    "name": "Atr25D",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D1",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D2",
                    "type": "synonym"
                },
                {
                    "name": "Brk25D",
                    "type": "synonym"
                },
                {
                    "name": "CG14026",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14026",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14026",
                    "type": "synonym"
                },
                {
                    "name": "Dtfr",
                    "type": "synonym"
                },
                {
                    "name": "STK-A",
                    "type": "synonym"
                },
                {
                    "name": "TKV1",
                    "type": "synonym"
                },
                {
                    "name": "TKV",
                    "type": "synonym"
                },
                {
                    "name": "TkvA",
                    "type": "synonym"
                },
                {
                    "name": "Tkv",
                    "type": "synonym"
                },
                {
                    "name": "dtfr",
                    "type": "synonym"
                },
                {
                    "name": "kv",
                    "type": "synonym"
                },
                {
                    "name": "l(2)04415",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Da",
                    "type": "synonym"
                },
                {
                    "name": "str",
                    "type": "synonym"
                },
                {
                    "name": "thv",
                    "type": "synonym"
                },
                {
                    "name": "tkv1",
                    "type": "synonym"
                },
                {
                    "name": "tkva",
                    "type": "synonym"
                },
                {
                    "name": "tkv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMT1-1",
            "evidence": [
                {
                    "id": "0111686",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111686"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111686"
}