{
    "disease_id": "DOID:0060639",
    "recommended_name": {
        "id": "DOID:0060639",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060639",
        "name": "permanent neonatal diabetes mellitus",
        "description": "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene."
    },
    "synonyms": [
        {
            "id": "DOID:0060639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "name": "PDMI",
            "description": ""
        },
        {
            "id": "DOID:0060639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "name": "PNDM",
            "description": ""
        },
        {
            "id": "DOID:0060639",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "name": "permanent diabetes mellitus of infancy",
            "description": ""
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "permanent neonatal diabetes mellitus 1",
            "description": "A rare autosomal recessive disorder characterized by severe hyperglycemia which requires insulin treatment soon after birth. The disorder results from a complete lack of glucokinase; total absence of basal insulin release was observed as well."
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "PNDM1",
            "description": ""
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "diabetes mellitus, permanent neonatal 1",
            "description": ""
        },
        {
            "id": "MONDO:0100165",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "name": "PDMI",
            "description": ""
        },
        {
            "id": "MIM:606176",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606176",
            "name": "Diabetes mellitus, permanent neonatal, 1",
            "description": "Diabetes mellitus, permanent neonatal, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060639"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060639",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060639",
            "categories": []
        },
        {
            "id": "MONDO:0100165",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100165",
            "categories": []
        },
        {
            "id": "MIM:606176",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606176",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB32TDX1-1",
            "uniprot_ac": "A0AB32TDX1",
            "uniprot_id": "A0AB32TDX1_DANRE",
            "refseq_ac": "XP_068071075",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcc8b",
                    "type": "recommended"
                },
                {
                    "name": "abcc8b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32TDX1-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QMZ9-1",
            "uniprot_ac": "F1QMZ9",
            "uniprot_id": "F1QMZ9_DANRE",
            "refseq_ac": "XP_005170744",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 8 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcc8",
                    "type": "recommended"
                },
                {
                    "name": "abcc8",
                    "type": "synonym"
                },
                {
                    "name": "sur1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QMZ9-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0AB32T7F9-1",
            "uniprot_ac": "A0AB32T7F9",
            "uniprot_id": "A0AB32T7F9_DANRE",
            "refseq_ac": "XP_068069331",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin",
                    "type": "recommended"
                },
                {
                    "name": "preproinsulin b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "insb",
                    "type": "recommended"
                },
                {
                    "name": "insb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB32T7F9-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O73727-1",
            "uniprot_ac": "O73727",
            "uniprot_id": "INS_DANRE",
            "refseq_ac": "NP_571131",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin",
                    "type": "recommended"
                },
                {
                    "name": "insa",
                    "type": "synonym"
                },
                {
                    "name": "insulin preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ins",
                    "type": "recommended"
                },
                {
                    "name": "ins",
                    "type": "synonym"
                },
                {
                    "name": "zgc:109842",
                    "type": "synonym"
                }
            ],
            "record_id": "O73727-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1RC38-1",
            "uniprot_ac": "F1RC38",
            "uniprot_id": "F1RC38_DANRE",
            "refseq_ac": "NP_001038850",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphotransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.-",
                    "type": "synonym"
                },
                {
                    "name": "glucokinase (hexokinase 4, maturity onset diabetes of the young 2)",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gck",
                    "type": "recommended"
                },
                {
                    "name": "fb57f10",
                    "type": "synonym"
                },
                {
                    "name": "gck",
                    "type": "synonym"
                },
                {
                    "name": "glk",
                    "type": "synonym"
                },
                {
                    "name": "hex4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb57f10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153643",
                    "type": "synonym"
                }
            ],
            "record_id": "F1RC38-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61743-1",
            "uniprot_ac": "Q61743",
            "uniprot_id": "KCJ11_MOUSE",
            "refseq_ac": "NP_034732",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir6.2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir6.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj11",
                    "type": "recommended"
                },
                {
                    "name": "Kcnj11",
                    "type": "synonym"
                },
                {
                    "name": "Kir6.2",
                    "type": "synonym"
                },
                {
                    "name": "mBIR",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61743-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01326-1",
            "uniprot_ac": "P01326",
            "uniprot_id": "INS2_MOUSE",
            "refseq_ac": "NP_001172012",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-2",
                    "type": "recommended"
                },
                {
                    "name": "insulin-2 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-2",
                    "type": "synonym"
                },
                {
                    "name": "proinsulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ins2",
                    "type": "recommended"
                },
                {
                    "name": "Ins-2",
                    "type": "synonym"
                },
                {
                    "name": "Ins2",
