{
    "disease_id": "DOID:0111042",
    "recommended_name": {
        "id": "DOID:0111042",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111042",
        "name": "glycogen storage disease IXa1",
        "description": "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "GSD type 9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "GSD type IXa",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "GSD9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "glycogen storage disease type 9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "glycogenosis type 9A",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "glycogenosis type IXa",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "glycogen storage disease IXa",
            "description": ""
        },
        {
            "id": "DOID:0111042",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "name": "glycogen storage disease IXa2",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa1",
            "description": "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene, with no PHK activity in liver or erythrocytes."
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "PHKA2 glycogen storage disease",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "PHKA2-related glycogen storage disease type IX",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease IXa1",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease VIII",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease caused by mutation in PHKA2",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease type IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease type VIII",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease, type IXa1, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease, type IXa2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogenosis type 9A",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogenosis type IXa",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "GSD9A1",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "PYKL",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogen storage disease 8",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "glycogenosis type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "hepatic phosphorylase kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010598",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "name": "phosphorylase kinase deficiency of liver",
            "description": ""
        },
        {
            "id": "MIM:306000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/306000",
            "name": "Glycogen storage disease 9A",
            "description": "Glycogen storage disease 9A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111042"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111042",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111042",
            "categories": []
        },
        {
            "id": "MONDO:0010598",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010598",
            "categories": []
        },
        {
            "id": "MIM:306000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/306000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QI67-1",
            "uniprot_ac": "A0A8M9QI67",
            "uniprot_id": "A0A8M9QI67_DANRE",
            "refseq_ac": "XP_021335546",
            "glycoprotein": "yes",
            "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 alpha, liver isoform isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phka2",
                    "type": "recommended"
                },
                {
                    "name": "phka2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QI67-1",
            "evidence": [
                {
                    "id": "0111042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWJ3-1",
            "uniprot_ac": "Q8BWJ3",
            "uniprot_id": "KPB2_MOUSE",
            "refseq_ac": "NP_001171350",
            "glycoprotein": "no",
            "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, liver isoform",
                    "type": "recommended"
                },
                {
                    "name": "Phosphorylase kinase alpha L subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit alpha, liver isoform isoform a",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase alpha L subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phka2",
                    "type": "recommended"
                },
                {
                    "name": "6330505C01Rik",
                    "type": "synonym"
                },
                {
                    "name": "D330034O08",
                    "type": "synonym"
                },
                {
                    "name": "Phka2",
                    "type": "synonym"
                },
                {
                    "name": "Phk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BWJ3-1",
            "evidence": [
                {
                    "id": "0111042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46019-1",
            "uniprot_ac": "P46019",
            "uniprot_id": "KPB2_HUMAN",
            "refseq_ac": "NP_000283",
            "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, liver isoform",
                    "type": "recommended"
                },
                {
                    "name": "Phosphorylase kinase alpha L subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase regulatory subunit alpha, liver isoform isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase alpha L subunit",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase alpha-subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHKA2",
                    "type": "recommended"
                },
                {
                    "name": "GSD9A",
                    "type": "synonym"
                },
                {
                    "name": "PHKA2",
                    "type": "synonym"
                },
                {
                    "name": "PHKLA",
                    "type": "synonym"
                },
                {
                    "name": "PHK",
                    "type": "synonym"
                },
                {
                    "name": "PYKL",
                    "type": "synonym"
                },
                {
                    "name": "PYK",
                    "type": "synonym"
                },
                {
                    "name": "XLG2",
                    "type": "synonym"
                },
                {
                    "name": "XLG",
                    "type": "synonym"
                }
            ],
            "record_id": "P46019-1",
            "evidence": [
                {
                    "id": "306000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/306000"
                },
                {
                    "id": "0111042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111042"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A710-1",
            "uniprot_ac": "A0A8I6A710",
            "uniprot_id": "A0A8I6A710_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "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"
                }
            ],
            "gene_names": [
                {
                    "name": "AABR07037995.1",
                    "type": "recommended"
                },
                {
                    "name": "Phka2",
                    "type": "recommended"
                },
                {
                    "name": "AABR07037995.1",
                    "type": "synonym"
                },
                {
                    "name": "Phka2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A710-1",
            "evidence": [
                {
                    "id": "0111042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111042"
                }
            ]
        },
        {
            "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"
                },
                {
                    "name": "Phosphorylase kinase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phka",
                    "type": "recommended"
                },
                {
                    "name": "CG7766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7766",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7766",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W391-1",
            "evidence": [
                {
                    "id": "0111042",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111042"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111042"
}