{
    "disease_id": "DOID:0111698",
    "recommended_name": {
        "id": "DOID:0111698",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111698",
        "name": "proprotein convertase 1/3 deficiency",
        "description": "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15."
    },
    "synonyms": [
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "obesity and endocrinopathy due to impaired processing of prohormones",
            "description": ""
        },
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "PCI deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "obesity due to prohormone convertase I deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111698",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111698",
            "name": "obesity with impaired prohormone processing",
            "description": ""
        },
        {
            "id": "MONDO:0010961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "name": "obesity due to prohormone convertase I deficiency",
            "description": "Prohormone convertase-I deficiency is the rarest form of monogenic obesity. The disorder is characterized by severe childhood obesity, hypoadrenalism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones."
        },
        {
            "id": "MONDO:0010961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "name": "PCI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010961",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010961",
            "name": "PCSK1 Deficiency",
            "description": ""
        },
        {
            "id": "MIM:600955",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600955",
            "name": "Proprotein convertase 1 deficiency",
            "description": "Proprotein convertase 1 deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111698"
    ],
    "unlinked_id_list": []
}