{
    "disease_id": "DOID:0111040",
    "recommended_name": {
        "id": "DOID:0111040",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111040",
        "name": "glycogen storage disease IXd",
        "description": "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13."
    },
    "synonyms": [
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type 9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type 9E",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD type IXe",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "GSD9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "X-linked muscke glycogenosis",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type 9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type 9E",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease type IXe",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type 9D",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type 9E",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type IXd",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogenosis type IXe",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111040",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "name": "glycogen storage disease due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease IXd",
            "description": "A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness."
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD type 9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "PHKA1 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "PHKA1-related glycogen storage disease type IX",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease caused by mutation in PHKA1",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease type 9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogenosis due to muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogenosis type 9D",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogenosis type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "muscle glycogenosis, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "muscle phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "GSD Vb",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "glycogen storage disease, type IXd",
            "description": ""
        },
        {
            "id": "MONDO:0010362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "name": "muscular phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:300559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300559",
            "name": "Glycogen storage disease 9D",
            "description": "Glycogen storage disease 9D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111040"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111040",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111040",
            "categories": []
        },
        {
            "id": "MONDO:0010362",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010362",
            "categories": []
        },
        {
            "id": "MIM:300559",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300559",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7T1-1",
            "uniprot_ac": "A0ACD6B7T1",
            "uniprot_id": "A0ACD6B7T1_DANRE",
            "refseq_ac": "XP_009293853",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Phosphorylase b kinase regulatory subunit",
                    "type": "recommended"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "phka1b",
                    "type": "recommended"
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                {
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                    "type": "synonym"
                }
            ],
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                    "id": "0111040",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111040"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q7SXM0-1",
            "uniprot_ac": "Q7SXM0",
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            "refseq_ac": "NP_998596",
            "glycoprotein": "no",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Histone deacetylase 8",
                    "type": "recommended"
                },
                {
                    "name": "3.5.1.-",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.98",
                    "type": "synonym"
                },
                {
                    "name": "HD8",
                    "type": "synonym"
                },
                {
                    "name": "Protein deacetylase HDAC8",
                    "type": "synonym"
                },
                {
                    "name": "Protein decrotonylase HDAC8",
                    "type": "synonym"
                },
                {
                    "name": "histone deacetylase 8",
                    "type": "synonym"
                },
                {
                    "name": "protein deacetylase HDAC8",
                    "type": "synonym"
                },
                {
                    "name": "protein decrotonylase HDAC8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hdac8",
                    "type": "recommended"
                },
                {
                    "name": "phka1a",
                    "type": "recommended"
                },
                {
                    "name": "hdac8",
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                },
                {
                    "name": "phka1a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd19a02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66196",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SXM0-1",
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                    "id": "0111040",
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            ]
        },
        {
            "uniprot_canonical_ac": "P18826-1",
            "uniprot_ac": "P18826",
            "uniprot_id": "KPB1_MOUSE",
            "refseq_ac": "NP_032858",
            "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 alpha, skeletal muscle isoform",
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                },
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                    "name": "Phosphorylase kinase alpha M subunit",
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                {
                    "name": "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 1",
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                {
                    "name": "phosphorylase kinase alpha M subunit",
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                }
            ],
            "gene_names": [
                {
                    "name": "Phka1",
                    "type": "recommended"
                },
                {
                    "name": "5330411D17",
                    "type": "synonym"
                },
                {
                    "name": "9830108K24Rik",
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                },
                {
                    "name": "Phka1",
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                },
                {
                    "name": "Phka",
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                    "id": "0111040",
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            ]
        },
        {
            "uniprot_canonical_ac": "P46020-1",
            "uniprot_ac": "P46020",
            "uniprot_id": "KPB1_HUMAN",
            "refseq_ac": "NP_001116142",
            "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 alpha, skeletal muscle isoform",
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                },
                {
                    "name": "Phosphorylase kinase alpha M subunit",
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                },
                {
                    "name": "phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase alpha M subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHKA1",
                    "type": "recommended"
                },
                {
                    "name": "PHKA1",
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                },
                {
                    "name": "PHKA",
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                }
            ],
            "record_id": "P46020-1",
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                {
                    "id": "300559",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300559"
                },
                {
                    "id": "0111040",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64649-1",
            "uniprot_ac": "Q64649",
            "uniprot_id": "KPB1_RAT",
            "refseq_ac": "",
            "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 alpha, skeletal muscle isoform",
                    "type": "recommended"
                },
                {
                    "name": "Phosphorylase kinase alpha M subunit",
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                }
            ],
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                {
                    "name": "Phka1",
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            ],
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                {
                    "id": "0111040",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111040"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W391-1",
            "uniprot_ac": "Q9W391",
            "uniprot_id": "KPBA_DROME",
            "refseq_ac": "NP_572525",
            "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 alpha",
                    "type": "recommended"
                },
                {
                    "name": "CG7766-PA",
                    "type": "synonym"
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                {
                    "name": "Phosphorylase kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
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                }
            ],
            "gene_names": [
                {
                    "name": "Phka",
                    "type": "recommended"
                },
                {
                    "name": "CG7766",
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                },
                {
                    "name": "Dmel\\CG7766",
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                {
                    "name": "Dmel_CG7766",
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                    "id": "0111040",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111040"
}