{
    "disease_id": "DOID:0051006",
    "recommended_name": {
        "id": "DOID:0051006",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051006",
        "name": "congenital nonspherocytic hemolytic anemia 5",
        "description": "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the HK1 gene, which encodes a form of hexokinase, on chromosome 10q22."
    },
    "synonyms": [
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "non-spherocytic hemolytic anemia due to hexokinase deficiency",
            "description": "Nonspherocytic hemolytic anemia due to hexokinase deficiency (NSHA due to HK1 deficiency) is a very rare conditionmainly characterized by severe, chronic hemolysis, beginning in infancy. Approximately 20 cases of this condition have been described to date. Signs and symptoms of hexokinase deficiency are very similar to those of pyruvate kinase deficiency but anemia is generally more severe. Some affected individuals reportedly have had various abnormalities in addition to NSHA including multiple malformations, panmyelopathy, and latent diabetes.Itcan be caused by mutations in the HK1 gene and is inherited in an autosomal recessive manner. Treatment may include red cell transfusions for those with severe anemia."
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "anemia, congenital, nonspherocytic hemolytic, 5, hexokinase deficient",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "hemolytic anaemia due to hexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "hemolytic anemia due to hexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "hemolytic anemia, nonspherocytic, due to hexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "nonspherocytic hemolytic anaemia due to hexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "nonspherocytic hemolytic anemia due to hexokinase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "hexokinase deficiency hemolytic anaemia",
            "description": ""
        },
        {
            "id": "MONDO:0009340",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "name": "hexokinase deficiency hemolytic anemia",
            "description": ""
        },
        {
            "id": "MIM:235700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/235700",
            "name": "Anemia, congenital, non-spherocytic hemolytic, 5",
            "description": "Anemia, congenital, non-spherocytic hemolytic, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051006"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051006",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051006",
            "categories": []
        },
        {
            "id": "MONDO:0009340",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009340",
            "categories": []
        },
        {
            "id": "MIM:235700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/235700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P17710-1",
            "uniprot_ac": "P17710",
            "uniprot_id": "HXK1_MOUSE",
            "refseq_ac": "NP_034568",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "HK I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase, tumor isozyme",
                    "type": "synonym"
                },
                {
                    "name": "downeast anemia",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase, tumor isozyme",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-1 isoform HK1-sb",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hk1",
                    "type": "recommended"
                },
                {
                    "name": "Hk-1",
                    "type": "synonym"
                },
                {
                    "name": "Hk1-s",
                    "type": "synonym"
                },
                {
                    "name": "Hk1",
                    "type": "synonym"
                },
                {
                    "name": "dea",
                    "type": "synonym"
                },
                {
                    "name": "mHk1-s",
                    "type": "synonym"
                }
            ],
            "record_id": "P17710-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P19367-1",
            "uniprot_ac": "P19367",
            "uniprot_id": "HXK1_HUMAN",
            "refseq_ac": "NP_000179",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Brain form hexokinase",
                    "type": "synonym"
                },
                {
                    "name": "HK I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-A",
                    "type": "synonym"
                },
                {
                    "name": "Neuropathy, hereditary motor and sensory, Russe type",
                    "type": "synonym"
                },
                {
                    "name": "brain form hexokinase",
                    "type": "synonym"
                },
                {
                    "name": "glycolytic enzyme",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase IR",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-1 isoform HKI",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HK1",
                    "type": "recommended"
                },
                {
                    "name": "CNSHA5",
                    "type": "synonym"
                },
                {
                    "name": "HK1-ta",
                    "type": "synonym"
                },
                {
                    "name": "HK1-tb",
                    "type": "synonym"
                },
                {
                    "name": "HK1-tc",
                    "type": "synonym"
                },
                {
                    "name": "HK1",
                    "type": "synonym"
                },
                {
                    "name": "HKD",
                    "type": "synonym"
                },
                {
                    "name": "HKI",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "HMSNR",
                    "type": "synonym"
                },
                {
                    "name": "HXK1",
                    "type": "synonym"
                },
                {
                    "name": "NEDVIBA",
                    "type": "synonym"
                },
                {
                    "name": "NMSR",
                    "type": "synonym"
                },
                {
                    "name": "RP79",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
            "record_id": "P19367-1",
            "evidence": [
                {
                    "id": "235700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/235700"
                },
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04409-1",
            "uniprot_ac": "Q04409",
            "uniprot_id": "EMI2_YEAST",
            "refseq_ac": "NP_010804",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative glucokinase-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.2",
                    "type": "synonym"
                },
                {
                    "name": "Early meiotic induction protein 2",
                    "type": "synonym"
                },
                {
                    "name": "GLK-2",
                    "type": "synonym"
                },
                {
                    "name": "Glucose kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "putative glucokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EMI2",