                    "type": "synonym"
                },
                {
                    "name": "InsII",
                    "type": "synonym"
                },
                {
                    "name": "Mody4",
                    "type": "synonym"
                },
                {
                    "name": "Mody",
                    "type": "synonym"
                }
            ],
            "record_id": "P01326-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01325-1",
            "uniprot_ac": "P01325",
            "uniprot_id": "INS1_MOUSE",
            "refseq_ac": "NP_032412",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Insulin-1",
                    "type": "recommended"
                },
                {
                    "name": "insulin-1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "insulin-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ins1",
                    "type": "recommended"
                },
                {
                    "name": "Ins-1",
                    "type": "synonym"
                },
                {
                    "name": "Ins1",
                    "type": "synonym"
                },
                {
                    "name": "Ins2-rs1",
                    "type": "synonym"
                }
            ],
            "record_id": "P01325-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52792-1",
            "uniprot_ac": "P52792",
            "uniprot_id": "HXK4_MOUSE",
            "refseq_ac": "NP_001274315",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "Glucokinase",
                    "type": "synonym"
                },
                {
                    "name": "HK IV",
                    "type": "synonym"
                },
                {
                    "name": "HK4",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type IV",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-D",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type IV",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-4 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-4",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gck",
                    "type": "recommended"
                },
                {
                    "name": "GLK",
                    "type": "synonym"
                },
                {
                    "name": "Gck",
                    "type": "synonym"
                },
                {
                    "name": "Gk",
                    "type": "synonym"
                },
                {
                    "name": "Gls006",
                    "type": "synonym"
                },
                {
                    "name": "HK4",
                    "type": "synonym"
                },
                {
                    "name": "HKIV",
                    "type": "synonym"
                },
                {
                    "name": "HXKP",
                    "type": "synonym"
                },
                {
                    "name": "Hlb62",
                    "type": "synonym"
                },
                {
                    "name": "MODY2",
                    "type": "synonym"
                }
            ],
            "record_id": "P52792-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35557-1",
            "uniprot_ac": "P35557",
            "uniprot_id": "HXK4_HUMAN",
            "refseq_ac": "NP_000153",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hexokinase-4",
                    "type": "recommended"
                },
                {
                    "name": "2.7.1.1",
                    "type": "synonym"
                },
                {
                    "name": "ATP:D-hexose 6-phosphotransferase",
                    "type": "synonym"
                },
                {
                    "name": "Glucokinase",
                    "type": "synonym"
                },
                {
                    "name": "HK IV",
                    "type": "synonym"
                },
                {
                    "name": "HK4",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase type IV",
                    "type": "synonym"
                },
                {
                    "name": "Hexokinase-D",
                    "type": "synonym"
                },
                {
                    "name": "glucokinase (hexokinase 4)",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase D, pancreatic isozyme",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase type IV",
                    "type": "synonym"
                },
                {
                    "name": "hexokinase-4 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GCK",
                    "type": "recommended"
                },
                {
                    "name": "FGQTL3",
                    "type": "synonym"
                },
                {
                    "name": "GCK",
                    "type": "synonym"
                },
                {
                    "name": "GK",
                    "type": "synonym"
                },
                {
                    "name": "GLK",
                    "type": "synonym"
                },
                {
                    "name": "HHF3",
                    "type": "synonym"
                },
                {
                    "name": "HK4",
                    "type": "synonym"
                },
                {
                    "name": "HKIV",
                    "type": "synonym"
                },
                {
                    "name": "HXKP",
                    "type": "synonym"
                },
                {
                    "name": "LGLK",
                    "type": "synonym"
                },
                {
                    "name": "MODY2",
                    "type": "synonym"
                },
                {
                    "name": "PNDM1",
                    "type": "synonym"
                }
            ],
            "record_id": "P35557-1",
            "evidence": [
                {
                    "id": "606176",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606176"
                },
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38735-1",
            "uniprot_ac": "P38735",
            "uniprot_id": "VMR1_YEAST",
            "refseq_ac": "NP_011828",
            "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": "ABC transporter ATP-binding protein/permease VMR1",
                    "type": "recommended"
                },
                {
                    "name": "Vacuolar multidrug resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "putative ATP-binding cassette multidrug transporter VMR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMR1",
                    "type": "recommended"
                },
                {
                    "name": "VMR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P38735-1",
            "evidence": [
                {
                    "id": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "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": "0060639",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060639"
                }
            ]
        },
        {
            "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]"
                }
            ],
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}