{
    "disease_id": "DOID:0061107",
    "recommended_name": {
        "id": "DOID:0061107",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061107",
        "name": "retinitis pigmentosa 92",
        "description": "A retinitis pigmentosa characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life that has_material_basis_in homozygous mutation in the HKDC1 gene on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "DOID:0061107",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061107",
            "name": "RP92",
            "description": ""
        },
        {
            "id": "MONDO:0030619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030619",
            "name": "retinitis pigmentosa 92",
            "description": ""
        },
        {
            "id": "MONDO:0030619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030619",
            "name": "RP92",
            "description": ""
        },
        {
            "id": "MONDO:0030619",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030619",
            "name": "retinitis pigmentosa 92",
            "description": ""
        },
        {
            "id": "MIM:619614",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619614",
            "name": "Retinitis pigmentosa 92",
            "description": "Retinitis pigmentosa 92"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061107"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061107",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061107",
            "categories": []
        },
        {
            "id": "MONDO:0030619",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030619",
            "categories": []
        },
        {
            "id": "MIM:619614",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619614",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5H6-1",
            "uniprot_ac": "B8A5H6",
            "uniprot_id": "B8A5H6_DANRE",
            "refseq_ac": "NP_001108597",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Hexokinase-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "DrSHXK1",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type II",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase HKDC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hkdc1",
                    "type": "recommended"
                },
                {
                    "name": "cb370",
                    "type": "synonym"
                },
                {
                    "name": "hkdc1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb370",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91W97-1",
            "uniprot_ac": "Q91W97",
            "uniprot_id": "HKDC1_MOUSE",
            "refseq_ac": "NP_663394",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase HKDC1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase HKDC1",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase domain-containing protein 1",
                    "type": "synonym"
                },
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hkdc1",
                    "type": "recommended"
                },
                {
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                }
            ],
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                    "id": "0061107",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2TB90-1",
            "uniprot_ac": "Q2TB90",
            "uniprot_id": "HKDC1_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Hexokinase HKDC1",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "Hexokinase domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HKDC1",
                    "type": "recommended"
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            ],
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                },
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                    "id": "0061107",
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                }
            ]
        },
        {
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            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Hexokinase-1",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "Hexokinase PI",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-A",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HXK1",
                    "type": "recommended"
                },
                {
                    "name": "HKA",
                    "type": "synonym"
                },
                {
                    "name": "HXK1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0061107",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061107"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17709-1",
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            "refseq_ac": "NP_009890",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Glucokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "GLK-1",
                    "type": "synonym"
                },
                {
                    "name": "Glucose kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "glucokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GLK1",
                    "type": "recommended"
                },
                {
                    "name": "GLK1",
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                },
                {
                    "name": "HOR3",
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                },
                {
                    "name": "YCL312",
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                {
                    "name": "YCL40W",
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                }
            ],
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                {
                    "id": "0061107",
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            ]
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            "uniprot_canonical_ac": "Q04409-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                }
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                    "name": "Putative glucokinase-2",
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                    "name": "2.7.1.2",
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                },
                {
                    "name": "Early meiotic induction protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GLK-2",
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                },
                {
                    "name": "Glucose kinase 2",
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                {
                    "name": "putative glucokinase",
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            ],
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                    "name": "EMI2",
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                    "name": "D9719.21",
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                    "id": "0061107",
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                }
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                    "name": "Hexokinase-2",
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                    "name": "Hexokinase-B",
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                    "name": "hexokinase 2",
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                    "name": "HXK2",
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                    "name": "NRB486",
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                    "id": "0061107",
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                    "name": "Rattus norvegicus",
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                    "id": "0061107",
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                    "name": "Hex-t2-PA",
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                {
                    "name": "Hexokinase testis",
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                    "name": "hexokinase testis 2",
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                    "name": "hexokinase",
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            ],
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                    "name": "Hex-T",
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                    "name": "CG32849",
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                    "name": "CG5443",
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                    "name": "DHK-453",
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                    "name": "anon-WO0140519.203",
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                    "id": "0061107",
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                    "name": "Phosphotransferase",
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                    "name": "CG3001",
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                    "id": "0061107",
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                {
                    "name": "Inactive hexokinase-1",
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                    "name": "hexokinase testis 1",
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                    "name": "hexokinase",
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                }
            ],
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                    "name": "Hexl",
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                    "name": "CG33102",
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                    "name": "CG54430",
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                    "name": "DHK-465",
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                    "name": "Dmel\\CG33102",
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                    "name": "HK",
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                },
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                    "name": "Hex-T1",
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                    "name": "Hex-t1",
                    "type": "synonym"
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                    "name": "Hex",
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            ],
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                    "id": "0061107",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0061107"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061107"
}