{
    "disease_id": "DOID:0050570",
    "recommended_name": {
        "id": "DOID:0050570",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050570",
        "name": "congenital disorder of glycosylation type I",
        "description": "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins."
    },
    "synonyms": [
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "PMM2-congenital disorder of glycosylation",
            "description": "The most frequent form of congenital disorder of N-glycosylation and is characterized by cerebellar dysfunction, abnormal fat distribution, inverted nipples, strabismus and hypotonia. 3 forms of PMM2-CDG can be distinguished: the infantile multisystem type, late-infantile and childhood ataxia-intellectual disability type (3-10 yrs old), and the adult stable disability type. Infants usually develop ataxia, psychomotor delay and extraneurological manifestations including failure to thrive, enteropathy, hepatic dysfunction, coagulation abnormalities and cardiac and renal involvement. The phenotype is however highly variable and ranges from infants who die in the first year of life to mildly involved adults."
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "CDG 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "CDG syndrome type Ia",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "CDG-IA",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "CDG1A",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "PMM2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "PMM2-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "carbohydrate deficient glycoprotein syndrome type Ia",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "congenital disorder of glycosylation type 1a",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "congenital disorder of glycosylation type Ia",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "phosphomannomutase 2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "PMM2-CDG (CDG-Ia)",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1A (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "carbohydrate-deficient glycoprotein syndrome, type Ia",
            "description": ""
        },
        {
            "id": "MONDO:0008907",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008907",
            "name": "congenital disorder of glycosylation, type Ia",
            "description": ""
        },
        {
            "id": "MIM:212065",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212065",
            "name": "Congenital disorder of glycosylation 1A",
            "description": "Congenital disorder of glycosylation 1A"
        }
    ],
    "children": [
        {
            "id": "DOID:0080552",
            "label": "congenital disorder of glycosylation Ia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080553",
            "label": "congenital disorder of glycosylation Iaa",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080554",
            "label": "congenital disorder of glycosylation Ib",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080555",
            "label": "congenital disorder of glycosylation Ic",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080556",
            "label": "congenital disorder of glycosylation Id",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080557",
            "label": "congenital disorder of glycosylation Ie",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080558",
            "label": "congenital disorder of glycosylation If",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080559",
            "label": "congenital disorder of glycosylation Ig",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080560",
            "label": "congenital disorder of glycosylation Ih",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080561",
            "label": "congenital disorder of glycosylation Ii",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080562",
            "label": "congenital disorder of glycosylation Ij",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080563",
            "label": "congenital disorder of glycosylation Ik",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080564",
            "label": "congenital disorder of glycosylation Il",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080565",
            "label": "congenital disorder of glycosylation Im",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080566",
            "label": "congenital disorder of glycosylation In",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080567",
            "label": "congenital disorder of glycosylation Ip",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080568",
            "label": "congenital disorder of glycosylation Iq",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080569",
            "label": "congenital disorder of glycosylation Ir",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080570",
            "label": "congenital disorder of glycosylation It",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080571",
            "label": "congenital disorder of glycosylation Iu",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080572",
            "label": "congenital disorder of glycosylation Iw",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080573",
            "label": "congenital disorder of glycosylation Ix",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080574",
            "label": "congenital disorder of glycosylation Iy",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111839",
            "label": "congenital disorder of glycosylation Icc",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111839",
        "DOID:0080568",
        "DOID:0080567",
        "DOID:0080557",
        "DOID:0080558",
        "DOID:0080572",
        "DOID:0080563",
        "DOID:0080574",
        "DOID:0080555",
        "DOID:0080556",
        "DOID:0080562",
        "DOID:0050570",
        "DOID:0080571",
        "DOID:0080553",
        "DOID:0080561",
        "DOID:0080559",
        "DOID:0080564",
        "DOID:0080554",
        "DOID:0080552",
        "DOID:0080566",
        "DOID:0080570",
        "DOID:0080573",
        "DOID:0080560",
        "DOID:0080565",
        "DOID:0080569"
    ],
    "unlinked_id_list": []
}