{
    "disease_id": "DOID:0080562",
    "recommended_name": {
        "id": "DOID:0080562",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080562",
        "name": "congenital disorder of glycosylation Ij",
        "description": "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080562",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080562",
            "name": "Congenital disorder of glycosylation 1j",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-congenital disorder of glycosylation",
            "description": "DPAGT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia. Additional features that may be observed include apnea and respiratory deficiency, cataracts, joint contractures, vermian hypoplasia, dysmorphic features (esotropia, arched palate, micrognathia, finger clinodactyly, single flexion creases) and feeding difficulties. The disease is caused by loss-of-function mutations in the gene DPAGT1 (11q23.3)."
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG syndrome type Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG-Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG1J",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDGIj",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "carbohydrate deficient glycoprotein syndrome type Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "congenital disorder of glycosylation type 1j",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "congenital disorder of glycosylation type Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG 1J",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "CDG Ij",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "DPAGT1-CDG (CDG-Ij)",
            "description": ""
        },
        {
            "id": "MONDO:0011964",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011964",
            "name": "congenital disorder of glycosylation, type Ij",
            "description": ""
        },
        {
            "id": "MIM:608093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/608093",
            "name": "Congenital disorder of glycosylation 1J",
            "description": "Congenital disorder of glycosylation 1J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080562"
    ],
    "unlinked_id_list": []
}