{
    "disease_id": "DOID:0110635",
    "recommended_name": {
        "id": "DOID:0110635",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0110635",
        "name": "muscular dystrophy-dystroglycanopathy type B5",
        "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110635",
            "name": "FKRP-related congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110635",
            "name": "MDC1C",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110635",
            "name": "MDDGB5",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110635",
            "name": "congenital muscular dystrophy 1C",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110635",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5",
            "description": ""
        },
        {
            "id": "DOID:0110635",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0110635",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy-dystroglycanopathy type B5",
            "description": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5; MDDGB5",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "MDC1C",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "FKRP-related congenital muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy, congenital, 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy, congenital, FKRP-related",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "congenital muscular dystrophy 1C",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5",
            "description": ""
        },
        {
            "id": "MONDO:0011688",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011688",
            "name": "MDDGB5",
            "description": ""
        },
        {
            "id": "MIM:606612",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606612",
            "name": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5",
            "description": "Muscular dystrophy-dystroglycanopathy congenital with or without impaired intellectual development B5"
        }
    ]
}