{
    "disease_id": "DOID:0060569",
    "recommended_name": {
        "id": "DOID:0060569",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060569",
        "name": "hypertrichotic osteochondrodysplasia Cantu type",
        "description": "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly."
    },
    "synonyms": [
        {
            "id": "DOID:0060569",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060569",
            "name": "Cantu syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009406",
            "name": "hypertrichotic osteochondrodysplasia Cantu type",
            "description": "Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism."
        },
        {
            "id": "MONDO:0009406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009406",
            "name": "Cantu syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009406",
            "name": "hypertrichotic osteochondrodysplasia (Cantu syndrome)",
            "description": ""
        },
        {
            "id": "MONDO:0009406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009406",
            "name": "Craniofaciocardioskeletal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009406",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009406",
            "name": "hypertrichotic osteochondrodysplasia",
            "description": ""
        },
        {
            "id": "MIM:239850",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/239850",
            "name": "Hypertrichotic osteochondrodysplasia",
            "description": "Hypertrichotic osteochondrodysplasia"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060569"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060569",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060569",
            "categories": []
        },
        {
            "id": "MONDO:0009406",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009406",
            "categories": []
        },
        {
            "id": "MIM:239850",
            "database": "MIM",
            "url": "https://www.omim.org/entry/239850",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BBT3-1",
            "uniprot_ac": "A0A8M2BBT3",
            "uniprot_id": "A0A8M2BBT3_DANRE",
            "refseq_ac": "XP_005164758",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "ATP-binding cassette sub-family C member 9 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "abcc9",
                    "type": "recommended"
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                {
                    "name": "abcc9",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-183c2.3",
                    "type": "synonym"
                },
                {
                    "name": "sur2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060569",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060569"
                }
            ]
        },
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "ATP-sensitive inward rectifier potassium channel 8",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 8 isoform 1",
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                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 8",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir6.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 8",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir6.1",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifier K(+) channel Kir6.1",
                    "type": "synonym"
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                {
                    "name": "uKATP-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Kcnj8",
                    "type": "recommended"
                },
                {
                    "name": "Kcnj8",
                    "type": "synonym"
                },
                {
                    "name": "Kir6.1",
                    "type": "synonym"
                },
                {
                    "name": "gnite",
                    "type": "synonym"
                },
                {
                    "name": "slmbr",
                    "type": "synonym"
                },
                {
                    "name": "sltr",
                    "type": "synonym"
                },
                {
                    "name": "uKATP-1",
                    "type": "synonym"
                }
            ],
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                    "id": "0060569",
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            ]
        },
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                {
                    "name": "Mus musculus",
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                }
            ],
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                {
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                {
                    "name": "ATP-binding cassette sub-family C member 9 isoform d",
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                {
                    "name": "ATP-binding cassette transporter sub-family C member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9",
                    "type": "synonym"
                },
                {
                    "name": "Sulfonylurea receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea-binding protein 2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Abcc9",
                    "type": "recommended"
                },
                {
                    "name": "Abcc9",
                    "type": "synonym"
                },
                {
                    "name": "SUR2A",
                    "type": "synonym"
                },
                {
                    "name": "SUR2B",
                    "type": "synonym"
                },
                {
                    "name": "Sur2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060569",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60706-1",
            "uniprot_ac": "O60706",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family C member 9",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family C member 9 isoform SUR2A",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter sub-family C member 9",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9",
                    "type": "synonym"
                },
                {
                    "name": "Sulfonylurea receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "sulfonylurea receptor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCC9",
                    "type": "recommended"
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                    "name": "ABC37",
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                },
                {
                    "name": "ABCC9",
                    "type": "synonym"
                },
                {
                    "name": "ATFB12",
                    "type": "synonym"
                },
                {
                    "name": "CANTU",
                    "type": "synonym"
                },
                {
                    "name": "CMD1O",
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                },
                {
                    "name": "IDMYS",
                    "type": "synonym"
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                    "name": "SUR2",
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                }
            ],
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                },
                {
                    "id": "0060569",
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                }
            ]
        },
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            "uniprot_canonical_ac": "Q15842-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 8",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 8",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir6.1",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 8",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir6.1",
