{
    "disease_id": "DOID:0070218",
    "recommended_name": {
        "id": "DOID:0070218",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070218",
        "name": "familial hyperinsulinemic hypoglycemia 2",
        "description": "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070218",
            "name": "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia",
            "description": ""
        },
        {
            "id": "DOID:0070218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070218",
            "name": "HHF2",
            "description": ""
        },
        {
            "id": "DOID:0070218",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070218",
            "name": "Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "hyperinsulinemic hypoglycemia, familial, 2",
            "description": "Any hyperinsulinemic hypoglycemia in which the cause of the disease is a mutation in the KCNJ11 gene."
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "KCNJ11 hyperinsulinemic hypoglycemia (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "hyperinsulinemic hypoglycemia (disease) caused by mutation in KCNJ11",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "hyperinsulinemic hypoglycemia due to Kir6.2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "hyperinsulinemic hypoglycemia, familial, 2",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "hyperinsulinemic hypoglycemia, familial, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "HHF2",
            "description": ""
        },
        {
            "id": "MONDO:0011153",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "name": "hyperinsulinemic hypoglycemia familial 2",
            "description": ""
        },
        {
            "id": "MIM:601820",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601820",
            "name": "Hyperinsulinemic hypoglycemia, familial, 2",
            "description": "Hyperinsulinemic hypoglycemia, familial, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070218"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070218",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070218",
            "categories": []
        },
        {
            "id": "MONDO:0011153",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011153",
            "categories": []
        },
        {
            "id": "MIM:601820",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601820",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0070218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14654-1",
            "uniprot_ac": "Q14654",
            "uniprot_id": "KCJ11_HUMAN",
            "refseq_ac": "NP_001159762",
            "glycoprotein": "no",
            "species": [
                {
                    "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 11",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11",
                    "type": "synonym"
                },
                {
                    "name": "IKATP",
                    "type": "synonym"
                },
                {
                    "name": "Inward rectifier K(+) channel Kir6.2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium channel, inwardly rectifying subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "beta-cell inward rectifier subunit",
                    "type": "synonym"
                },
                {
                    "name": "inward rectifier K(+) channel Kir6.2",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifing potassium channel subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel KIR6.2",
                    "type": "synonym"
                },
                {
                    "name": "inwardly-rectifying potassium channel subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel inwardly rectifing subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNJ11",
                    "type": "recommended"
                },
                {
                    "name": "BIR",
                    "type": "synonym"
                },
                {
                    "name": "HHF2",
                    "type": "synonym"
                },
                {
                    "name": "IKATP",
                    "type": "synonym"
                },
                {
                    "name": "KCNJ11",
                    "type": "synonym"
                },
                {
                    "name": "KIR6.2",
                    "type": "synonym"
                },
                {
                    "name": "MODY13",
                    "type": "synonym"
                },
                {
                    "name": "PHHI",
                    "type": "synonym"
                },
                {
                    "name": "PNDM2",
                    "type": "synonym"
                },
                {
                    "name": "TNDM3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14654-1",
            "evidence": [
                {
                    "id": "601820",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601820"
                },
                {
                    "id": "0070218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070218"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70673-1",
            "uniprot_ac": "P70673",
            "uniprot_id": "KCJ11_RAT",
            "refseq_ac": "NP_112648",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11",
                    "type": "recommended"
                },
                {
                    "name": "ATP-sensitive inward rectifier potassium channel 11",
                    "type": "synonym"
                },
                {
                    "name": "BIR",
                    "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"
                },
                {
                    "name": "potassium channel, inwardly rectifying subfamily J member 11",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily J member 11",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcnj11",
                    "type": "recommended"
                },
                {
                    "name": "Kcnj11",
                    "type": "synonym"
                },
                {
                    "name": "Kir6.2",
                    "type": "synonym"
                }
            ],
            "record_id": "P70673-1",
            "evidence": [
                {
                    "id": "0070218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070218"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "drosophila inward rectifier",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "inwardly rectifying potassium channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Irk1",
                    "type": "recommended"
                },
                {
                    "name": "CG13836",
                    "type": "synonym"
                },
                {
                    "name": "CG44159",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "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",
            "evidence": [
                {
                    "id": "0070218",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070218"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070218"
}