{
    "disease_id": "DOID:0111680",
    "recommended_name": {
        "id": "DOID:0111680",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111680",
        "name": "essential fructosuria",
        "description": "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "name": "fructokinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "name": "hepatic fructokinase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111680",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "name": "ketohexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "essential fructosuria",
            "description": "Essential fructosuria is a rare autosomal recessive disorder of fructose metabolism caused by a deficiency of fructokinaseenzyme activity. It is characterized by elevated fructosemia and presence of fructosuria following ingestion of fructose and related sugars (sucrose, sorbitol). Essential fructosuria is clinically asymptomatic and harmless. Dietary restriction is not indicated."
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "fructokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "fructosuria, essential",
            "description": ""
        },
        {
            "id": "MONDO:0009252",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "name": "ketohexokinase deficiency",
            "description": ""
        },
        {
            "id": "MIM:229800",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/229800",
            "name": "Fructosuria",
            "description": "Fructosuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111680"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111680",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111680",
            "categories": []
        },
        {
            "id": "MONDO:0009252",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009252",
            "categories": []
        },
        {
            "id": "MIM:229800",
            "database": "MIM",
            "url": "https://www.omim.org/entry/229800",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PE63-1",
            "uniprot_ac": "A0A8M9PE63",
            "uniprot_id": "A0A8M9PE63_DANRE",
            "refseq_ac": "XP_021322819",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketohexokinase isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "ketohexokinase isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "khk",
                    "type": "recommended"
                },
                {
                    "name": "khk",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj68h03",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92219",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92626",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PE63-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97328-1",
            "uniprot_ac": "P97328",
            "uniprot_id": "KHK_MOUSE",
            "refseq_ac": "NP_032465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketohexokinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Hepatic fructokinase",
                    "type": "synonym"
                },
                {
                    "name": "hepatic fructokinase",
                    "type": "synonym"
                },
                {
                    "name": "ketohexokinase isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Khk",
                    "type": "recommended"
                },
                {
                    "name": "Khk",
                    "type": "synonym"
                }
            ],
            "record_id": "P97328-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50053-1",
            "uniprot_ac": "P50053",
            "uniprot_id": "KHK_HUMAN",
            "refseq_ac": "NP_000212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketohexokinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Hepatic fructokinase",
                    "type": "synonym"
                },
                {
                    "name": "hepatic fructokinase",
                    "type": "synonym"
                },
                {
                    "name": "ketohexokinase isoform a",
                    "type": "synonym"
                },
                {
                    "name": "testicular tissue protein Li 102",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KHK",
                    "type": "recommended"
                },
                {
                    "name": "FRUCTU",
                    "type": "synonym"
                },
                {
                    "name": "KHK",
                    "type": "synonym"
                }
            ],
            "record_id": "P50053-1",
            "evidence": [
                {
                    "id": "229800",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/229800"
                },
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02974-1",
            "uniprot_ac": "Q02974",
            "uniprot_id": "KHK_RAT",
            "refseq_ac": "NP_114061",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ketohexokinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.3",
                    "type": "synonym"
                },
                {
                    "name": "Hepatic fructokinase",
                    "type": "synonym"
                },
                {
                    "name": "hepatic fructokinase",
                    "type": "synonym"
                },
                {
                    "name": "ketohexokinase isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Khk",
                    "type": "recommended"
                },
                {
                    "name": "KETHPRO",
                    "type": "synonym"
                },
                {
                    "name": "Khk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02974-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VTI3-1",
            "uniprot_ac": "Q9VTI3",
            "uniprot_id": "Q9VTI3_DROME",
            "refseq_ac": "NP_648465",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate kinase PfkB domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG12289-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Khkl2",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT04143",
                    "type": "synonym"
                },
                {
                    "name": "CG12289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12289",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12289",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VTI3-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW82-1",
            "uniprot_ac": "Q9VW82",
            "uniprot_id": "Q9VW82_DROME",
            "refseq_ac": "NP_649180",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate kinase PfkB domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7335-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Khkl1",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT09463",
                    "type": "synonym"
                },
                {
                    "name": "CG7335",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7335",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7335",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW82-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VW84-1",
            "uniprot_ac": "Q9VW84",
            "uniprot_id": "Q9VW84_DROME",
            "refseq_ac": "NP_649181",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carbohydrate kinase PfkB domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG7328-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Khk",
                    "type": "recommended"
                },
                {
                    "name": "CG7328",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7328",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7328",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VW84-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O43237-1",
            "uniprot_ac": "O43237",
            "uniprot_id": "DC1L2_HUMAN",
            "refseq_ac": "NP_001273086",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytoplasmic dynein 1 light intermediate chain 2",
                    "type": "recommended"
                },
                {
                    "name": "Dynein light intermediate chain 2, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "LIC-2",
                    "type": "synonym"
                },
                {
                    "name": "LIC53/55",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 1 light intermediate chain 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic dynein 1 light intermediate chain 2",
                    "type": "synonym"
                },
                {
                    "name": "dynein light intermediate chain 2, cytosolic",
                    "type": "synonym"
                },
                {
                    "name": "dynein, cytoplasmic, light intermediate polypeptide 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DYNC1LI2",
                    "type": "recommended"
                },
                {
                    "name": "DNCLI2",
                    "type": "synonym"
                },
                {
                    "name": "DYNC1LI2",
                    "type": "synonym"
                },
                {
                    "name": "LIC2",
                    "type": "synonym"
                }
            ],
            "record_id": "O43237-1",
            "evidence": [
                {
                    "id": "0111680",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111680"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111680"
}