{
    "disease_id": "DOID:0111041",
    "recommended_name": {
        "id": "DOID:0111041",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111041",
        "name": "glycogen storage disease IXb",
        "description": "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12."
    },
    "synonyms": [
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "GSD IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "GSD type 9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "GSD type IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "GSD9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "glycogen storage disease type 9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "glycogen storage disease type IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "glycogenosis type 9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "glycogenosis type IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "glycogenosis due to liver and muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111041",
            "name": "GSD due to liver and muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogen storage disease IXb",
            "description": "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency."
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "GSD IXb",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "GSD due to liver and muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "GSD type 9B",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "GSD type IXb",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "GSD9B",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "PHKB glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "PHKB-related glycogen storage disease type IX",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogen storage disease IXb",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogen storage disease caused by mutation in PHKB",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogen storage disease type 9B",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogen storage disease type IXb",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogenosis due to liver and muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogenosis type 9B",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogenosis type IXb",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "glycogenosis of liver and muscle, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009868",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "name": "phosphorylase kinase deficiency of liver and muscle, autosomal recessive",
            "description": ""
        },
        {
            "id": "MIM:261750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261750",
            "name": "Glycogen storage disease 9B",
            "description": "Glycogen storage disease 9B"
        }
    ]
}