{
    "disease_id": "DOID:0111502",
    "recommended_name": {
        "id": "DOID:0111502",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111502",
        "name": "combined oxidative phosphorylation deficiency 6",
        "description": "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6",
            "description": ""
        },
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "COXPD6",
            "description": ""
        },
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "Mitochondrial encephalomyopathy due to COXPD6",
            "description": ""
        },
        {
            "id": "DOID:0111502",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "name": "severe X-linked mitochondrial encephalomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "severe X-linked mitochondrial encephalomyopathy",
            "description": "Severe X-linked mitochondrial encephalomyopathy is an extremely rare mitochondrial respiratory chain disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting in the two patients reported to date."
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "combined oxidative phosphorylation deficiency 6, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "combined oxidative phosphorylation deficiency type 6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "mitochondrial encephalomyopathy due to COXPD6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "COXPD6",
            "description": ""
        },
        {
            "id": "MONDO:0010437",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "name": "combined oxidative phosphorylation deficiency 6",
            "description": ""
        },
        {
            "id": "MIM:300816",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300816",
            "name": "Combined oxidative phosphorylation deficiency 6",
            "description": "Combined oxidative phosphorylation deficiency 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111502"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111502",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111502",
            "categories": []
        },
        {
            "id": "MONDO:0010437",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010437",
            "categories": []
        },
        {
            "id": "MIM:300816",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300816",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9Z0X1-1",
            "uniprot_ac": "Q9Z0X1",
            "uniprot_id": "AIFM1_MOUSE",
            "refseq_ac": "NP_001277293",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Programmed cell death protein 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "harlequin",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aifm1",
                    "type": "recommended"
                },
                {
                    "name": "AIFsh2",
                    "type": "synonym"
                },
                {
                    "name": "AIF",
                    "type": "synonym"
                },
                {
                    "name": "Aifm1",
                    "type": "synonym"
                },
                {
                    "name": "Aif",
                    "type": "synonym"
                },
                {
                    "name": "Hq",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z0X1-1",
            "evidence": [
                {
                    "id": "0111502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95831-1",
            "uniprot_ac": "O95831",
            "uniprot_id": "AIFM1_HUMAN",
            "refseq_ac": "NP_001124318",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Programmed cell death protein 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial isoform AIFsh",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor, mitochondrion-associated, 1",
                    "type": "synonym"
                },
                {
                    "name": "auditory neuropathy, X-linked recessive 1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 8 (apoptosis-inducing factor)",
                    "type": "synonym"
                },
                {
                    "name": "striatal apoptosis-inducing factor",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIFM1",
                    "type": "recommended"
                },
                {
                    "name": "AIFM1",
                    "type": "synonym"
                },
                {
                    "name": "AIF",
                    "type": "synonym"
                },
                {
                    "name": "AUNX1",
                    "type": "synonym"
                },
                {
                    "name": "CMT2D",
                    "type": "synonym"
                },
                {
                    "name": "CMTX4",
                    "type": "synonym"
                },
                {
                    "name": "COWCK",
                    "type": "synonym"
                },
                {
                    "name": "COXPD6",
                    "type": "synonym"
                },
                {
                    "name": "DFNX5",
                    "type": "synonym"
                },
                {
                    "name": "NADMR",
                    "type": "synonym"
                },
                {
                    "name": "NAMSD",
                    "type": "synonym"
                },
                {
                    "name": "PDCD8",
                    "type": "synonym"
                },
                {
                    "name": "SEMDHL",
                    "type": "synonym"
                }
            ],
            "record_id": "O95831-1",
            "evidence": [
                {
                    "id": "300816",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300816"
                },
                {
                    "id": "0111502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JM53-1",
            "uniprot_ac": "Q9JM53",
            "uniprot_id": "AIFM1_RAT",
            "refseq_ac": "NP_112646",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "Programmed cell death protein 8",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial-like",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor 1, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis-inducing factor, mitochondrion-associated 1",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death 8 (apoptosis-inducing factor)",
                    "type": "synonym"
                },
                {
                    "name": "programmed cell death protein 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Aifm1",
                    "type": "recommended"
                },
                {
                    "name": "Aifm1",
                    "type": "synonym"
                },
                {
                    "name": "Aif",
                    "type": "synonym"
                },
                {
                    "name": "Pdcd8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JM53-1",
            "evidence": [
                {
                    "id": "0111502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111502"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQ79-2",
            "uniprot_ac": "Q9VQ79",
            "uniprot_id": "AIFM1_DROME",
            "refseq_ac": "NP_608649",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative apoptosis-inducing factor 1, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "1.6.99.-",
                    "type": "synonym"
                },
                {
                    "name": "AIF-PA",
                    "type": "synonym"
                },
                {
                    "name": "CG7263-PA",
                    "type": "synonym"
                },
                {
                    "name": "DmAIF",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis inducing factor, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "apoptosis inducing factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AIF",
                    "type": "recommended"
                },
                {
                    "name": "AIF",
                    "type": "synonym"
                },
                {
                    "name": "CG7263",
                    "type": "synonym"
                },
                {
                    "name": "DmAIF",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7263",
                    "type": "synonym"
                },
                {
                    "name": "SD03428p",
                    "type": "synonym"
                },
                {
                    "name": "aif",
                    "type": "synonym"
                },
                {
                    "name": "dAIF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQ79-2",
            "evidence": [
                {
                    "id": "0111502",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111502"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111502"
}