{
    "disease_id": "DOID:0070214",
    "recommended_name": {
        "id": "DOID:0070214",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070214",
        "name": "familial hyperinsulinemic hypoglycemia 7",
        "description": "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "name": "hyperinsulinism due to monocarboxylate transporter 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "name": "EIHI",
            "description": ""
        },
        {
            "id": "DOID:0070214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "name": "HHF7",
            "description": ""
        },
        {
            "id": "DOID:0070214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "name": "exercise-induced hyperinsulinemic hypoglycemia",
            "description": ""
        },
        {
            "id": "DOID:0070214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "name": "exercise-induced hyperinsulinism",
            "description": ""
        },
        {
            "id": "DOID:0070214",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "name": "hyperinsulinism due to SLC16A1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "exercise-induced hyperinsulinism",
            "description": "Exercise-induced hyperinsulinism (EIHI) is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI) characterized by episodes of hypoglycemia induced by exercise due to an inappropriate lactate and pyruvate sensitivity in pancreatic beta-cells."
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "EIHI",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "MCT1 hyperinsulinism",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "exercise-induced hyperinsulinemic hypoglycemia",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "hyperinsulinemic hypoglycemia, familial, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "hyperinsulinism due to SLC16A1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "hyperinsulinism due to monocarboxylate transporter 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "monocarboxylate transporter 1 hyperinsulinism",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "HHF7",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "exercise induced hyperinsulinemic hypoglycemia",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "hyperinsulinemic hypoglycemia exercise-induced",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "hyperinsulinemic hypoglycemia familial 7",
            "description": ""
        },
        {
            "id": "MONDO:0012396",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "name": "hyperinsulinemic hypoglycemia, familial, 7",
            "description": ""
        },
        {
            "id": "MIM:610021",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610021",
            "name": "Hyperinsulinemic hypoglycemia, familial, 7",
            "description": "Hyperinsulinemic hypoglycemia, familial, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070214"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070214",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070214",
            "categories": []
        },
        {
            "id": "MONDO:0012396",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012396",
            "categories": []
        },
        {
            "id": "MIM:610021",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610021",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F7B3-1",
            "uniprot_ac": "E7F7B3",
            "uniprot_id": "E7F7B3_DANRE",
            "refseq_ac": "XP_005172152",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 16 member 1",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc16a1a",
                    "type": "recommended"
                },
                {
                    "name": "mct1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-105j21.7",
                    "type": "synonym"
                },
                {
                    "name": "slc16a1a",
                    "type": "synonym"
                },
                {
                    "name": "slc16a1b",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F7B3-1",
            "evidence": [
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53986-1",
            "uniprot_ac": "P53986",
            "uniprot_id": "MOT1_MOUSE",
            "refseq_ac": "NP_033222",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 1",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc16a1",
                    "type": "recommended"
                },
                {
                    "name": "Mct1",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53986-1",
            "evidence": [
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53985-1",
            "uniprot_ac": "P53985",
            "uniprot_id": "MOT1_HUMAN",
            "refseq_ac": "NP_001159968",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 1",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC16A1",
                    "type": "recommended"
                },
                {
                    "name": "HHF7",
                    "type": "synonym"
                },
                {
                    "name": "MCT1D",
                    "type": "synonym"
                },
                {
                    "name": "MCT1",
                    "type": "synonym"
                },
                {
                    "name": "MCT",
                    "type": "synonym"
                },
                {
                    "name": "SLC16A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53985-1",
            "evidence": [
                {
                    "id": "610021",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610021"
                },
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17261-1",
            "uniprot_ac": "P17261",
            "uniprot_id": "ERS1_YEAST",
            "refseq_ac": "NP_010000",
            "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": "Cystine transporter",
                    "type": "recommended"
                },
                {
                    "name": "ERD suppressor",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein ERS1",
                    "type": "synonym"
                },
                {
                    "name": "cystinosin-like protein ERS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERS1",
                    "type": "recommended"
                },
                {
                    "name": "ERS1",
                    "type": "synonym"
                },
                {
                    "name": "YCR75C",
                    "type": "synonym"
                }
            ],
            "record_id": "P17261-1",
            "evidence": [
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53918-1",
            "uniprot_ac": "P53918",
            "uniprot_id": "ESBP6_YEAST",
            "refseq_ac": "NP_014274",
            "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": "Uncharacterized transporter ESBP6",
                    "type": "recommended"
                },
                {
                    "name": "Esbp6p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESBP6",
                    "type": "recommended"
                },
                {
                    "name": "ESBP6",
                    "type": "synonym"
                },
                {
                    "name": "MCH3",
                    "type": "synonym"
                },
                {
                    "name": "N1223",
                    "type": "synonym"
                },
                {
                    "name": "N1882",
                    "type": "synonym"
                }
            ],
            "record_id": "P53918-1",
            "evidence": [
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53987-1",
            "uniprot_ac": "P53987",
            "uniprot_id": "MOT1_RAT",
            "refseq_ac": "NP_036848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 1",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier 16 (monocarboxylic acid transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc16a1",
                    "type": "recommended"
                },
                {
                    "name": "MCT1",
                    "type": "synonym"
                },
                {
                    "name": "Mct1",
                    "type": "synonym"
                },
                {
                    "name": "RATMCT1",
                    "type": "synonym"
                },
                {
                    "name": "RNMCT1",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53987-1",
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                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W0L6-1",
            "uniprot_ac": "Q9W0L6",
            "uniprot_id": "Q9W0L6_DROME",
            "refseq_ac": "NP_001286894",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13907-PB",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13907",
                    "type": "recommended"
                },
                {
                    "name": "CG13907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13907",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W0L6-1",
            "evidence": [
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22607-1",
            "uniprot_ac": "P22607",
            "uniprot_id": "FGFR3_HUMAN",
            "refseq_ac": "NP_000133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 3-S",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyaryl-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase JTK4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGFR3",
                    "type": "recommended"
                },
                {
                    "name": "ACH",
                    "type": "synonym"
                },
                {
                    "name": "CD333",
                    "type": "synonym"
                },
                {
                    "name": "CEK2",
                    "type": "synonym"
                },
                {
                    "name": "FGFR3",
                    "type": "synonym"
                },
                {
                    "name": "HSFGFR3EX",
                    "type": "synonym"
                },
                {
                    "name": "JTK4",
                    "type": "synonym"
                }
            ],
            "record_id": "P22607-1",
            "evidence": [
                {
                    "id": "0070214",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070214"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070214"
}