{
    "disease_id": "DOID:0112380",
    "recommended_name": {
        "id": "DOID:0112380",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112380",
        "name": "muscular dystrophy-dystroglycanopathy type B2",
        "description": "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112380",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112380",
            "name": "MDDGB2",
            "description": ""
        },
        {
            "id": "DOID:0112380",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112380",
            "name": "congenital muscular dystrophy POMT2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",
            "description": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan."
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "congenital muscular dystrophy-POMT2 related",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "MDDGB2",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "muscular dystrophy, congenital, Pomt2-related",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2",
            "description": ""
        },
        {
            "id": "MONDO:0013160",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013160",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2",
            "description": ""
        },
        {
            "id": "MIM:613156",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613156",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112380"
    ],
    "unlinked_id_list": []
}