{
    "disease_id": "DOID:0111043",
    "recommended_name": {
        "id": "DOID:0111043",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111043",
        "name": "glycogen storage disease IXc",
        "description": "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11."
    },
    "synonyms": [
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "GSD type 9C",
            "description": ""
        },
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "GSD type IXc",
            "description": ""
        },
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "GSD9C",
            "description": ""
        },
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "glycogen storage disease type 9C",
            "description": ""
        },
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "glycogen storage disease type IXc",
            "description": ""
        },
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "glycogenosis type 9C",
            "description": ""
        },
        {
            "id": "DOID:0111043",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "name": "glycogenosis type IXc",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "glycogen storage disease IXc",
            "description": "A liver PhK deficiency caused by variants in the PHKG2 gene"
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "GSD type 9C",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "GSD type IXc",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "GSD9C",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "PHKG2 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "PHKG2-related glycogen storage disease type IX",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "glycogen storage disease IXc",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "glycogen storage disease caused by mutation in PHKG2",
            "description": ""
        },
        {
            "id": "MONDO:0013091",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "name": "glycogen storage disease type IXc",
            "description": ""
        },
        {
            "id": "MIM:613027",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613027",
            "name": "Glycogen storage disease 9C",
            "description": "Glycogen storage disease 9C"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111043"
    ],
    "unlinked_id_list": []
}