{
    "disease_id": "DOID:0060363",
    "recommended_name": {
        "id": "DOID:0060363",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060363",
        "name": "glycerol kinase deficiency",
        "description": "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21."
    },
    "synonyms": [
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "inborn glycerol kinase deficiency",
            "description": "An acquired metabolic disease that has its basis in the disruption of glycerol kinase activity."
        },
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "glycerol kinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "glycerol kinase deficiency, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "inborn error of glycerol kinase activity",
            "description": ""
        },
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "inborn glycerol kinase activity disorder",
            "description": ""
        },
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "rare inborn error of glycerol kinase activity",
            "description": ""
        },
        {
            "id": "MONDO:0010613",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "name": "GKD",
            "description": ""
        },
        {
            "id": "MIM:307030",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/307030",
            "name": "Glycerol kinase deficiency",
            "description": "Glycerol kinase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060363"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060363",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060363",
            "categories": []
        },
        {
            "id": "MONDO:0010613",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010613",
            "categories": []
        },
        {
            "id": "MIM:307030",
            "database": "MIM",
            "url": "https://www.omim.org/entry/307030",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58J5W5-1",
            "uniprot_ac": "A0AC58J5W5",
            "uniprot_id": "A0AC58J5W5_DANRE",
            "refseq_ac": "XP_073801865",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "zgc:172295",
                    "type": "recommended"
                },
                {
                    "name": "zgc:172295",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58J5W5-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64516-3",
            "uniprot_ac": "Q64516",
            "uniprot_id": "GLPK_MOUSE",
            "refseq_ac": "NP_001281069",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase isoform 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gk",
                    "type": "recommended"
                },
                {
                    "name": "D930012N15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gk",
                    "type": "synonym"
                },
                {
                    "name": "Gyk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64516-3",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9WU65-1",
            "uniprot_ac": "Q9WU65",
            "uniprot_id": "GLPK2_MOUSE",
            "refseq_ac": "NP_034424",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GK 2",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glycerol kinase, testis specific 2",
                    "type": "synonym"
                },
                {
                    "name": "glucokinase activity, related sequence 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerokinase 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase, testis specific 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gk2",
                    "type": "recommended"
                },
                {
                    "name": "GKTA",
                    "type": "synonym"
                },
                {
                    "name": "Gk-rs2",
                    "type": "synonym"
                },
                {
                    "name": "Gk2",
                    "type": "synonym"
                },
                {
                    "name": "Gkrs2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WU65-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32189-3",
            "uniprot_ac": "P32189",
            "uniprot_id": "GLPK_HUMAN",
            "refseq_ac": "NP_000158",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GK",
                    "type": "recommended"
                },
                {
                    "name": "GK1",
                    "type": "synonym"
                },
                {
                    "name": "GKD",
                    "type": "synonym"
                },
                {
                    "name": "GK",
                    "type": "synonym"
                }
            ],
            "record_id": "P32189-3",
            "evidence": [
                {
                    "id": "307030",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/307030"
                },
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32190-1",
            "uniprot_ac": "P32190",
            "uniprot_id": "GLPK_YEAST",
            "refseq_ac": "NP_011831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "GK",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GUT1",
                    "type": "recommended"
                },
                {
                    "name": "GUT1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32190-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63060-1",
            "uniprot_ac": "Q63060",
            "uniprot_id": "GLPK_RAT",
            "refseq_ac": "NP_077357",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ASTP",
                    "type": "synonym"
                },
                {
                    "name": "ATP-stimulated glucocorticoid-receptor translocation promoter",
                    "type": "synonym"
                },
                {
                    "name": "ATP-stimulated glucocorticoid-receptor translocaton promoter",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gk",
                    "type": "recommended"
                },
                {
                    "name": "ASTP",
                    "type": "synonym"
                },
                {
                    "name": "Gk",
                    "type": "synonym"
                },
                {
                    "name": "Gyk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63060-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3Z8F7-1",
            "uniprot_ac": "D3Z8F7",
            "uniprot_id": "D3Z8F7_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": "glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gykl1",
                    "type": "recommended"
                }
            ],
            "record_id": "D3Z8F7-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F7FNM6-1",
            "uniprot_ac": "F7FNM6",
            "uniprot_id": "F7FNM6_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": "glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gk2",
                    "type": "recommended"
                }
            ],
            "record_id": "F7FNM6-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0U0-1",
            "uniprot_ac": "Q9W0U0",
            "uniprot_id": "Q9W0U0_DROME",
            "refseq_ac": "NP_524655",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG18374-PA",
                    "type": "synonym"
                },
                {
                    "name": "Gk1-PA",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gk1",
                    "type": "recommended"
                },
                {
                    "name": "CG18374",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18374",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18374",
                    "type": "synonym"
                },
                {
                    "name": "Gk1",
                    "type": "synonym"
                },
                {
                    "name": "Gyk",
                    "type": "synonym"
                },
                {
                    "name": "dGyk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0U0-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W095-1",
            "uniprot_ac": "Q9W095",
            "uniprot_id": "Q9W095_DROME",
            "refseq_ac": "NP_001286904",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "glycerol kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "CG7995-PF",
                    "type": "synonym"
                },
                {
                    "name": "Gk2-PF",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 2, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gk2",
                    "type": "recommended"
                },
                {
                    "name": "CG7995",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7995",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7995",
                    "type": "synonym"
                },
                {
                    "name": "GK2",
                    "type": "synonym"
                },
                {
                    "name": "Gk2",
                    "type": "synonym"
                },
                {
                    "name": "Gk",
                    "type": "synonym"
                },
                {
                    "name": "dGK",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W095-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14410-1",
            "uniprot_ac": "Q14410",
            "uniprot_id": "GLPK2_HUMAN",
            "refseq_ac": "NP_149991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GK 2",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Glycerol kinase, testis specific 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerokinase 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase pseudogene 2",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase testis specific 2",
                    "type": "synonym"
                },
                {
                    "name": "testis tissue sperm-binding protein Li 77m",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GK2",
                    "type": "recommended"
                },
                {
                    "name": "GK2",
                    "type": "synonym"
                },
                {
                    "name": "GKP2",
                    "type": "synonym"
                },
                {
                    "name": "GKTA",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14410-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14409-1",
            "uniprot_ac": "Q14409",
            "uniprot_id": "GLPK3_HUMAN",
            "refseq_ac": "NP_001382882",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycerol kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.30",
                    "type": "synonym"
                },
                {
                    "name": "ATP:glycerol 3-phosphotransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GK 3",
                    "type": "synonym"
                },
                {
                    "name": "Glycerokinase 3",
                    "type": "synonym"
                },
                {
                    "name": "Glycerol kinase 3 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "Glycerol kinase, testis specific 1",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 3 pseudogene",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase 3",
                    "type": "synonym"
                },
                {
                    "name": "glycerol kinase pseudogene 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GK3",
                    "type": "recommended"
                },
                {
                    "name": "GK3P",
                    "type": "synonym"
                },
                {
                    "name": "GK3",
                    "type": "synonym"
                },
                {
                    "name": "GKP3",
                    "type": "synonym"
                },
                {
                    "name": "GKTB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14409-1",
            "evidence": [
                {
                    "id": "0060363",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060363"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060363"
}