{
    "disease_id": "DOID:0111241",
    "recommended_name": {
        "id": "DOID:0111241",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111241",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A5",
        "description": "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111241",
            "name": "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5",
            "description": ""
        },
        {
            "id": "DOID:0111241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111241",
            "name": "MDDGA5",
            "description": ""
        },
        {
            "id": "DOID:0111241",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111241",
            "name": "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related",
            "description": ""
        },
        {
            "id": "MONDO:0013157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013157",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5",
            "description": ""
        },
        {
            "id": "MONDO:0013157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013157",
            "name": "muscle-eye-brain-FKRP related",
            "description": ""
        },
        {
            "id": "MONDO:0013157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013157",
            "name": "MDDGA5",
            "description": ""
        },
        {
            "id": "MONDO:0013157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013157",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5",
            "description": ""
        },
        {
            "id": "MIM:613153",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613153",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111241"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111241",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111241",
            "categories": []
        },
        {
            "id": "MONDO:0013157",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013157",
            "categories": []
        },
        {
            "id": "MIM:613153",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613153",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8CG64-1",
            "uniprot_ac": "Q8CG64",
            "uniprot_id": "FKRP_MOUSE",
            "refseq_ac": "NP_775606",
            "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 FKRP",
                    "type": "recommended"
                },
                {
                    "name": "2.4.2.-",
                    "type": "synonym"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkrp",
                    "type": "recommended"
                },
                {
                    "name": "A830029B19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Fkrp",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1I",
                    "type": "synonym"
                },
                {
                    "name": "MDC1C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CG64-1",
            "evidence": [
                {
                    "id": "0111241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9S5-1",
            "uniprot_ac": "Q9H9S5",
            "uniprot_id": "FKRP_HUMAN",
            "refseq_ac": "NP_001034974",
            "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 FKRP",
                    "type": "recommended"
                },
                {
                    "name": "2.7.8.-",
                    "type": "synonym"
                },
                {
                    "name": "Fukutin-related protein",
                    "type": "synonym"
                },
                {
                    "name": "Ribitol-5-phosphate transferase",
                    "type": "synonym"
                },
                {
                    "name": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
                },
                {
                    "name": "ribitol-5-phosphate transferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FKRP",
                    "type": "recommended"
                },
                {
                    "name": "FKRP",
                    "type": "synonym"
                },
                {
                    "name": "FKTR",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2I",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR9",
                    "type": "synonym"
                },
                {
                    "name": "MDC1C",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA5",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB5",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9S5-1",
            "evidence": [
                {
                    "id": "613153",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613153"
                },
                {
                    "id": "FKRP",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/FKRP/#!details"
                },
                {
                    "id": "0111241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4KLJ4-1",
            "uniprot_ac": "Q4KLJ4",
            "uniprot_id": "Q4KLJ4_RAT",
            "refseq_ac": "NP_001020849",
            "glycoprotein": "yes",
            "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": "ribitol 5-phosphate transferase FKRP",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fkrp",
                    "type": "recommended"
                },
                {
                    "name": "Fkrp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q4KLJ4-1",
            "evidence": [
                {
                    "id": "0111241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111241"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2P2-1",
            "uniprot_ac": "Q9W2P2",
            "uniprot_id": "Q9W2P2_DROME",
            "refseq_ac": "NP_611531",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "FKRP stem domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG15651-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15651",
                    "type": "recommended"
                },
                {
                    "name": "CG15651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15651",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15651",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2P2-1",
            "evidence": [
                {
                    "id": "0111241",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111241"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111241"
}