{
    "disease_id": "DOID:0111229",
    "recommended_name": {
        "id": "DOID:0111229",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111229",
        "name": "congenital muscular dystrophy-dystroglycanopathy type A",
        "description": "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing."
    },
    "synonyms": [
        {
            "id": "DOID:0111229",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111229",
            "name": "klissencephaly type 2 with muscular and ocular involvement",
            "description": ""
        },
        {
            "id": "DOID:0111229",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111229",
            "name": "MDDGA",
            "description": ""
        },
        {
            "id": "DOID:0111229",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111229",
            "name": "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1",
            "description": "An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death."
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscle-eye-brain-POMT1 related",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "MDDGA1",
            "description": ""
        },
        {
            "id": "MONDO:0009364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1",
            "description": ""
        },
        {
            "id": "MIM:236670",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/236670",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A1"
        }
    ],
    "children": [
        {
            "id": "DOID:0050559",
            "label": "Fukuyama congenital muscular dystrophy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111230",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A11",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111231",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A8",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111232",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111233",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A14",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111234",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A7",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111235",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A12",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111236",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111237",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111238",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A13",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111239",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A10",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111240",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111241",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111242",
            "label": "congenital muscular dystrophy-dystroglycanopathy type A6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111232",
        "DOID:0111234",
        "DOID:0111229",
        "DOID:0111240",
        "DOID:0111241",
        "DOID:0111237",
        "DOID:0111238",
        "DOID:0111233",
        "DOID:0111236",
        "DOID:0111235",
        "DOID:0111231",
        "DOID:0111230",
        "DOID:0111242",
        "DOID:0111239",
        "DOID:0050559"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111229",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111229",
            "categories": []
        },
        {
            "id": "MONDO:0009364",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009364",
            "categories": []
        },
        {
            "id": "MIM:236670",
            "database": "MIM",
            "url": "https://www.omim.org/entry/236670",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Y6A1-1",
            "uniprot_ac": "Q9Y6A1",
            "uniprot_id": "POMT1_HUMAN",
            "refseq_ac": "NP_001070833",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein O-mannosyl-transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.109",
                    "type": "synonym"
                },
                {
                    "name": "Dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "dolichyl-phosphate-mannose--protein mannosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "protein O-mannosyl-transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 57p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMT1",
                    "type": "recommended"
                },
                {
                    "name": "LGMD2K",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR11",
                    "type": "synonym"
                },
                {
                    "name": "MDDGA1",
                    "type": "synonym"
                },
                {
                    "name": "MDDGB1",
                    "type": "synonym"
                },
                {
                    "name": "MDDGC1",
                    "type": "synonym"
                },
                {
                    "name": "POMT1",
                    "type": "synonym"
                },
                {
                    "name": "RT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6A1-1",
            "evidence": [
                {
                    "id": "236670",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/236670"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111229"
}