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                {
                    "name": "inwardly rectifying potassium channel KIR6.1",
                    "type": "synonym"
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                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 8",
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                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 8",
                    "type": "synonym"
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                {
                    "name": "uKATP-1",
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                }
            ],
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                {
                    "name": "KCNJ8",
                    "type": "recommended"
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                    "name": "KCNJ8",
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                },
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                    "name": "KIR6.1",
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                {
                    "name": "uKATP-1",
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                {
                    "id": "0060569",
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                }
            ]
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            "uniprot_canonical_ac": "P32386-1",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "ATP-dependent bile acid permease",
                    "type": "recommended"
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                {
                    "name": "bile acid-transporting ATPase YBT1",
                    "type": "synonym"
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                    "name": "YBT1",
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                    "name": "YBT1",
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                    "id": "0060569",
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            "uniprot_canonical_ac": "P38735-1",
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                }
            ],
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                {
                    "name": "ABC transporter ATP-binding protein/permease VMR1",
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                {
                    "name": "Vacuolar multidrug resistance protein 1",
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                    "name": "putative ATP-binding cassette multidrug transporter VMR1",
                    "type": "synonym"
                }
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                    "name": "VMR1",
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                    "id": "0060569",
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            "uniprot_canonical_ac": "Q63563-1",
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                {
                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "ATP-binding cassette sub-family C member 9",
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                {
                    "name": "ATP-binding cassette sub-family C member 9",
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                    "name": "ATP-binding cassette transporter sub-family C member 9",
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                {
                    "name": "ATP-binding cassette, sub-family C (CFTR/MRP), member 9",
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                    "name": "ATP-binding cassette, sub-family C, member 9-like",
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                    "name": "ATP-binding cassette, subfamily C (CFTR/MRP), member 9",
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                {
                    "name": "Sulfonylurea receptor 2",
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            ],
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                    "name": "Abcc9",
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                    "name": "Sur2",
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                    "id": "0060569",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                {
                    "name": "ATP-sensitive inward rectifier potassium channel 8",
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                    "name": "ATP-sensitive inward rectifier potassium channel 8",
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                {
                    "name": "Inward rectifier K(+) channel Kir6.1",
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                {
                    "name": "Inwardly rectifying potassium channel gene, subfamily J-8 (ATP sensitive)",
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                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 8",
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                    "name": "inward rectifier K(+) channel Kir6.1",
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                    "name": "inwardly rectifier K(+) channel Kir6.1",
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                    "name": "potassium channel, inwardly rectifying subfamily J member 8",
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                    "name": "potassium voltage-gated channel subfamily J member 8",
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                    "name": "uKATP-1",
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                    "name": "Kcnj8",
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                    "name": "Kcnj8",
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                    "name": "UKATP1",
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                    "name": "uKATP-1",
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                    "id": "0060569",
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                }
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "ATP-binding cassette sub-family C member Sur",
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                    "name": "CG5772-PC",
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                    "name": "Dsur",
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                    "name": "Sulfonylurea receptor",
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                },
                {
                    "name": "Sur-PC",
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                {
                    "name": "sulfonyl urea receptor",
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                },
                {
                    "name": "sulfonylurea receptor",
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                {
                    "name": "sulphonylurea receptor",
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                    "name": "Sur",
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                    "name": "CK00325",
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                    "name": "DSur",
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                    "name": "DmSUR",
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                {
                    "name": "Dmel\\CG5772",
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                },
                {
                    "name": "Dsur",
                    "type": "synonym"
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                    "name": "SUR",
                    "type": "synonym"
                },
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                    "name": "Sur",
