{
    "disease_id": "DOID:0060639",
    "recommended_name": {
        "id": "DOID:0060639",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060639",
        "name": "permanent neonatal diabetes mellitus",
        "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "name": "PDMI",
            "description": ""
        },
        {
            "id": "DOID:0060639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "name": "PNDM",
            "description": ""
        },
        {
            "id": "DOID:0060639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "name": "permanent diabetes mellitus of infancy",
            "description": ""
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "permanent neonatal diabetes mellitus 1",
            "description": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well."
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "PNDM1",
            "description": ""
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "diabetes mellitus, permanent neonatal 1",
            "description": ""
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "PDMI",
            "description": ""
        },
        {
            "id": "MIM:606176",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606176",
            "name": "Diabetes mellitus, permanent neonatal, 1",
            "description": "Diabetes mellitus, permanent neonatal, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060639"
    ],
    "unlinked_id_list": []
}