{
    "disease_id": "DOID:0110293",
    "recommended_name": {
        "id": "DOID:0110293",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110293",
        "name": "autosomal recessive limb-girdle muscular dystrophy type 2P",
        "description": "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110293",
            "name": "LGMD2P",
            "description": ""
        },
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110293",
            "name": "MDDGC9",
            "description": ""
        },
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110293",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9",
            "description": ""
        },
        {
            "id": "DOID:0110293",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110293",
            "name": "muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "autosomal recessive limb-girdle muscular dystrophy type 2P",
            "description": "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles."
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "DAG1 autosomal recessive limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "LGMD2P",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "MDDGC9",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "limb-girdle muscular dystrophy type 2P",
            "description": ""
        },
        {
            "id": "MONDO:0013440",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9",
            "description": ""
        },
        {
            "id": "MIM:613818",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613818",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C9",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110293"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110293",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110293",
            "categories": []
        },
        {
            "id": "MONDO:0013440",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013440",
            "categories": []
        },
        {
            "id": "MIM:613818",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613818",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0110293",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110293"
                }
            ]
        },
        {
            "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": "613818",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613818"
                },
                {
                    "id": "0110293",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110293"
                }
            ]
        },
        {
            "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": "0110293",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110293"
                }
            ]
        },
        {
            "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": "0110293",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110293"
                }
            ]
        },
        {
            "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": "0110293",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110293"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110293"
}