{
    "disease_id": "DOID:0111041",
    "recommended_name": {
        "id": "DOID:0111041",
        "resource": "Disease Ontology",
        "url": "https://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": "https://disease-ontology.org/term/DOID:0111041",
            "name": "GSD IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "GSD type 9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "GSD type IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "GSD9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "glycogen storage disease type 9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "glycogen storage disease type IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "glycogenosis type 9B",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "glycogenosis type IXb",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "name": "glycogenosis due to liver and muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111041",
            "resource": "Disease Ontology",
            "url": "https://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": "A disorder of glycogen metabolism caused by a deficiency in liver and muscle phosphorylase kinase subunit b, is autosomal recessive and can lead to hepatomegaly, hypoglycemia after prolonged fasting, and growth retardation."
        },
        {
            "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 9B",
            "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": "MIM:261750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/261750",
            "name": "Glycogen storage disease 9B",
            "description": "Glycogen storage disease 9B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111041"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111041",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111041",
            "categories": []
        },
        {
            "id": "MONDO:0009868",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009868",
            "categories": []
        },
        {
            "id": "MIM:261750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/261750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BDU6-1",
            "uniprot_ac": "A0A8M2BDU6",
            "uniprot_id": "A0A8M2BDU6_DANRE",
            "refseq_ac": "XP_005166460",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphorylase b kinase regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phkb",
                    "type": "recommended"
                },
                {
                    "name": "phkb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BDU6-1",
            "evidence": [
                {
                    "id": "0111041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSH2-1",
            "uniprot_ac": "Q7TSH2",
            "uniprot_id": "KPBB_MOUSE",
            "refseq_ac": "NP_955517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphorylase b kinase regulatory subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Phosphorylase kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phkb",
                    "type": "recommended"
                },
                {
                    "name": "Phkb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSH2-1",
            "evidence": [
                {
                    "id": "0111041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q93100-1",
            "uniprot_ac": "Q93100",
            "uniprot_id": "KPBB_HUMAN",
            "refseq_ac": "NP_000284",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphorylase b kinase regulatory subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "Phosphorylase kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta isoform a",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase beta-subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHKB",
                    "type": "recommended"
                },
                {
                    "name": "PHKB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q93100-1",
            "evidence": [
                {
                    "id": "261750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/261750"
                },
                {
                    "id": "0111041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y5Q0-1",
            "uniprot_ac": "A0A8I5Y5Q0",
            "uniprot_id": "A0A8I5Y5Q0_RAT",
            "refseq_ac": "NP_001401862",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphorylase b kinase regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase beta subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase, beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phkb",
                    "type": "recommended"
                },
                {
                    "name": "Phkb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y5Q0-1",
            "evidence": [
                {
                    "id": "0111041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111041"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VLS1-1",
            "uniprot_ac": "Q9VLS1",
            "uniprot_id": "KPBB_DROME",
            "refseq_ac": "NP_609189",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable phosphorylase b kinase regulatory subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG8475-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylase kinase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG8475",
                    "type": "recommended"
                },
                {
                    "name": "CG8475",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8475",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8475",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VLS1-1",
            "evidence": [
                {
                    "id": "0111041",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111041"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111041"
}