{
    "disease_id": "DOID:0111749",
    "recommended_name": {
        "id": "DOID:0111749",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111749",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 6",
        "description": "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33."
    },
    "synonyms": [
        {
            "id": "DOID:0111749",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111749",
            "name": "MC5DN6",
            "description": ""
        },
        {
            "id": "MONDO:0032869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032869",
            "name": "mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6",
            "description": ""
        },
        {
            "id": "MONDO:0032869",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032869",
            "name": "MC5DN6",
            "description": ""
        },
        {
            "id": "MIM:618683",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618683",
            "name": "Mitochondrial complex V deficiency, nuclear type 6",
            "description": "Mitochondrial complex V deficiency, nuclear type 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111749"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111749",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111749",
            "categories": []
        },
        {
            "id": "MONDO:0032869",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032869",
            "categories": []
        },
        {
            "id": "MIM:618683",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618683",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "H0WES8-1",
            "uniprot_ac": "H0WES8",
            "uniprot_id": "H0WES8_DANRE",
            "refseq_ac": "NP_001186962",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit DAPIT",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "diabetes- associated protein in insulin-sensitive tissue (DAPIT)",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp5md",
                    "type": "recommended"
                },
                {
                    "name": "USMG5",
                    "type": "synonym"
                },
                {
                    "name": "atp5md",
                    "type": "synonym"
                },
                {
                    "name": "atp5mk",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-80c12.10",
                    "type": "synonym"
                }
            ],
            "record_id": "H0WES8-1",
            "evidence": [
                {
                    "id": "0111749",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111749"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q78IK2-1",
            "uniprot_ac": "Q78IK2",
            "uniprot_id": "ATPMK_MOUSE",
            "refseq_ac": "NP_075700",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit DAPIT, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Diabetes-associated protein in insulin-sensitive tissues",
                    "type": "synonym"
                },
                {
                    "name": "Up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                },
                {
                    "name": "diabetes-associated protein in insulin-sensitive tissues",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                },
                {
                    "name": "upregulated during skeletal muscle growth 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5mk",
                    "type": "recommended"
                },
                {
                    "name": "2010301L15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Atp5md",
                    "type": "synonym"
                },
                {
                    "name": "Atp5mk",
                    "type": "synonym"
                },
                {
                    "name": "Dapit",
                    "type": "synonym"
                },
                {
                    "name": "Usmg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q78IK2-1",
            "evidence": [
                {
                    "id": "0111749",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111749"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96IX5-1",
            "uniprot_ac": "Q96IX5",
            "uniprot_id": "ATPMK_HUMAN",
            "refseq_ac": "NP_001193355",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit DAPIT, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Diabetes Associated Protein in Insulin-sensitive Tissues",
                    "type": "synonym"
                },
                {
                    "name": "Diabetes-associated protein in insulin-sensitive tissues",
                    "type": "synonym"
                },
                {
                    "name": "HCV F-transactivated protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                },
                {
                    "name": "diabetes-associated protein in insulin-sensitive tissues",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated during skeletal muscle growth 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                },
                {
                    "name": "upregulated during skeletal muscle growth 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5MK",
                    "type": "recommended"
                },
                {
                    "name": "AGP",
                    "type": "synonym"
                },
                {
                    "name": "ATP5MD",
                    "type": "synonym"
                },
                {
                    "name": "ATP5MK",
                    "type": "synonym"
                },
                {
                    "name": "DAPIT",
                    "type": "synonym"
                },
                {
                    "name": "HCVFTP2",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN6",
                    "type": "synonym"
                },
                {
                    "name": "PD04912",
                    "type": "synonym"
                },
                {
                    "name": "USMG5",
                    "type": "synonym"
                },
                {
                    "name": "bA792D24.4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96IX5-1",
            "evidence": [
                {
                    "id": "618683",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618683"
                },
                {
                    "id": "0111749",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111749"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJW3-1",
            "uniprot_ac": "Q9JJW3",
            "uniprot_id": "ATPMK_RAT",
            "refseq_ac": "NP_598228",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(0) complex subunit k, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit DAPIT, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase membrane subunit K, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "Diabetes-associated protein in insulin-sensitive tissues",
                    "type": "synonym"
                },
                {
                    "name": "Up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                },
                {
                    "name": "diabetes-associated protein in insulin-sensitive tissues",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated during skeletal muscle growth 5 homolog",
                    "type": "synonym"
                },
                {
                    "name": "up-regulated during skeletal muscle growth protein 5",
                    "type": "synonym"
                },
                {
                    "name": "upregulated during skeletal muscle growth 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5mk",
                    "type": "recommended"
                },
                {
                    "name": "Atp5md",
                    "type": "synonym"
                },
                {
                    "name": "Atp5mk",
                    "type": "synonym"
                },
                {
                    "name": "Dapit",
                    "type": "synonym"
                },
                {
                    "name": "Usmg5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJW3-1",
            "evidence": [
                {
                    "id": "0111749",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111749"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W2U8-1",
            "uniprot_ac": "Q9W2U8",
            "uniprot_id": "Q9W2U8_DROME",
            "refseq_ac": "NP_001259408",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15304-PB",
                    "type": "synonym"
                },
                {
                    "name": "Neb-cGP, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Neb-cGP, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Neb-cGP-PB",
                    "type": "synonym"
                },
                {
                    "name": "putative noncoding RNA 006:X",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Neb-cGP",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:RE31692",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:RH45340",
                    "type": "synonym"
                },
                {
                    "name": "CG15304",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15304",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15304",
                    "type": "synonym"
                },
                {
                    "name": "Neb-cGP",
                    "type": "synonym"
                },
                {
                    "name": "pncr006:X",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W2U8-1",
            "evidence": [
                {
                    "id": "0111749",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111749"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VR92-1",
            "uniprot_ac": "Q9VR92",
            "uniprot_id": "Q9VR92_DROME",
            "refseq_ac": "NP_608389",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG15459-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG15459",
                    "type": "recommended"
                },
                {
                    "name": "CG15459",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15459",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15459",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VR92-1",
            "evidence": [
                {
                    "id": "0111749",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111749"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111749"
}