{
    "disease_id": "DOID:0070268",
    "recommended_name": {
        "id": "DOID:0070268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070268",
        "name": "congenital disorder of glycosylation type IIp",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDG IIp",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDG syndrome type IIp",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDG2P",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "Congenital disorder of glycosylation type 2p",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "TMEM199-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIp",
            "description": ""
        },
        {
            "id": "DOID:0070268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070268",
            "name": "CDGIIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "TMEM199-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "CDG syndrome type IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "CDG-IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "CDG2P",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "carbohydrate deficient glycoprotein syndrome type IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "congenital disorder of glycosylation type 2p",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "congenital disorder of glycosylation type IIp",
            "description": ""
        },
        {
            "id": "MONDO:0014790",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014790",
            "name": "congenital disorder of glycosylation, type IIp",
            "description": ""
        },
        {
            "id": "MIM:616829",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616829",
            "name": "Congenital disorder of glycosylation 2P",
            "description": "Congenital disorder of glycosylation 2P"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070268"
    ],
    "unlinked_id_list": []
}
