{
    "disease_id": "DOID:0110630",
    "recommended_name": {
        "id": "DOID:0110630",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110630",
        "name": "Wolfram syndrome 2",
        "description": "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24."
    },
    "synonyms": [
        {
            "id": "DOID:0110630",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110630",
            "name": "WFS2",
            "description": ""
        },
        {
            "id": "MONDO:0011502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "name": "Wolfram syndrome 2",
            "description": "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene."
        },
        {
            "id": "MONDO:0011502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "name": "CISD2 Wolfram syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "name": "WFS2",
            "description": ""
        },
        {
            "id": "MONDO:0011502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "name": "Wolfram syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0011502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "name": "Wolfram syndrome caused by mutation in CISD2",
            "description": ""
        },
        {
            "id": "MONDO:0011502",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "name": "Wolfram syndrome type 2",
            "description": ""
        },
        {
            "id": "MIM:604928",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604928",
            "name": "Wolfram syndrome 2",
            "description": "Wolfram syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110630"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110630",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110630",
            "categories": []
        },
        {
            "id": "MONDO:0011502",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011502",
            "categories": []
        },
        {
            "id": "MIM:604928",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604928",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7T326-1",
            "uniprot_ac": "Q7T326",
            "uniprot_id": "CISD2_DANRE",
            "refseq_ac": "NP_956677",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cisd2",
                    "type": "recommended"
                },
                {
                    "name": "cisd2",
                    "type": "synonym"
                },
                {
                    "name": "dkey-162b23.1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64148",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7T326-1",
            "evidence": [
                {
                    "id": "0110630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQB5-1",
            "uniprot_ac": "Q9CQB5",
            "uniprot_id": "CISD2_MOUSE",
            "refseq_ac": "NP_080178",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Miner1",
                    "type": "synonym"
                },
                {
                    "name": "MitoNEET-related 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Nervous system overexpressed protein 70",
                    "type": "synonym"
                },
                {
                    "name": "mitoNEET-related 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nervous system over-expressed protein 70",
                    "type": "synonym"
                },
                {
                    "name": "nervous system overexpressed protein 70",
                    "type": "synonym"
                },
                {
                    "name": "nutrient-deprivation autophagy factor-1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, CDGSH-type domain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cisd2",
                    "type": "recommended"
                },
                {
                    "name": "1500009M05Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500026J14Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500031D15Rik",
                    "type": "synonym"
                },
                {
                    "name": "B630006A20Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cdgsh2",
                    "type": "synonym"
                },
                {
                    "name": "Cisd2",
                    "type": "synonym"
                },
                {
                    "name": "Miner1",
                    "type": "synonym"
                },
                {
                    "name": "Naf-1",
                    "type": "synonym"
                },
                {
                    "name": "Noxp70",
                    "type": "synonym"
                },
                {
                    "name": "Zcd2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQB5-1",
            "evidence": [
                {
                    "id": "0110630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N5K1-1",
            "uniprot_ac": "Q8N5K1",
            "uniprot_id": "CISD2_HUMAN",
            "refseq_ac": "NP_001008389",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum intermembrane small protein",
                    "type": "synonym"
                },
                {
                    "name": "Miner1",
                    "type": "synonym"
                },
                {
                    "name": "MitoNEET-related 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "NAF-1",
                    "type": "synonym"
                },
                {
                    "name": "Nutrient-deprivation autophagy factor-1",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum intermembrane small protein",
                    "type": "synonym"
                },
                {
                    "name": "mitoNEET-related 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "nutrient-deprivation autophagy factor-1",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger, CDGSH-type domain 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CISD2",
                    "type": "recommended"
                },
                {
                    "name": "CDGSH2",
                    "type": "synonym"
                },
                {
                    "name": "CISD2",
                    "type": "synonym"
                },
                {
                    "name": "ERIS",
                    "type": "synonym"
                },
                {
                    "name": "Miner1",
                    "type": "synonym"
                },
                {
                    "name": "NAF-1",
                    "type": "synonym"
                },
                {
                    "name": "WFS2",
                    "type": "synonym"
                },
                {
                    "name": "ZCD2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N5K1-1",
            "evidence": [
                {
                    "id": "604928",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604928"
                },
                {
                    "id": "0110630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LB68-1",
            "uniprot_ac": "A0ABK0LB68",
            "uniprot_id": "A0ABK0LB68_RAT",
            "refseq_ac": "NP_001178537",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "CDGSH iron-sulfur domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cisd2",
                    "type": "recommended"
                },
                {
                    "name": "Cisd2",
                    "type": "synonym"
                },
                {
                    "name": "RGD1566242",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LB68-1",
            "evidence": [
                {
                    "id": "0110630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110630"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAM6-1",
            "uniprot_ac": "Q9VAM6",
            "uniprot_id": "CISD2_DROME",
            "refseq_ac": "NP_651684",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CDGSH iron-sulfur domain protein",
                    "type": "recommended"
                },
                {
                    "name": "CDGSH iron sulfur domain 2",
                    "type": "synonym"
                },
                {
                    "name": "CDGSH iron-sulfur domain-containing protein-2 homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG1458-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cisd2-PA",
                    "type": "synonym"
                },
                {
                    "name": "downsizing mitochondria",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cisd",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE49709",
                    "type": "synonym"
                },
                {
                    "name": "CG1458",
                    "type": "synonym"
                },
                {
                    "name": "Cisd2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1458",
                    "type": "synonym"
                },
                {
                    "name": "Dosmit",
                    "type": "synonym"
                },
                {
                    "name": "Dsm",
                    "type": "synonym"
                },
                {
                    "name": "MitoNEET",
                    "type": "synonym"
                },
                {
                    "name": "cisd2",
                    "type": "synonym"
                },
                {
                    "name": "dWFS2",
                    "type": "synonym"
                },
                {
                    "name": "mitoNEET",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAM6-1",
            "evidence": [
                {
                    "id": "0110630",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110630"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110630"
}