{
    "disease_id": "DOID:0080761",
    "recommended_name": {
        "id": "DOID:0080761",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080761",
        "name": "Fanconi renotubular syndrome 5",
        "description": "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080761",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080761",
            "name": "Acadian-variant Fanconi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0030056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030056",
            "name": "Fanconi renotubular syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0030056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030056",
            "name": "FANCONI RENOTUBULAR SYNDROME 5",
            "description": ""
        },
        {
            "id": "MONDO:0030056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030056",
            "name": "FRTS5",
            "description": ""
        },
        {
            "id": "MONDO:0030056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030056",
            "name": "Fanconi Renotubular Syndrome, Acadian Variant",
            "description": ""
        },
        {
            "id": "MONDO:0030056",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030056",
            "name": "Fanconi renotubular syndrome 5",
            "description": ""
        },
        {
            "id": "MIM:618913",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618913",
            "name": "Fanconi renotubular syndrome 5",
            "description": "Fanconi renotubular syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080761"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080761",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080761",
            "categories": []
        },
        {
            "id": "MONDO:0030056",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030056",
            "categories": []
        },
        {
            "id": "MIM:618913",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618913",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9P823-1",
            "uniprot_ac": "A0A8M9P823",
            "uniprot_id": "A0A8M9P823_DANRE",
            "refseq_ac": "XP_021322453",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ndufaf6",
                    "type": "recommended"
                },
                {
                    "name": "ndufaf6",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P823-1",
            "evidence": [
                {
                    "id": "0080761",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080761"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AIL4-1",
            "uniprot_ac": "A2AIL4",
            "uniprot_id": "NDUF6_MOUSE",
            "refseq_ac": "NP_001078962",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "synonym"
                },
                {
                    "name": "UPF0551 protein C8orf38 homolog, mitochondrial",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf6",
                    "type": "recommended"
                },
                {
                    "name": "2310030N02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ndufaf6",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AIL4-1",
            "evidence": [
                {
                    "id": "0080761",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080761"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q330K2-1",
            "uniprot_ac": "Q330K2",
            "uniprot_id": "NDUF6_HUMAN",
            "refseq_ac": "NP_001317511",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "synonym"
                },
                {
                    "name": "Putative phytoene synthase",
                    "type": "synonym"
                },
                {
                    "name": "UPF0551 protein C8orf38, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "long non-coding RNA REplication STress",
                    "type": "synonym"
                },
                {
                    "name": "putative phytoene synthase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NDUFAF6",
                    "type": "recommended"
                },
                {
                    "name": "C8orf38",
                    "type": "synonym"
                },
                {
                    "name": "FRTS5",
                    "type": "synonym"
                },
                {
                    "name": "MC1DN17",
                    "type": "synonym"
                },
                {
                    "name": "NDUFAF6",
                    "type": "synonym"
                },
                {
                    "name": "lncREST",
                    "type": "synonym"
                }
            ],
            "record_id": "Q330K2-1",
            "evidence": [
                {
                    "id": "618913",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618913"
                },
                {
                    "id": "0080761",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080761"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZN43-1",
            "uniprot_ac": "D3ZN43",
            "uniprot_id": "NDUF6_RAT",
            "refseq_ac": "NP_001263370",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "recommended"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 precursor",
                    "type": "synonym"
                },
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ndufaf6",
                    "type": "recommended"
                },
                {
                    "name": "Ndufaf6",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309085",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZN43-1",
            "evidence": [
                {
                    "id": "0080761",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080761"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VYS5-1",
            "uniprot_ac": "Q9VYS5",
            "uniprot_id": "NDUF6_DROME",
            "refseq_ac": "NP_001285142",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "NADH dehydrogenase (ubiquinone) complex I, assembly factor 6 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG15738-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein severe impairment of CI with lengthened youth",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF6",
                    "type": "synonym"
                },
                {
                    "name": "severe impairment of CI with lengthened youth, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "sicily-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sicily",
                    "type": "recommended"
                },
                {
                    "name": "CG15738",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15738",
                    "type": "synonym"
                },
                {
                    "name": "Sicily",
                    "type": "synonym"
                },
                {
                    "name": "XE07",
                    "type": "synonym"
                },
                {
                    "name": "dNDUFAF6",
                    "type": "synonym"
                },
                {
                    "name": "sicily",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VYS5-1",
            "evidence": [
                {
                    "id": "0080761",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080761"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080761"
}