{
    "disease_id": "DOID:0080566",
    "recommended_name": {
        "id": "DOID:0080566",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080566",
        "name": "congenital disorder of glycosylation In",
        "description": "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0080566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080566",
            "name": "congenital disorder of glycosylation 1n",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-congenital disorder of glycosylation",
            "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)."
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDG syndrome type In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDG-In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDG1N",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "Man5GlcNAc2-PP-Dol flippase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "carbohydrate deficient glycoprotein syndrome type In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "congenital disorder of glycosylation type 1n",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "congenital disorder of glycosylation type In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDGIN",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-CDG (CDG-In)",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "congenital disorder of glycosylation, type In",
            "description": ""
        },
        {
            "id": "MIM:612015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612015",
            "name": "Congenital disorder of glycosylation 1N",
            "description": "Congenital disorder of glycosylation 1N"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080566"
    ],
    "unlinked_id_list": []
}