{
    "disease_id": "DOID:0080571",
    "recommended_name": {
        "id": "DOID:0080571",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080571",
        "name": "congenital disorder of glycosylation Iu",
        "description": "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0080571",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080571",
            "name": "congenital disorder of glycosylation 1u",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital muscular dystrophy with intellectual disability and severe epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation type 1u",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG-Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "carbohydrate deficient glycoprotein syndrome type Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG syndrome type Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation type Iu",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation, type Iu; CDG1U",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CDG1U",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "CMD with intellectual disability and severe epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "DPM2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014023",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014023",
            "name": "congenital disorder of glycosylation, type Iu",
            "description": ""
        },
        {
            "id": "MIM:615042",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615042",
            "name": "Congenital disorder of glycosylation 1U",
            "description": "Congenital disorder of glycosylation 1U"
        }
    ]
}