{
    "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": [],
    "crossref": [
        {
            "id": "DOID:0111043",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111043",
            "categories": []
        },
        {
            "id": "MONDO:0013091",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013091",
            "categories": []
        },
        {
            "id": "MIM:613027",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613027",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QXS6-1",
            "uniprot_ac": "F1QXS6",
            "uniprot_id": "F1QXS6_DANRE",
            "refseq_ac": "XP_009304874",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphorylase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.19",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "phkg2",
                    "type": "recommended"
                },
                {
                    "name": "phkg2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55863",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QXS6-1",
            "evidence": [
                {
                    "id": "0111043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DB30-1",
            "uniprot_ac": "Q9DB30",
            "uniprot_id": "PHKG2_MOUSE",
            "refseq_ac": "NP_081164",
            "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 gamma catalytic chain, liver/testis isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.19",
                    "type": "synonym"
                },
                {
                    "name": "PHK-gamma-LT",
                    "type": "synonym"
                },
                {
                    "name": "PHK-gamma-T",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylase kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PHKG2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phkg2",
                    "type": "recommended"
                },
                {
                    "name": "1500017I02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Phkg2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DB30-1",
            "evidence": [
                {
                    "id": "0111043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15735-1",
            "uniprot_ac": "P15735",
            "uniprot_id": "PHKG2_HUMAN",
            "refseq_ac": "NP_000285",
            "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 gamma catalytic chain, liver/testis isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.19",
                    "type": "synonym"
                },
                {
                    "name": "PHK-gamma-LT",
                    "type": "synonym"
                },
                {
                    "name": "PHK-gamma-T",
                    "type": "synonym"
                },
                {
                    "name": "PSK-C3",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylase kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylase kinase, gamma 2 (testis/liver)",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase gamma catalytic chain, liver/testis isoform isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase gamma subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase, gamma 2 (testis)",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PHKG2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHKG2",
                    "type": "recommended"
                },
                {
                    "name": "GSD9C",
                    "type": "synonym"
                },
                {
                    "name": "PHKG2",
                    "type": "synonym"
                }
            ],
            "record_id": "P15735-1",
            "evidence": [
                {
                    "id": "613027",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613027"
                },
                {
                    "id": "0111043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31325-1",
            "uniprot_ac": "P31325",
            "uniprot_id": "PHKG2_RAT",
            "refseq_ac": "NP_542151",
            "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 gamma catalytic chain, liver/testis isoform",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.19",
                    "type": "synonym"
                },
                {
                    "name": "PHK-gamma-LT",
                    "type": "synonym"
                },
                {
                    "name": "PHK-gamma-T",
                    "type": "synonym"
                },
                {
                    "name": "Phosphorylase kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase b kinase gamma catalytic chain, liver/testis isoform",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase gamma subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase subunit gamma-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase, gamma 2 (testis)",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase PHKG2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Phkg2",
                    "type": "recommended"
                },
                {
                    "name": "Phkg2",
                    "type": "synonym"
                }
            ],
            "record_id": "P31325-1",
            "evidence": [
                {
                    "id": "0111043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111043"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9I7D0-1",
            "uniprot_ac": "Q9I7D0",
            "uniprot_id": "Q9I7D0_DROME",
            "refseq_ac": "NP_511129",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "phosphorylase kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.19",
                    "type": "synonym"
                },
                {
                    "name": "CG1830-PD",
                    "type": "synonym"
                },
                {
                    "name": "PhKgamma-PD",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase gamma, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "phosphorylase kinase gamma",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PhKgamma",
                    "type": "recommended"
                },
                {
                    "name": "CG1830",
                    "type": "synonym"
                },
                {
                    "name": "DPhK-gamma",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1830",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1830",
                    "type": "synonym"
                },
                {
                    "name": "EP779",
                    "type": "synonym"
                },
                {
                    "name": "ESTS:194B3T",
                    "type": "synonym"
                },
                {
                    "name": "PhKgamma",
                    "type": "synonym"
                },
                {
                    "name": "PhKg",
                    "type": "synonym"
                },
                {
                    "name": "Phkgamma",
                    "type": "synonym"
                },
                {
                    "name": "anon-sts6",
                    "type": "synonym"
                },
                {
                    "name": "phkgamma CES",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I7D0-1",
            "evidence": [
                {
                    "id": "0111043",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111043"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111043"
}