{
    "disease_id": "DOID:0112002",
    "recommended_name": {
        "id": "DOID:0112002",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112002",
        "name": "immunodeficiency 47",
        "description": "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "immunodeficiency and hepatopathy with or without neurologic features",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "CDG IIs",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "CDG2S",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "CDGIIs",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "IMD47",
            "description": ""
        },
        {
            "id": "DOID:0112002",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "name": "congenital disorder of glycosylation type IIs",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47",
            "description": "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene."
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "ATP6AP1 primary immunodeficiency disease",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "IMD47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency 47; IMD47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "immunodeficiency type 47",
            "description": ""
        },
        {
            "id": "MONDO:0010504",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "name": "primary immunodeficiency disease caused by mutation in ATP6AP1",
            "description": ""
        },
        {
            "id": "MIM:300972",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300972",
            "name": "Immunodeficiency 47",
            "description": "Immunodeficiency 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112002"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112002",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112002",
            "categories": []
        },
        {
            "id": "MONDO:0010504",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010504",
            "categories": []
        },
        {
            "id": "MIM:300972",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300972",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R9A7-1",
            "uniprot_ac": "F1R9A7",
            "uniprot_id": "F1R9A7_DANRE",
            "refseq_ac": "NP_001373449",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase H+ transporting accessory protein 1a precursor",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp6ap1a",
                    "type": "recommended"
                },
                {
                    "name": "atp6ap1a",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-117k14.5",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R9A7-1",
            "evidence": [
                {
                    "id": "0112002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2AR67-1",
            "uniprot_ac": "A2AR67",
            "uniprot_id": "A2AR67_DANRE",
            "refseq_ac": "NP_775372",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 1b",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1b",
                    "type": "synonym"
                },
                {
                    "name": "bleached blond",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp6ap1b",
                    "type": "recommended"
                },
                {
                    "name": "atp6ap1b",
                    "type": "synonym"
                },
                {
                    "name": "atp6ap1",
                    "type": "synonym"
                },
                {
                    "name": "atp6s1",
                    "type": "synonym"
                },
                {
                    "name": "bbl",
                    "type": "synonym"
                },
                {
                    "name": "etID36826.23",
                    "type": "synonym"
                },
                {
                    "name": "fb33b05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb33b05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103523",
                    "type": "synonym"
                }
            ],
            "record_id": "A2AR67-1",
            "evidence": [
                {
                    "id": "0112002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1Q9-1",
            "uniprot_ac": "Q9R1Q9",
            "uniprot_id": "VAS1_MOUSE",
            "refseq_ac": "NP_061264",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein C7-1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase Ac45 subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase S1 accessory protein",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit Ac45",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "protein C7-1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H+ ATPase accessory subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit S1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6ap1",
                    "type": "recommended"
                },
                {
                    "name": "16A",
                    "type": "synonym"
                },
                {
                    "name": "AC45",
                    "type": "synonym"
                },
                {
                    "name": "Atp6ap1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6ip1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6s1",
                    "type": "synonym"
                },
                {
                    "name": "C7-1",
                    "type": "synonym"
                },
                {
                    "name": "CF2",
                    "type": "synonym"
                },
                {
                    "name": "VATPS1",
                    "type": "synonym"
                },
                {
                    "name": "XAP-3",
                    "type": "synonym"
                },
                {
                    "name": "mFLJ00383",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1Q9-1",
            "evidence": [
                {
                    "id": "0112002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15904-1",
            "uniprot_ac": "Q15904",
            "uniprot_id": "VAS1_HUMAN",
            "refseq_ac": "NP_001174",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal interacting protein 1",
                    "type": "synonym"
                },
                {
                    "name": "H-ATPase subunit",
                    "type": "synonym"
                },
                {
                    "name": "Protein XAP-3",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase Ac45 subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase S1 accessory protein",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "X-associated protein 3",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "protein XAP-3",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit S1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP6AP1",
                    "type": "recommended"
                },
                {
                    "name": "16A",
                    "type": "synonym"
                },
                {
                    "name": "ATP6AP1",
                    "type": "synonym"
                },
                {
                    "name": "ATP6IP1",
                    "type": "synonym"
                },
                {
                    "name": "ATP6S1",
                    "type": "synonym"
                },
                {
                    "name": "Ac45",
                    "type": "synonym"
                },
                {
                    "name": "CF2",
                    "type": "synonym"
                },
                {
                    "name": "VATPS1",
                    "type": "synonym"
                },
                {
                    "name": "XAP-3",
                    "type": "synonym"
                },
                {
                    "name": "XAP3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15904-1",
            "evidence": [
                {
                    "id": "0010504",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010504"
                },
                {
                    "id": "300972",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300972"
                },
                {
                    "id": "ATP6AP1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/ATP6AP1/#!details"
                },
                {
                    "id": "0112002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O54715-1",
            "uniprot_ac": "O54715",
            "uniprot_id": "VAS1_RAT",
            "refseq_ac": "NP_113973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal accessory protein 1",
                    "type": "synonym"
                },
                {
                    "name": "C7-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase Ac45 subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase S1 accessory protein",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit S1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit S1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6ap1",
                    "type": "recommended"
                },
                {
                    "name": "Atp6ap1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6ip1",
                    "type": "synonym"
                },
                {
                    "name": "Atp6s1",
                    "type": "synonym"
                },
                {
                    "name": "C7-1",
                    "type": "synonym"
                }
            ],
            "record_id": "O54715-1",
            "evidence": [
                {
                    "id": "0112002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112002"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7JR49-1",
            "uniprot_ac": "Q7JR49",
            "uniprot_id": "VAS1_DROME",
            "refseq_ac": "NP_610470",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit S1",
                    "type": "recommended"
                },
                {
                    "name": "CG8029-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar H(+) ATPase AC45 accessory subunit",
                    "type": "synonym"
                },
                {
                    "name": "VhaAC45-PB",
                    "type": "synonym"
                },
                {
                    "name": "lethal (2) SH1634",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase AC45 accessory subunit, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase accessory protein AC45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VhaAC45",
                    "type": "recommended"
                },
                {
                    "name": "ATP6AP1",
                    "type": "synonym"
                },
                {
                    "name": "CG8029",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8029",
                    "type": "synonym"
                },
                {
                    "name": "VhaAC45",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.117",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH1634",
                    "type": "synonym"
                },
                {
                    "name": "l(2)SH2 1634",
                    "type": "synonym"
                },
                {
                    "name": "vhaAC45",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7JR49-1",
            "evidence": [
                {
                    "id": "0112002",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112002"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112002"
}