                    "type": "synonym"
                },
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                    "name": "dSUR",
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                    "name": "dSur",
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                {
                    "name": "dsur",
                    "type": "synonym"
                },
                {
                    "name": "sur",
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                }
            ],
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                {
                    "id": "0060569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060569"
                }
            ]
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        {
            "uniprot_canonical_ac": "B7YZX2-1",
            "uniprot_ac": "B7YZX2",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "CG10369-PD",
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                },
                {
                    "name": "Inwardly rectifying potassium channel 3, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Irk3-PD",
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                },
                {
                    "name": "inwardly rectifying potassium channel 3, isoform D",
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                }
            ],
            "gene_names": [
                {
                    "name": "Irk3",
                    "type": "recommended"
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                {
                    "name": "CG10369",
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                },
                {
                    "name": "Dmel\\CG10369",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10369",
                    "type": "synonym"
                },
                {
                    "name": "Irk3",
                    "type": "synonym"
                },
                {
                    "name": "dIRK-3",
                    "type": "synonym"
                },
                {
                    "name": "dKirIII",
                    "type": "synonym"
                },
                {
                    "name": "irk3",
                    "type": "synonym"
                }
            ],
            "record_id": "B7YZX2-1",
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                {
                    "id": "0060569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KH86-1",
            "uniprot_ac": "A0A0B4KH86",
            "uniprot_id": "A0A0B4KH86_DROME",
            "refseq_ac": "NP_001262861",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG44159-PF",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "Inwardly rectifying potassium channel 1, isoform G",
                    "type": "synonym"
                },
                {
                    "name": "Irk1-PF",
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                },
                {
                    "name": "drosophila inward rectifier",
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                },
                {
                    "name": "inwardly rectifying potassium channel 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel",
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                }
            ],
            "gene_names": [
                {
                    "name": "Irk1",
                    "type": "recommended"
                },
                {
                    "name": "CG13836",
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                },
                {
                    "name": "CG44159",
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                },
                {
                    "name": "CG6747",
                    "type": "synonym"
                },
                {
                    "name": "DIR",
                    "type": "synonym"
                },
                {
                    "name": "Dir",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3R:100326",
                    "type": "synonym"
                },
                {
                    "name": "Dm_3R:100349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44159",
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                },
                {
                    "name": "Dmel_CG44159",
                    "type": "synonym"
                },
                {
                    "name": "Irk1",
                    "type": "synonym"
                },
                {
                    "name": "Ir",
                    "type": "synonym"
                },
                {
                    "name": "Kir1",
                    "type": "synonym"
                },
                {
                    "name": "dIRK",
                    "type": "synonym"
                },
                {
                    "name": "dKirI",
                    "type": "synonym"
                },
                {
                    "name": "irk1",
                    "type": "synonym"
                },
                {
                    "name": "ir",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KH86-1",
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                    "id": "0060569",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060569"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O00115-1",
            "uniprot_ac": "O00115",
            "uniprot_id": "DNS2A_HUMAN",
            "refseq_ac": "NP_001366",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Deoxyribonuclease-2-alpha",
                    "type": "recommended"
                },
                {
                    "name": "3.1.22.1",
                    "type": "synonym"
                },
                {
                    "name": "Acid DNase",
                    "type": "synonym"
                },
                {
                    "name": "DNase II alpha",
                    "type": "synonym"
                },
                {
                    "name": "DNase II, lysosomal",
                    "type": "synonym"
                },
                {
                    "name": "Deoxyribonuclease II alpha",
                    "type": "synonym"
                },
                {
                    "name": "Lysosomal DNase II",
                    "type": "synonym"
                },
                {
                    "name": "R31240_2",
                    "type": "synonym"
                },
                {
                    "name": "acid DNase",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease II alpha",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease II, lysosomal",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease-2-alpha precursor",
                    "type": "synonym"
                },
                {
                    "name": "deoxyribonuclease-2-alpha",
                    "type": "synonym"
                },
                {
                    "name": "lysosomal DNase II",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNASE2",
                    "type": "recommended"
                },
                {
                    "name": "AIPCS",
                    "type": "synonym"
                },
                {
                    "name": "DNASE2A",
                    "type": "synonym"
                },
                {
                    "name": "DNASE2",
                    "type": "synonym"
                },
                {
                    "name": "DNL2",
                    "type": "synonym"
                },
                {
                    "name": "DNL",
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                }
            ],
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                    "id": "0060569",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060569"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060569"
}