{
    "disease_id": "DOID:0070217",
    "recommended_name": {
        "id": "DOID:0070217",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070217",
        "name": "familial hyperinsulinemic hypoglycemia 6",
        "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070217",
            "name": "HHF6",
            "description": ""
        },
        {
            "id": "DOID:0070217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070217",
            "name": "HI/HA syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070217",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070217",
            "name": "hyperinsulinism-hyperammonemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinism-hyperammonemia syndrome",
            "description": "Hyperinsulinism-hyperammonemia syndrome (HIHA) is a frequent form of diazoxide-sensitive diffuse hyperinsulinism, characterized by an excessive/ uncontrolled insulin secretion (inappropriate for the level of glycemia), asymptomatic hyperammonemia and recurrent episodes of profound hypoglycemia induced by fasting and protein rich meals, requiring rapid and intensive treatment to prevent neurological sequelae. Epilepsy and cognitive deficit that are unrelated to hypoglycemia may also occur."
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "GDH hyperinsulinism",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "GLUD1 hyperinsulinism",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "glutamate dehydrogenase 1 hyperinsulinism",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hi/HA syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinemic hypoglycemia, familial, type 6",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinism-hyperammonemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinism/hyperammonemia syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "HA/hi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "HHF6",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinemic hypoglycemia familial 6",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinemic hypoglycemia, familial, 6",
            "description": ""
        },
        {
            "id": "MONDO:0011717",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011717",
            "name": "hyperinsulinism hyperammonemia syndrome",
            "description": ""
        },
        {
            "id": "MIM:606762",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606762",
            "name": "Hyperinsulinemic hypoglycemia, familial, 6",
            "description": "Hyperinsulinemic hypoglycemia, familial, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070217"
    ],
    "unlinked_id_list": []
}