{
    "disease_id": "DOID:0110443",
    "recommended_name": {
        "id": "DOID:0110443",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110443",
        "name": "dilated cardiomyopathy 1B",
        "description": "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0010951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010951",
            "name": "dilated cardiomyopathy 1B",
            "description": "A dilated cardiomyopathy that has material basis in variation in the chromosome region 9q13."
        },
        {
            "id": "MONDO:0010951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010951",
            "name": "cardiomyopathy, dilated 1B",
            "description": ""
        },
        {
            "id": "MONDO:0010951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010951",
            "name": "dilated cardiomyopathy type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0010951",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010951",
            "name": "cardiomyopathy, dilated, 1B",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110443"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110443",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110443",
            "categories": []
        },
        {
            "id": "MONDO:0010951",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010951",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8R507-1",
            "uniprot_ac": "Q8R507",
            "uniprot_id": "FKTN_MOUSE",
            "refseq_ac": "NP_647470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate transferase FKTN",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy (fukutin)",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy homolog",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fktn",
                    "type": "recommended"
                },
                {
                    "name": "D830030O17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fcmd",
                    "type": "synonym"
                },
                {
                    "name": "Fktn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R507-1",
            "evidence": [
                {
                    "id": "0110443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36044-1",
            "uniprot_ac": "P36044",
            "uniprot_id": "MNN4_YEAST",
            "refseq_ac": "NP_012721",
            "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": "Mannosyltransferase regulator 4",
                    "type": "recommended"
                },
                {
                    "name": "Mnn4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MNN4",
                    "type": "recommended"
                },
                {
                    "name": "MNN4",
                    "type": "synonym"
                },
                {
                    "name": "YKL200C",
                    "type": "synonym"
                }
            ],
            "record_id": "P36044-1",
            "evidence": [
                {
                    "id": "0110443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40355-1",
            "uniprot_ac": "P40355",
            "uniprot_id": "MNN14_YEAST",
            "refseq_ac": "NP_012595",
            "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": "Mannosyltransferase regulator 14",
                    "type": "recommended"
                },
                {
                    "name": "Mnn14p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MNN14",
                    "type": "recommended"
                },
                {
                    "name": "J1736",
                    "type": "synonym"
                },
                {
                    "name": "MNN14",
                    "type": "synonym"
                }
            ],
            "record_id": "P40355-1",
            "evidence": [
                {
                    "id": "0110443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZI33-1",
            "uniprot_ac": "D3ZI33",
            "uniprot_id": "D3ZI33_RAT",
            "refseq_ac": "NP_001102137",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "recommended"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy (fukutin)",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy homolog",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fktn",
                    "type": "recommended"
                },
                {
                    "name": "Fcmd",
                    "type": "synonym"
                },
                {
                    "name": "Fktn",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZI33-1",
            "evidence": [
                {
                    "id": "0110443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110443"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75072-1",
            "uniprot_ac": "O75072",
            "uniprot_id": "FKTN_HUMAN",
            "refseq_ac": "NP_001073270",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ribitol-5-phosphate transferase FKTN",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Fukuyama-type congenital muscular dystrophy protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "patient fukutin",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN isoform a",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase FKTN",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKTN",
                    "type": "recommended"
                },
                {
                    "name": "CMD1X",
                    "type": "synonym"
                },
                {
                    "name": "FCMD",
                    "type": "synonym"
                },
                {
                    "name": "FKTN",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2M",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR13",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA4",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB4",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC4",
                    "type": "synonym"
                }
            ],
            "record_id": "O75072-1",
            "evidence": [
                {
                    "id": "0110443",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110443"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110443"
}