{
    "disease_id": "DOID:0050559",
    "recommended_name": {
        "id": "DOID:0050559",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050559",
        "name": "Fukuyama congenital muscular dystrophy",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein."
    },
    "synonyms": [
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
            "description": "Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment."
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "FCMD",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "Fukuyama Type Congenital Muscular Dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "Fukuyama congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "MDDGA4",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscle-eye-brain-FKTN related",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with Brain and eye anomalies) type A, 4",
            "description": ""
        },
        {
            "id": "MONDO:0009678",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4",
            "description": ""
        },
        {
            "id": "MIM:253800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/253800",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050559"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050559",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050559",
            "categories": []
        },
        {
            "id": "MONDO:0009678",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009678",
            "categories": []
        },
        {
            "id": "MIM:253800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/253800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "2218",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/2218#disease"
                },
                {
                    "id": "0009678",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009678"
                },
                {
                    "id": "253800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/253800"
                },
                {
                    "id": "FKTN",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details"
                },
                {
                    "id": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "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": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62165-1",
            "uniprot_ac": "Q62165",
            "uniprot_id": "DAG1_MOUSE",
            "refseq_ac": "NP_001263410",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystroglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "Dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-associated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin associated glycoprotein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dag1",
                    "type": "recommended"
                },
                {
                    "name": "D9Wsu13e",
                    "type": "synonym"
                },
                {
                    "name": "DG",
                    "type": "synonym"
                },
                {
                    "name": "Dag1",
                    "type": "synonym"
                },
                {
                    "name": "Dp427",
                    "type": "synonym"
                },
                {
                    "name": "Dp71",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62165-1",
            "evidence": [
                {
                    "id": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "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": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "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": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "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": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M8K0-1",
            "uniprot_ac": "F1M8K0",
            "uniprot_id": "F1M8K0_RAT",
            "refseq_ac": "NP_446149",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystroglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "Dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-associated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "beta-dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 (dystrophin-associated glycoprotein 1)",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dag1",
                    "type": "recommended"
                },
                {
                    "name": "Dag1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M8K0-1",
            "evidence": [
                {
                    "id": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46153-1",
            "uniprot_ac": "P46153",
            "uniprot_id": "GATA6_RAT",
            "refseq_ac": "NP_062058",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-6",
                    "type": "recommended"
                },
                {
                    "name": "DNA-binding protein GATA-GT2",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 6",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gata6",
                    "type": "recommended"
                },
                {
                    "name": "Gata6",
                    "type": "synonym"
                }
            ],
            "record_id": "P46153-1",
            "evidence": [
                {
                    "id": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0C4DHF6-1",
            "uniprot_ac": "A0A0C4DHF6",
            "uniprot_id": "A0A0C4DHF6_DROME",
            "refseq_ac": "NP_788363",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystroglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "CG18250-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dg-PD",
                    "type": "synonym"
                },
                {
                    "name": "Dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-associated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "alphaDystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "atsugari",
                    "type": "synonym"
                },
                {
                    "name": "dystroglican",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan-like",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dg",
                    "type": "recommended"
                },
                {
                    "name": "CG18250",
                    "type": "synonym"
                },
                {
                    "name": "CT41273",
                    "type": "synonym"
                },
                {
                    "name": "DG",
                    "type": "synonym"
                },
                {
                    "name": "Dg",
                    "type": "synonym"
                },
                {
                    "name": "DmDG",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18250",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18250",
                    "type": "synonym"
                },
                {
                    "name": "alpha-DG",
                    "type": "synonym"
                },
                {
                    "name": "atu",
                    "type": "synonym"
                },
                {
                    "name": "dgn",
                    "type": "synonym"
                },
                {
                    "name": "dg",
                    "type": "synonym"
                },
                {
                    "name": "dys",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0C4DHF6-1",
            "evidence": [
                {
                    "id": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14118-1",
            "uniprot_ac": "Q14118",
            "uniprot_id": "DAG1_HUMAN",
            "refseq_ac": "NP_001159400",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystroglycan 1",
                    "type": "recommended"
                },
                {
                    "name": "Dystroglycan",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-associated glycoprotein 1",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 (dystrophin-associated glycoprotein 1)",
                    "type": "synonym"
                },
                {
                    "name": "dystroglycan 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAG1",
                    "type": "recommended"
                },
                {
                    "name": "156DAG",
                    "type": "synonym"
                },
                {
                    "name": "A3a",
                    "type": "synonym"
                },
                {
                    "name": "AGRNR",
                    "type": "synonym"
                },
                {
                    "name": "DAG1",
                    "type": "synonym"
                },
                {
                    "name": "DAG",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR16",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA9",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC7",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC9",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14118-1",
            "evidence": [
                {
                    "id": "0050559",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050559"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050559"
}