{
    "disease_id": "DOID:0061025",
    "recommended_name": {
        "id": "DOID:0061025",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061025",
        "name": "familial restrictive cardiomyopathy 6",
        "description": "A restrictive cardiomyopathy characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death that has_material_basis_in compound heterozygous mutation in the KIF20A gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "DOID:0061025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061025",
            "name": "RCM6",
            "description": ""
        },
        {
            "id": "DOID:0061025",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061025",
            "name": "restrictive cardiomyopathy 6",
            "description": ""
        },
        {
            "id": "MONDO:0030330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030330",
            "name": "cardiomyopathy, familial restrictive, 6",
            "description": ""
        },
        {
            "id": "MONDO:0030330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030330",
            "name": "RCM6",
            "description": ""
        },
        {
            "id": "MONDO:0030330",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030330",
            "name": "cardiomyopathy, familial restrictive, 6",
            "description": ""
        },
        {
            "id": "MIM:619433",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619433",
            "name": "Cardiomyopathy, familial restrictive 6",
            "description": "Cardiomyopathy, familial restrictive 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061025"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061025",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061025",
            "categories": []
        },
        {
            "id": "MONDO:0030330",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030330",
            "categories": []
        },
        {
            "id": "MIM:619433",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619433",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QDF0-1",
            "uniprot_ac": "F1QDF0",
            "uniprot_id": "F1QDF0_DANRE",
            "refseq_ac": "NP_001154942",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein",
                    "type": "recommended"
                },
                {
                    "name": "kinesin-like protein KIF20A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "kif20a",
                    "type": "recommended"
                },
                {
                    "name": "kif20a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi34h02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj10c11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112061",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QDF0-1",
            "evidence": [
                {
                    "id": "0061025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97329-1",
            "uniprot_ac": "P97329",
            "uniprot_id": "KI20A_MOUSE",
            "refseq_ac": "NP_001159878",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF20A",
                    "type": "recommended"
                },
                {
                    "name": "Kinesin-like protein 174",
                    "type": "synonym"
                },
                {
                    "name": "Rab6-interacting kinesin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Rabkinesin-6",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein 174",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF20A",
                    "type": "synonym"
                },
                {
                    "name": "rab6-interacting kinesin-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif20a",
                    "type": "recommended"
                },
                {
                    "name": "Kif20a",
                    "type": "synonym"
                },
                {
                    "name": "Rab6kifl",
                    "type": "synonym"
                }
            ],
            "record_id": "P97329-1",
            "evidence": [
                {
                    "id": "0061025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95235-1",
            "uniprot_ac": "O95235",
            "uniprot_id": "KI20A_HUMAN",
            "refseq_ac": "NP_005724",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF20A",
                    "type": "recommended"
                },
                {
                    "name": "GG10_2",
                    "type": "synonym"
                },
                {
                    "name": "MKlp2",
                    "type": "synonym"
                },
                {
                    "name": "Mitotic kinesin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "RAB6 interacting, kinesin-like (rabkinesin6)",
                    "type": "synonym"
                },
                {
                    "name": "Rab6-interacting kinesin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Rabkinesin-6",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF20A",
                    "type": "synonym"
                },
                {
                    "name": "mitotic kinesin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "rab6-interacting kinesin-like protein",
                    "type": "synonym"
                },
                {
                    "name": "rabkinesin-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KIF20A",
                    "type": "recommended"
                },
                {
                    "name": "KIF20A",
                    "type": "synonym"
                },
                {
                    "name": "MKLP2",
                    "type": "synonym"
                },
                {
                    "name": "RAB6KIFL",
                    "type": "synonym"
                },
                {
                    "name": "RCM6",
                    "type": "synonym"
                }
            ],
            "record_id": "O95235-1",
            "evidence": [
                {
                    "id": "619433",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619433"
                },
                {
                    "id": "0061025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32364-1",
            "uniprot_ac": "P32364",
            "uniprot_id": "SMY1_YEAST",
            "refseq_ac": "NP_012844",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-related protein SMY1",
                    "type": "recommended"
                },
                {
                    "name": "Smy1p",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor protein SMY1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SMY1",
                    "type": "recommended"
                },
                {
                    "name": "SMY1",
                    "type": "synonym"
                },
                {
                    "name": "YKL409",
                    "type": "synonym"
                }
            ],
            "record_id": "P32364-1",
            "evidence": [
                {
                    "id": "0061025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061025"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V877-1",
            "uniprot_ac": "Q9V877",
            "uniprot_id": "SUB_DROME",
            "refseq_ac": "NP_001286548",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein subito",
                    "type": "recommended"
                },
                {
                    "name": "CG12298-PB",
                    "type": "synonym"
                },
                {
                    "name": "Kinesin_A",
                    "type": "synonym"
                },
                {
                    "name": "Protein double or nothing",
                    "type": "synonym"
                },
                {
                    "name": "double or nothing",
                    "type": "synonym"
                },
                {
                    "name": "double-or-nothing",
                    "type": "synonym"
                },
                {
                    "name": "sub-PB",
                    "type": "synonym"
                },
                {
                    "name": "subito, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "subito",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sub",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG12298",
                    "type": "synonym"
                },
                {
                    "name": "DmKlp54E",
                    "type": "synonym"
                },
                {
                    "name": "DmSub",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12298",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12298",
                    "type": "synonym"
                },
                {
                    "name": "Dub",
                    "type": "synonym"
                },
                {
                    "name": "KIF 20A",
                    "type": "synonym"
                },
                {
                    "name": "KIF20A/B",
                    "type": "synonym"
                },
                {
                    "name": "MKLP2",
                    "type": "synonym"
                },
                {
                    "name": "MKlp2",
                    "type": "synonym"
                },
                {
                    "name": "Mklp2",
                    "type": "synonym"
                },
                {
                    "name": "SUB",
                    "type": "synonym"
                },
                {
                    "name": "Subito",
                    "type": "synonym"
                },
                {
                    "name": "Sub",
                    "type": "synonym"
                },
                {
                    "name": "mei-1794",
                    "type": "synonym"
                },
                {
                    "name": "sub",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V877-1",
            "evidence": [
                {
                    "id": "0061025",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061025"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061025"
}