                    "type": "recommended"
                },
                {
                    "name": "D9719.21",
                    "type": "synonym"
                },
                {
                    "name": "EMI2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04409-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04807-1",
            "uniprot_ac": "P04807",
            "uniprot_id": "HXKB_YEAST",
            "refseq_ac": "NP_011261",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase PII",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-B",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HXK2",
                    "type": "recommended"
                },
                {
                    "name": "HEX1",
                    "type": "synonym"
                },
                {
                    "name": "HKB",
                    "type": "synonym"
                },
                {
                    "name": "HXK2",
                    "type": "synonym"
                },
                {
                    "name": "NRB486",
                    "type": "synonym"
                },
                {
                    "name": "SCI2",
                    "type": "synonym"
                }
            ],
            "record_id": "P04807-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17709-1",
            "uniprot_ac": "P17709",
            "uniprot_id": "HXKG_YEAST",
            "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]"
                }
            ],
            "protein_names": [
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "HOR3",
                    "type": "synonym"
                },
                {
                    "name": "YCL312",
                    "type": "synonym"
                },
                {
                    "name": "YCL40W",
                    "type": "synonym"
                }
            ],
            "record_id": "P17709-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04806-1",
            "uniprot_ac": "P04806",
            "uniprot_id": "HXKA_YEAST",
            "refseq_ac": "NP_116711",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "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"
                }
            ],
            "record_id": "P04806-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06204-1",
            "uniprot_ac": "Q06204",
            "uniprot_id": "NGK1_YEAST",
            "refseq_ac": "NP_013551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-acetylglucosamine kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.59",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NGK1",
                    "type": "recommended"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06204-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05708-1",
            "uniprot_ac": "P05708",
            "uniprot_id": "HXK1_RAT",
            "refseq_ac": "NP_036866",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Brain form hexokinase",
                    "type": "synonym"
                },
                {
                    "name": "HK I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-A",
                    "type": "synonym"
                },
                {
                    "name": "brain form hexokinase",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type I",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hk1",
                    "type": "recommended"
                },
                {
                    "name": "HEXOKIN",
                    "type": "synonym"
                },
                {
                    "name": "HKI",
                    "type": "synonym"
                },
                {
                    "name": "Hk1",
                    "type": "synonym"
                }
            ],
            "record_id": "P05708-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NFT7-1",
            "uniprot_ac": "Q9NFT7",
            "uniprot_id": "HXK2_DROME",
            "refseq_ac": "NP_733151",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "CG32849-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hex-t2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase testis",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase testis 2",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hex-T",
                    "type": "recommended"
                },
                {
                    "name": "CG32849",
                    "type": "synonym"
                },
                {
                    "name": "CG5443",
                    "type": "synonym"
                },
                {
                    "name": "DHK-453",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32849",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "Hex-T2",
                    "type": "synonym"
                },
                {
                    "name": "Hex-t2",
                    "type": "synonym"
                },
                {
                    "name": "Hex",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.203",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NFT7-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W330-1",
            "uniprot_ac": "Q9W330",
            "uniprot_id": "Q9W330_DROME",
            "refseq_ac": "NP_524848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG3001-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hex-A-PA",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase A, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase A",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-A",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific hexokinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hex-A",
                    "type": "recommended"
                },
                {
                    "name": "B",
                    "type": "synonym"
                },
                {
                    "name": "CG3001",
                    "type": "synonym"
                },
                {
                    "name": "DM1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3001",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3001",
                    "type": "synonym"
                },
                {
                    "name": "HEX-A",
                    "type": "synonym"
                },
                {
                    "name": "HEX",
                    "type": "synonym"
                },
                {
                    "name": "HK-A",
                    "type": "synonym"
                },
                {
                    "name": "HK",
                    "type": "synonym"
                },
                {
                    "name": "Hex-A:B",
                    "type": "synonym"
                },
                {
                    "name": "Hex-A",
                    "type": "synonym"
                },
                {
                    "name": "HexA",
                    "type": "synonym"
                },
                {
                    "name": "Hex",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W330-1",
            "evidence": [
                {
                    "id": "0051006",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051006"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051006"
}