{
    "disease_id": "DOID:0080098",
    "recommended_name": {
        "id": "DOID:0080098",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080098",
        "name": "myofibrillar myopathy 7",
        "description": "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "myofibrillar myopathy 7",
            "description": "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene."
        },
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "KY myofibrillar myopathy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "myofibrillar myopathy (disease) caused by mutation in KY",
            "description": ""
        },
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "myopathy, myofibrillar, 7",
            "description": ""
        },
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "myopathy, myofibrillar, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0014922",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "name": "MFM7",
            "description": ""
        },
        {
            "id": "MIM:617114",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617114",
            "name": "Myopathy, myofibrillar, 7",
            "description": "Myopathy, myofibrillar, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080098"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080098",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080098",
            "categories": []
        },
        {
            "id": "MONDO:0014922",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014922",
            "categories": []
        },
        {
            "id": "MIM:617114",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617114",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C8H8-1",
            "uniprot_ac": "Q8C8H8",
            "uniprot_id": "KY_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kyphoscoliosis peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ky",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8C8H8-1",
            "evidence": [
                {
                    "id": "0080098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8NBH2-4",
            "uniprot_ac": "Q8NBH2",
            "uniprot_id": "KY_HUMAN",
            "refseq_ac": "NP_848649",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kyphoscoliosis peptidase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.-.-",
                    "type": "synonym"
                },
                {
                    "name": "kyphoscoliosis peptidase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KY",
                    "type": "recommended"
                },
                {
                    "name": "KY",
                    "type": "synonym"
                },
                {
                    "name": "MFM7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NBH2-4",
            "evidence": [
                {
                    "id": "617114",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617114"
                },
                {
                    "id": "0080098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07533-1",
            "uniprot_ac": "Q07533",
            "uniprot_id": "CYK3_YEAST",
            "refseq_ac": "NP_010166",
            "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": "Cytokinesis protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Cyk3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYK3",
                    "type": "recommended"
                },
                {
                    "name": "CYK3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07533-1",
            "evidence": [
                {
                    "id": "0080098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z953-1",
            "uniprot_ac": "D3Z953",
            "uniprot_id": "D3Z953_RAT",
            "refseq_ac": "NP_001400725",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kyphoscoliosis peptidase",
                    "type": "synonym"
                },
                {
                    "name": "kyphoscoliosis peptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ky",
                    "type": "recommended"
                },
                {
                    "name": "Ky",
                    "type": "synonym"
                }
            ],
            "record_id": "D3Z953-1",
            "evidence": [
                {
                    "id": "0080098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080098"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0E908-1",
            "uniprot_ac": "Q0E908",
            "uniprot_id": "HIL_DROME",
            "refseq_ac": "NP_611493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hillarin",
                    "type": "recommended"
                },
                {
                    "name": "CG30147-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Hillarin",
                    "type": "synonym"
                },
                {
                    "name": "D-hillarin",
                    "type": "synonym"
                },
                {
                    "name": "D-hil",
                    "type": "synonym"
                },
                {
                    "name": "Hil-PA",
                    "type": "synonym"
                },
                {
                    "name": "hillarin, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hil",
                    "type": "recommended"
                },
                {
                    "name": "CG10439",
                    "type": "synonym"
                },
                {
                    "name": "CG13435",
                    "type": "synonym"
                },
                {
                    "name": "CG30147",
                    "type": "synonym"
                },
                {
                    "name": "D-hil",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30147",
                    "type": "synonym"
                },
                {
                    "name": "Hil",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0E908-1",
            "evidence": [
                {
                    "id": "0080098",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080098"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080098"
}