{
    "disease_id": "DOID:0051019",
    "recommended_name": {
        "id": "DOID:0051019",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051019",
        "name": "visceral heterotaxy 4",
        "description": "A visceral heterotaxy that is has_material_basis_in heterozygous mutation in the ACVR2B gene on chromosome 3p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0013403",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013403",
            "name": "heterotaxy, visceral, 4, autosomal",
            "description": "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene."
        },
        {
            "id": "MONDO:0013403",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013403",
            "name": "ACVR2B visceral heterotaxy",
            "description": ""
        },
        {
            "id": "MONDO:0013403",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013403",
            "name": "heterotaxy, visceral, 4, autosomal",
            "description": ""
        },
        {
            "id": "MONDO:0013403",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013403",
            "name": "visceral heterotaxy caused by mutation in ACVR2B",
            "description": ""
        },
        {
            "id": "MONDO:0013403",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013403",
            "name": "HTX4",
            "description": ""
        },
        {
            "id": "MIM:613751",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613751",
            "name": "Heterotaxy, visceral, 4, autosomal",
            "description": "Heterotaxy, visceral, 4, autosomal"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051019"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051019",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051019",
            "categories": []
        },
        {
            "id": "MONDO:0013403",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013403",
            "categories": []
        },
        {
            "id": "MIM:613751",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613751",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P27040-1",
            "uniprot_ac": "P27040",
            "uniprot_id": "AVR2B_MOUSE",
            "refseq_ac": "NP_001300686",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activin receptor type-2B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ACTR-IIB",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acvr2b",
                    "type": "recommended"
                },
                {
                    "name": "4930516B21Rik",
                    "type": "synonym"
                },
                {
                    "name": "AI047905",
                    "type": "synonym"
                },
                {
                    "name": "ActRIIB",
                    "type": "synonym"
                },
                {
                    "name": "Acvr2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P27040-1",
            "evidence": [
                {
                    "id": "0051019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13705-1",
            "uniprot_ac": "Q13705",
            "uniprot_id": "AVR2B_HUMAN",
            "refseq_ac": "NP_001097",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activin receptor type-2B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ACTR-IIB",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor, type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B precursor",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACVR2B",
                    "type": "recommended"
                },
                {
                    "name": "ACTRIIB",
                    "type": "synonym"
                },
                {
                    "name": "ACVR2B",
                    "type": "synonym"
                },
                {
                    "name": "ActR-IIB",
                    "type": "synonym"
                },
                {
                    "name": "HTX4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13705-1",
            "evidence": [
                {
                    "id": "613751",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613751"
                },
                {
                    "id": "0051019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38445-1",
            "uniprot_ac": "P38445",
            "uniprot_id": "AVR2B_RAT",
            "refseq_ac": "NP_113742",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Activin receptor type-2B",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "ACTR-IIB",
                    "type": "synonym"
                },
                {
                    "name": "ActRIIB type II activin receptor B",
                    "type": "synonym"
                },
                {
                    "name": "Activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "Activine receptor 2b (transmembrane serine kinase)",
                    "type": "synonym"
                },
                {
                    "name": "activin A receptor, type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type IIB",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B precursor",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type-2B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Acvr2b",
                    "type": "recommended"
                },
                {
                    "name": "Actriib",
                    "type": "synonym"
                },
                {
                    "name": "Acvr2b",
                    "type": "synonym"
                }
            ],
            "record_id": "P38445-1",
            "evidence": [
                {
                    "id": "0051019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051019"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24468-1",
            "uniprot_ac": "Q24468",
            "uniprot_id": "AVR2_DROME",
            "refseq_ac": "NP_001262575",
            "glycoprotein": "yes",
            "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 put",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.30",
                    "type": "synonym"
                },
                {
                    "name": "Activin type II receptor",
                    "type": "synonym"
                },
                {
                    "name": "Activin-A-receptor-88CD",
                    "type": "synonym"
                },
                {
                    "name": "CG7904-PB",
                    "type": "synonym"
                },
                {
                    "name": "DPP receptor",
                    "type": "synonym"
                },
                {
                    "name": "Protein punt",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta-type-receptor-like",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor type II",
                    "type": "synonym"
                },
                {
                    "name": "activin receptor",
                    "type": "synonym"
                },
                {
                    "name": "dorsal holes C",
                    "type": "synonym"
                },
                {
                    "name": "punt, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "punt",
                    "type": "synonym"
                },
                {
                    "name": "put-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "put",
                    "type": "recommended"
                },
                {
                    "name": "Act-r",
                    "type": "synonym"
                },
                {
                    "name": "Atr-II",
                    "type": "synonym"
                },
                {
                    "name": "Atr88CD",
                    "type": "synonym"
                },
                {
                    "name": "AtrII",
                    "type": "synonym"
                },
                {
                    "name": "Atr",
                    "type": "synonym"
                },
                {
                    "name": "CG7904",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7904",
                    "type": "synonym"
                },
                {
                    "name": "PUNT",
                    "type": "synonym"
                },
                {
                    "name": "Punt",
                    "type": "synonym"
                },
                {
                    "name": "Put",
                    "type": "synonym"
                },
                {
                    "name": "STK-C",
                    "type": "synonym"
                },
                {
                    "name": "TGF-B",
                    "type": "synonym"
                },
                {
                    "name": "TGF-beta",
                    "type": "synonym"
                },
                {
                    "name": "Tgf-r",
                    "type": "synonym"
                },
                {
                    "name": "atrII",
                    "type": "synonym"
                },
                {
                    "name": "dlhC",
                    "type": "synonym"
                },
                {
                    "name": "l(3)10460",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j5A5",
                    "type": "synonym"
                },
                {
                    "name": "pun",
                    "type": "synonym"
                },
                {
                    "name": "put",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24468-1",
            "evidence": [
                {
                    "id": "0051019",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051019"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051019"
}