{
    "disease_id": "DOID:0070461",
    "recommended_name": {
        "id": "DOID:0070461",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070461",
        "name": "mitochondrial complex V (ATP synthase) deficiency nuclear type 4A",
        "description": "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance."
    },
    "synonyms": [
        {
            "id": "DOID:0070461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070461",
            "name": "MC5DN4A",
            "description": ""
        },
        {
            "id": "MONDO:0957254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957254",
            "name": "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A",
            "description": ""
        },
        {
            "id": "MIM:620358",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620358",
            "name": "Mitochondrial complex V deficiency, nuclear type 4A",
            "description": "Mitochondrial complex V deficiency, nuclear type 4A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070461"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070461",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070461",
            "categories": []
        },
        {
            "id": "MONDO:0957254",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957254",
            "categories": []
        },
        {
            "id": "MIM:620358",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620358",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q03265-1",
            "uniprot_ac": "Q03265",
            "uniprot_id": "ATPA_MOUSE",
            "refseq_ac": "NP_031531",
            "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(1) complex subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "modifier of Min 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5f1a",
                    "type": "recommended"
                },
                {
                    "name": "Atp5a1",
                    "type": "synonym"
                },
                {
                    "name": "Atp5f1a",
                    "type": "synonym"
                },
                {
                    "name": "Atpm",
                    "type": "synonym"
                },
                {
                    "name": "D18Ertd206e",
                    "type": "synonym"
                },
                {
                    "name": "Mom2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03265-1",
            "evidence": [
                {
                    "id": "0070461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25705-1",
            "uniprot_ac": "P25705",
            "uniprot_id": "ATPA_HUMAN",
            "refseq_ac": "NP_001001935",
            "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(1) complex subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial isoform c",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase alpha chain, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "ATP sythase (F1-ATPase) alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 123m",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthetase, oligomycin-resistant",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP5F1A",
                    "type": "recommended"
                },
                {
                    "name": "ATP5A1",
                    "type": "synonym"
                },
                {
                    "name": "ATP5AL2",
                    "type": "synonym"
                },
                {
                    "name": "ATP5A",
                    "type": "synonym"
                },
                {
                    "name": "ATP5F1A",
                    "type": "synonym"
                },
                {
                    "name": "ATPM",
                    "type": "synonym"
                },
                {
                    "name": "COXPD22",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-123m",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN4A",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN4B",
                    "type": "synonym"
                },
                {
                    "name": "MC5DN4",
                    "type": "synonym"
                },
                {
                    "name": "MOM2",
                    "type": "synonym"
                },
                {
                    "name": "OMR",
                    "type": "synonym"
                },
                {
                    "name": "ORM",
                    "type": "synonym"
                },
                {
                    "name": "hATP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P25705-1",
            "evidence": [
                {
                    "id": "620358",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620358"
                },
                {
                    "id": "0070461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07251-1",
            "uniprot_ac": "P07251",
            "uniprot_id": "ATPA_YEAST",
            "refseq_ac": "NP_009453",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "F1F0 ATP synthase subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP1",
                    "type": "recommended"
                },
                {
                    "name": "ATP1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0827",
                    "type": "synonym"
                }
            ],
            "record_id": "P07251-1",
            "evidence": [
                {
                    "id": "0070461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15999-1",
            "uniprot_ac": "P15999",
            "uniprot_id": "ATPA_RAT",
            "refseq_ac": "NP_075581",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F(1) complex subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase F1 subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit alpha, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial H+-ATP synthase alpha subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp5f1a",
                    "type": "recommended"
                },
                {
                    "name": "Atp5a1",
                    "type": "synonym"
                },
                {
                    "name": "Atp5f1a",
                    "type": "synonym"
                }
            ],
            "record_id": "P15999-1",
            "evidence": [
                {
                    "id": "0070461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35381-1",
            "uniprot_ac": "P35381",
            "uniprot_id": "ATPA_DROME",
            "refseq_ac": "NP_726243",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP synthase subunit alpha, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "ATP SYNTHASE ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "ATP VDRC synthase F1F0",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase alpha subunit of complex V",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase subunits alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthase, subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP synthetase alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "CG3612-PA",
                    "type": "synonym"
                },
                {
                    "name": "COMPLEX V: alpha chain",
                    "type": "synonym"
                },
                {
                    "name": "F0/F1 ATP synthase alpha",
                    "type": "synonym"
                },
                {
                    "name": "Protein bellwether",
                    "type": "synonym"
                },
                {
                    "name": "alpha subunit of ATP synthase",
                    "type": "synonym"
                },
                {
                    "name": "alpha subunit of the mitochondrial F[[1]]F[[0]] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ATP synthase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-subunit of ATP synthase",
                    "type": "synonym"
                },
                {
                    "name": "bellweather",
                    "type": "synonym"
                },
                {
                    "name": "bellwether",
                    "type": "synonym"
                },
                {
                    "name": "blw-PA",
                    "type": "synonym"
                },
                {
                    "name": "colibri",
                    "type": "synonym"
                },
                {
                    "name": "complex V alpha",
                    "type": "synonym"
                },
                {
                    "name": "complex Va",
                    "type": "synonym"
                },
                {
                    "name": "complex valpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase subunit B",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATP synthase subunit alpha of complex V",
                    "type": "synonym"
                },
                {
                    "name": "mitochondrial ATPase complex V-subunit alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "blw",
                    "type": "recommended"
                },
                {
                    "name": "A2(2nd)27",
                    "type": "synonym"
                },
                {
                    "name": "ATP syn-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP5A",
                    "type": "synonym"
                },
                {
                    "name": "ATP5F1A",
                    "type": "synonym"
                },
                {
                    "name": "ATP5alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATP5a",
                    "type": "synonym"
                },
                {
                    "name": "ATPA_DROME",
                    "type": "synonym"
                },
                {
                    "name": "ATPA",
                    "type": "synonym"
                },
                {
                    "name": "ATPSYN-ALPHA",
                    "type": "synonym"
                },
                {
                    "name": "ATPsyn-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATPsyn-a",
                    "type": "synonym"
                },
                {
                    "name": "ATPsynalpha",
                    "type": "synonym"
                },
                {
                    "name": "Atp5a",
                    "type": "synonym"
                },
                {
                    "name": "Blw",
                    "type": "synonym"
                },
                {
                    "name": "C-V-alpha",
                    "type": "synonym"
                },
                {
                    "name": "C-Va",
                    "type": "synonym"
                },
                {
                    "name": "CG3612",
                    "type": "synonym"
                },
                {
                    "name": "CValpha",
                    "type": "synonym"
                },
                {
                    "name": "CxV",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3612",
                    "type": "synonym"
                },
                {
                    "name": "blw",
                    "type": "synonym"
                },
                {
                    "name": "dATP5A",
                    "type": "synonym"
                },
                {
                    "name": "l(2)01410",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03972",
                    "type": "synonym"
                },
                {
                    "name": "l(2)59ABa",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k00212",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)01504",
                    "type": "synonym"
                },
                {
                    "name": "ms(2)Pry58F",
                    "type": "synonym"
                }
            ],
            "record_id": "P35381-1",
            "evidence": [
                {
                    "id": "0070461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070461"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070461"
}