{
    "disease_id": "DOID:0112147",
    "recommended_name": {
        "id": "DOID:0112147",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112147",
        "name": "retinitis pigmentosa 90",
        "description": "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112147",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112147",
            "name": "RP90",
            "description": ""
        },
        {
            "id": "MONDO:0033563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033563",
            "name": "retinitis pigmentosa 90",
            "description": ""
        },
        {
            "id": "MONDO:0033563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033563",
            "name": "RP90",
            "description": ""
        },
        {
            "id": "MIM:619007",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619007",
            "name": "Retinitis pigmentosa 90",
            "description": "Retinitis pigmentosa 90"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112147"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112147",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112147",
            "categories": []
        },
        {
            "id": "MONDO:0033563",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033563",
            "categories": []
        },
        {
            "id": "MIM:619007",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619007",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D6R2-1",
            "uniprot_ac": "Q9D6R2",
            "uniprot_id": "IDH3A_MOUSE",
            "refseq_ac": "NP_083849",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.41",
                    "type": "synonym"
                },
                {
                    "name": "Isocitric dehydrogenase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitric dehydrogenase subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh3a",
                    "type": "recommended"
                },
                {
                    "name": "1110003P10Rik",
                    "type": "synonym"
                },
                {
                    "name": "1500012E04Rik",
                    "type": "synonym"
                },
                {
                    "name": "Idh3a",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D6R2-1",
            "evidence": [
                {
                    "id": "0112147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P50213-1",
            "uniprot_ac": "P50213",
            "uniprot_id": "IDH3A_HUMAN",
            "refseq_ac": "NP_005521",
            "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 alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.41",
                    "type": "synonym"
                },
                {
                    "name": "H-IDH alpha",
                    "type": "synonym"
                },
                {
                    "name": "Isocitric dehydrogenase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "NAD(H)-specific isocitrate dehydrogenase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "NAD+-specific ICDH",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NAD(+)) 3 alpha",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase (NAD+) alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3 (NAD(+)) alpha",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3 (NAD+) alpha",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "isocitric dehydrogenase subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDH3A",
                    "type": "recommended"
                },
                {
                    "name": "IDH3A",
                    "type": "synonym"
                },
                {
                    "name": "RP90",
                    "type": "synonym"
                }
            ],
            "record_id": "P50213-1",
            "evidence": [
                {
                    "id": "619007",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619007"
                },
                {
                    "id": "0112147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28241-1",
            "uniprot_ac": "P28241",
            "uniprot_id": "IDH2_YEAST",
            "refseq_ac": "NP_014779",
            "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 2, 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(+)) IDH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "IDH2",
                    "type": "recommended"
                },
                {
                    "name": "IDH2",
                    "type": "synonym"
                },
                {
                    "name": "O3326",
                    "type": "synonym"
                },
                {
                    "name": "YOR3326W",
                    "type": "synonym"
                }
            ],
            "record_id": "P28241-1",
            "evidence": [
                {
                    "id": "0112147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99NA5-1",
            "uniprot_ac": "Q99NA5",
            "uniprot_id": "IDH3A_RAT",
            "refseq_ac": "",
            "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 alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.41",
                    "type": "synonym"
                },
                {
                    "name": "Isocitric dehydrogenase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh3a",
                    "type": "recommended"
                }
            ],
            "record_id": "Q99NA5-1",
            "evidence": [
                {
                    "id": "0112147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112147"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWH4-1",
            "uniprot_ac": "Q9VWH4",
            "uniprot_id": "IDH3A_DROME",
            "refseq_ac": "NP_001259705",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.1.1.41",
                    "type": "synonym"
                },
                {
                    "name": "CG12233-PD",
                    "type": "synonym"
                },
                {
                    "name": "Idh3a-PD",
                    "type": "synonym"
                },
                {
                    "name": "Isocitric dehydrogenase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "Lethal(1)G0156",
                    "type": "synonym"
                },
                {
                    "name": "NAD(+)-specific ICDH subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3a, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "isocitrate dehydrogenase 3a",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0156",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0156",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Idh3a",
                    "type": "recommended"
                },
                {
                    "name": "CG12233",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12233",
                    "type": "synonym"
                },
                {
                    "name": "IDH3A",
                    "type": "synonym"
                },
                {
                    "name": "Idh3a",
                    "type": "synonym"
                },
                {
                    "name": "dIDH3a",
                    "type": "synonym"
                },
                {
                    "name": "idh3a",
                    "type": "synonym"
                },
                {
                    "name": "l (1) G0156",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0156",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) G0156",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWH4-1",
            "evidence": [
                {
                    "id": "0112147",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112147"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112147"
}