{
    "disease_id": "DOID:0112381",
    "recommended_name": {
        "id": "DOID:0112381",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0112381",
        "name": "muscular dystrophy-dystroglycanopathy type C12",
        "description": "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21."
    },
    "synonyms": [
        {
            "id": "DOID:0112381",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112381",
            "name": "MDDGC12",
            "description": ""
        },
        {
            "id": "DOID:0112381",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112381",
            "name": "Limb-girdle muscular dystrophy due to POMK deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112381",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112381",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related",
            "description": ""
        },
        {
            "id": "DOID:0112381",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112381",
            "name": "LGMD due to POMK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014489",
            "name": "limb-girdle muscular dystrophy due to POMK deficiency",
            "description": "Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence."
        },
        {
            "id": "MONDO:0014489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014489",
            "name": "LGMD due to POMK deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014489",
            "name": "MDDGC12",
            "description": ""
        },
        {
            "id": "MONDO:0014489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014489",
            "name": "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12",
            "description": ""
        },
        {
            "id": "MONDO:0014489",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014489",
            "name": "muscular dystrophy-dystroglycanopathy, limb-girdle, POMK-related",
            "description": ""
        },
        {
            "id": "MIM:616094",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616094",
            "name": "Muscular dystrophy-dystroglycanopathy limb-girdle C12",
            "description": "Muscular dystrophy-dystroglycanopathy limb-girdle C12"
        }
    ]
}