{
    "disease_id": "DOID:0110409",
    "recommended_name": {
        "id": "DOID:0110409",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110409",
        "name": "retinitis pigmentosa 46",
        "description": "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13."
    },
    "synonyms": [
        {
            "id": "DOID:0110409",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110409",
            "name": "RP46",
            "description": ""
        },
        {
            "id": "MONDO:0012943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "name": "retinitis pigmentosa 46",
            "description": "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene."
        },
        {
            "id": "MONDO:0012943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "name": "IDH3B retinitis pigmentosa",
            "description": ""
        },
        {
            "id": "MONDO:0012943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "name": "RP46",
            "description": ""
        },
        {
            "id": "MONDO:0012943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "name": "retinitis pigmentosa 46",
            "description": ""
        },
        {
            "id": "MONDO:0012943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "name": "retinitis pigmentosa caused by mutation in IDH3B",
            "description": ""
        },
        {
            "id": "MONDO:0012943",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "name": "retinitis pigmentosa type 46",
            "description": ""
        },
        {
            "id": "MIM:612572",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612572",
            "name": "Retinitis pigmentosa 46",
            "description": "Retinitis pigmentosa 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110409"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110409",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110409",
            "categories": []
        },
        {
            "id": "MONDO:0012943",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012943",
            "categories": []
        },
        {
            "id": "MIM:612572",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612572",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O43837-1",
            "uniprot_ac": "O43837",
            "uniprot_id": "IDH3B_HUMAN",
            "refseq_ac": "NP_001317692",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Isocitric dehydrogenase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NAD(+)) 3 beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3 (NAD(+)) beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3 (NAD+) beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform e precursor",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit beta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitric dehydrogenase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDH3B",
                    "type": "recommended"
                },
                {
                    "name": "IDH3B",
                    "type": "synonym"
                },
                {
                    "name": "RP46",
                    "type": "synonym"
                }
            ],
            "record_id": "O43837-1",
            "evidence": [
                {
                    "id": "612572",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612572"
                },
                {
                    "id": "0110409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28834-1",
            "uniprot_ac": "P28834",
            "uniprot_id": "IDH1_YEAST",
            "refseq_ac": "NP_014361",
            "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": "Isocitrate dehydrogenase [NAD] subunit 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.41",
                    "type": "synonym"
                },
                {
                    "name": "Isocitric dehydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NAD(+)) IDH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDH1",
                    "type": "recommended"
                },
                {
                    "name": "IDH1",
                    "type": "synonym"
                },
                {
                    "name": "N2690",
                    "type": "synonym"
                }
            ],
            "record_id": "P28834-1",
            "evidence": [
                {
                    "id": "0110409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q68FX0-1",
            "uniprot_ac": "Q68FX0",
            "uniprot_id": "IDH3B_RAT",
            "refseq_ac": "NP_446033",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitrate dehydrogenase [NAD] subunit beta, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Isocitric dehydrogenase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "NAD+-specific isocitrate dehydrogenase b subunit",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NAD(+)) 3 beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3 (NAD+) beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit beta, mitochondrial isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit beta, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitric dehydrogenase subunit beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh3B",
                    "type": "recommended"
                },
                {
                    "name": "Idh3b",
                    "type": "recommended"
                },
                {
                    "name": "Idh3b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q68FX0-1",
            "evidence": [
                {
                    "id": "0110409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110409"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VD58-1",
            "uniprot_ac": "Q9VD58",
            "uniprot_id": "Q9VD58_DROME",
            "refseq_ac": "NP_001163682",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitric dehydrogenase subunit beta",
                    "type": "recommended"
                },
                {
                    "name": "CG6439-PB",
                    "type": "synonym"
                },
                {
                    "name": "Idh3b-PB",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3b, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh3b",
                    "type": "recommended"
                },
                {
                    "name": "CG6439",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6439",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6439",
                    "type": "synonym"
                },
                {
                    "name": "IDH (CG6439)",
                    "type": "synonym"
                },
                {
                    "name": "Idh3b",
                    "type": "synonym"
                },
                {
                    "name": "Idh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VD58-1",
            "evidence": [
                {
                    "id": "0110409",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110409"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110409"
}