{
    "disease_id": "DOID:0081328",
    "recommended_name": {
        "id": "DOID:0081328",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081328",
        "name": "familial hyperinsulinemic hypoglycemia 8",
        "description": "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0859362",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859362",
            "name": "hyperinsulinemic hypoglycemia, familial, 8",
            "description": ""
        },
        {
            "id": "MIM:620211",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620211",
            "name": "Hyperinsulinemic hypoglycemia, familial, 8",
            "description": "Hyperinsulinemic hypoglycemia, familial, 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081328"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081328",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081328",
            "categories": []
        },
        {
            "id": "MONDO:0859362",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859362",
            "categories": []
        },
        {
            "id": "MIM:620211",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620211",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DG32-1",
            "uniprot_ac": "Q6DG32",
            "uniprot_id": "S2536_DANRE",
            "refseq_ac": "NP_001002667",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 36-A",
                    "type": "recommended"
                },
                {
                    "name": "DKEYP-90G12.1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (pyrimidine nucleotide carrier), member 36a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 36-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a36a",
                    "type": "recommended"
                },
                {
                    "name": "si:dkeyp-90g12.1",
                    "type": "synonym"
                },
                {
                    "name": "slc25a36a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92447",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DG32-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X1WCX5-1",
            "uniprot_ac": "X1WCX5",
            "uniprot_id": "X1WCX5_DANRE",
            "refseq_ac": "XP_686599",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 36-A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 36-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a36b",
                    "type": "recommended"
                },
                {
                    "name": "slc25a36b",
                    "type": "synonym"
                }
            ],
            "record_id": "X1WCX5-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6P036-1",
            "uniprot_ac": "Q6P036",
            "uniprot_id": "S2533_DANRE",
            "refseq_ac": "NP_998322",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 33",
                    "type": "recommended"
                },
                {
                    "name": "mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (pyrimidine nucleotide carrier), member 33",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc25a33",
                    "type": "recommended"
                },
                {
                    "name": "slc25a33",
                    "type": "synonym"
                },
                {
                    "name": "wu:fe01d11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:65787",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77728",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P036-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q922G0-1",
            "uniprot_ac": "Q922G0",
            "uniprot_id": "S2536_MOUSE",
            "refseq_ac": "NP_620095",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 36",
                    "type": "recommended"
                },
                {
                    "name": "solute carrier family 25 member 36",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a36",
                    "type": "recommended"
                },
                {
                    "name": "C330005L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q922G0-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TZX3-1",
            "uniprot_ac": "Q3TZX3",
            "uniprot_id": "S2533_MOUSE",
            "refseq_ac": "NP_081736",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 33",
                    "type": "recommended"
                },
                {
                    "name": "novel mitochondrial carrier protein domains containing protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a33",
                    "type": "recommended"
                },
                {
                    "name": "5730438N18Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pnc1",
                    "type": "synonym"
                },
                {
                    "name": "Slc25a33",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TZX3-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96CQ1-1",
            "uniprot_ac": "Q96CQ1",
            "uniprot_id": "S2536_HUMAN",
            "refseq_ac": "NP_001098117",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 36",
                    "type": "recommended"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (pyrimidine nucleotide carrier), member 36",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 36 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A36",
                    "type": "recommended"
                },
                {
                    "name": "HHF8",
                    "type": "synonym"
                },
                {
                    "name": "PNC2",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A36",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96CQ1-1",
            "evidence": [
                {
                    "id": "620211",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620211"
                },
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38127-1",
            "uniprot_ac": "P38127",
            "uniprot_id": "RIM2_YEAST",
            "refseq_ac": "NP_009751",
            "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": "Mitochondrial pyrimidine nucleotide transporter RIM2",
                    "type": "recommended"
                },
                {
                    "name": "Replication in mitochondria protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Rim2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RIM2",
                    "type": "recommended"
                },
                {
                    "name": "PYT1",
                    "type": "synonym"
                },
                {
                    "name": "RIM2",
                    "type": "synonym"
                },
                {
                    "name": "YBR1402",
                    "type": "synonym"
                }
            ],
            "record_id": "P38127-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ACN9-1",
            "uniprot_ac": "D4ACN9",
            "uniprot_id": "D4ACN9_RAT",
            "refseq_ac": "NP_001414658",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 36",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (pyrimidine nucleotide carrier), member 36",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 36",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc25a36l1",
                    "type": "recommended"
                },
                {
                    "name": "Slc25a36",
                    "type": "recommended"
                },
                {
                    "name": "Slc25a36",
                    "type": "synonym"
                }
            ],
            "record_id": "D4ACN9-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ37-1",
            "uniprot_ac": "Q9VQ37",
            "uniprot_id": "RIM2_DROME",
            "refseq_ac": "NP_608615",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitochondrial carrier protein Rim2",
                    "type": "recommended"
                },
                {
                    "name": "CG18317-PA",
                    "type": "synonym"
                },
                {
                    "name": "Rim2 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Rim2-PA",
                    "type": "synonym"
                },
                {
                    "name": "replication in mitochondria 2, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rim2",
                    "type": "recommended"
                },
                {
                    "name": "CG18317",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18317",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18317",
                    "type": "synonym"
                },
                {
                    "name": "Rim2",
                    "type": "synonym"
                },
                {
                    "name": "drim2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ37-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BSK2-1",
            "uniprot_ac": "Q9BSK2",
            "uniprot_id": "S2533_HUMAN",
            "refseq_ac": "NP_115691",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 25 member 33",
                    "type": "recommended"
                },
                {
                    "name": "BMSC-MCP",
                    "type": "synonym"
                },
                {
                    "name": "Bone marrow stromal cell mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "HuBMSC-MCP",
                    "type": "synonym"
                },
                {
                    "name": "Protein PNC1",
                    "type": "synonym"
                },
                {
                    "name": "bone marrow stromal cell mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "huBMSC-MCP",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "novel mitochondrial carrier protein",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 (pyrimidine nucleotide carrier), member 33",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 25 member 33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC25A33",
                    "type": "recommended"
                },
                {
                    "name": "BMSC-MCP",
                    "type": "synonym"
                },
                {
                    "name": "PNC1",
                    "type": "synonym"
                },
                {
                    "name": "SLC25A33",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BSK2-1",
            "evidence": [
                {
                    "id": "0081328",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081328"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081328"
}