{
    "disease_id": "DOID:0110296",
    "recommended_name": {
        "id": "DOID:0110296",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110296",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2M",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31."
    },
    "synonyms": [
        {
            "id": "DOID:0110296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110296",
            "name": "LGMD2M",
            "description": ""
        },
        {
            "id": "DOID:0110296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110296",
            "name": "MDDGC4",
            "description": ""
        },
        {
            "id": "DOID:0110296",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110296",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2M",
            "description": "A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases."
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "FKTN autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "LGMD-FKTN related",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "LGMD2M",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "MDDGC4",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "limb-girdle muscular dystrophy type 2M",
            "description": ""
        },
        {
            "id": "MONDO:0012699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4",
            "description": ""
        },
        {
            "id": "MIM:611588",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611588",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C4",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110296"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110296",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110296",
            "categories": []
        },
        {
            "id": "MONDO:0012699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012699",
            "categories": []
        },
        {
            "id": "MIM:611588",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611588",
            "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": "0012699",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012699"
                },
                {
                    "id": "611588",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611588"
                },
                {
                    "id": "FKTN",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKTN/#!details"
                },
                {
                    "id": "0110296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110296"
                }
            ]
        },
        {
            "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": "0110296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110296"
                }
            ]
        },
        {
            "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": "0110296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110296"
                }
            ]
        },
        {
            "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": "0110296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110296"
                }
            ]
        },
        {
            "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": "0110296",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110296"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110296"
}