{
    "disease_id": "DOID:0110942",
    "recommended_name": {
        "id": "DOID:0110942",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110942",
        "name": "autosomal recessive osteopetrosis 1",
        "description": "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110942",
            "name": "OPTB1",
            "description": ""
        },
        {
            "id": "DOID:0110942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110942",
            "name": "autosomal recessive Albers-Schonberg disease",
            "description": ""
        },
        {
            "id": "DOID:0110942",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110942",
            "name": "infantile malignant osteopetrosis 1",
            "description": ""
        },
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            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
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            "description": "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the TCIRG1 gene."
        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "OPTB1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "TCIRG1 autosomal recessive malignant osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "TCIRG1 autosomal recessive osteopetrosis",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive Albers-Schonberg disease",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
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            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
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            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis caused by mutation in TCIRG1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "autosomal recessive osteopetrosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
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            "name": "infantile malignant osteopetrosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis, autosomal recessive type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "marble bones autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis autosomal recessive 1",
            "description": ""
        },
        {
            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis infantile malignant 1",
            "description": ""
        },
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            "id": "MONDO:0009815",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009815",
            "name": "osteopetrosis, autosomal recessive 1",
            "description": ""
        },
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            "id": "MIM:259700",
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            "url": "https://www.omim.org/entry/259700",
            "name": "Osteopetrosis, autosomal recessive 1",
            "description": "Osteopetrosis, autosomal recessive 1"
        }
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            "categories": []
        },
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            "categories": []
        },
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            "database": "MIM",
            "url": "https://www.omim.org/entry/259700",
            "categories": []
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                },
                {
                    "name": "ATPase, H+ transporting, 116kD",
                    "type": "synonym"
                },
                {
                    "name": "OC-116 kDa",
                    "type": "synonym"
                },
                {
                    "name": "OC116",
                    "type": "synonym"
                },
                {
                    "name": "Osteoclastic proton pump 116 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "T-cell immune regulator 1",
                    "type": "synonym"
                },
                {
                    "name": "T-cell immune response cDNA 7",
                    "type": "synonym"
                },
                {
                    "name": "T-cell immune response cDNA7 protein",
                    "type": "synonym"
                },
                {
                    "name": "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a",
                    "type": "synonym"
                },
                {
                    "name": "T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3",
                    "type": "synonym"
                },
                {
                    "name": "TIRC7",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a 3",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a3",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116-kDa",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit a3",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 3",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a3",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "osteoclastic proton pump 116 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "specific 116-kDa vacuolar proton pump subunit",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton translocating ATPase 116 kDa subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TCIRG1",
                    "type": "recommended"
                },
                {
                    "name": "ATP6N1C",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V0A3",
                    "type": "synonym"
                },
                {
                    "name": "Atp6i",
                    "type": "synonym"
                },
                {
                    "name": "OC-116kDa",
                    "type": "synonym"
                },
                {
                    "name": "OC116",
                    "type": "synonym"
                },
                {
                    "name": "OPTB1",
                    "type": "synonym"
                },
                {
                    "name": "Stv1",
                    "type": "synonym"
                },
                {
                    "name": "TCIRG1",
                    "type": "synonym"
                },
                {
                    "name": "TIRC7",
                    "type": "synonym"
                },
                {
                    "name": "Vph1",
                    "type": "synonym"
                },
                {
                    "name": "a3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q13488-1",
            "evidence": [
                {
                    "id": "259700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/259700"
                },
                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32563-1",
            "uniprot_ac": "P32563",
            "uniprot_id": "VPP1_YEAST",
            "refseq_ac": "NP_014913",
            "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": "V-type proton ATPase subunit a, vacuolar isoform",
                    "type": "recommended"
                },
                {
                    "name": "H(+)-transporting V0 sector ATPase subunit a",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 95 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase a 1 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar pH protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump a subunit",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase subunit a 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VPH1",
                    "type": "recommended"
                },
                {
                    "name": "VPH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32563-1",
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                {
                    "id": "0110942",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37296-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "V-type proton ATPase subunit a, Golgi isoform",
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                },
                {
                    "name": "H(+)-transporting V0 sector ATPase subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Similar to VPH1 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 101 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase a 2 subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase subunit AC115",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase subunit a 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STV1",
                    "type": "recommended"
                },
                {
                    "name": "STV1",
                    "type": "synonym"
                },
                {
                    "name": "YM9796.07",
                    "type": "synonym"
                }
            ],
            "record_id": "P37296-1",
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                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZND3-1",
            "uniprot_ac": "A0A8I5ZND3",
            "uniprot_id": "A0A8I5ZND3_RAT",
            "refseq_ac": "",
            "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 a",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Tcirg1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I5ZND3-1",
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                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25286-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 1",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) noncatalytic accessory protein 1 (110/160 kDa)",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit A1",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit a",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal noncatalytic accessory protein 1a",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a 1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar adenosine triphosphatase subunit Ac116",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "v-H+ATPase subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar adenosine triphosphatase subunit Ac116",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton translocating ATPase 116 kDa subunit a",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Atp6v0a1",
                    "type": "recommended"
                },
                {
                    "name": "Atp6n1a",
                    "type": "synonym"
                },
                {
                    "name": "Atp6n1",
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                },
                {
                    "name": "Atp6v0a1",
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                },
                {
                    "name": "Vpp1",
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                }
            ],
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                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A1H0-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit a",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit A4",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit A",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 4",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp6v0a4",
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                },
                {
                    "name": "Atp6v0a4",
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                }
            ],
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                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M154-1",
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            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Coiled-coil domain containing 154",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ccdc154",
                    "type": "recommended"
                }
            ],
            "record_id": "F1M154-1",
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                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE77-1",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "V-type proton ATPase subunit a",
                    "type": "recommended"
                },
                {
                    "name": "CG7678-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-4-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-4",
                    "type": "recommended"
                },
                {
                    "name": "CG7678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7678",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7678",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-4",
                    "type": "synonym"
                },
                {
                    "name": "vha100-4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE77-1",
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                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZBF7-1",
            "uniprot_ac": "A1ZBF7",
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                {
                    "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG30329-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-3-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-3",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:AT03238",
                    "type": "synonym"
                },
                {
                    "name": "CG30329",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG30329",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG30329",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-3",
                    "type": "synonym"
                },
                {
                    "name": "vha100-3",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZBF7-1",
            "evidence": [
                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKF6-1",
            "uniprot_ac": "Q9VKF6",
            "uniprot_id": "Q9VKF6_DROME",
            "refseq_ac": "NP_001260388",
            "glycoprotein": "no",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG12602-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-5-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 5, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-5",
                    "type": "recommended"
                },
                {
                    "name": "CG12602",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12602",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12602",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-5",
                    "type": "synonym"
                },
                {
                    "name": "vha100-5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKF6-1",
            "evidence": [
                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VE75-1",
            "uniprot_ac": "Q9VE75",
            "uniprot_id": "Q9VE75_DROME",
            "refseq_ac": "NP_650722",
            "glycoprotein": "no",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG18617-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-2-PB",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H + ATPase subunit 100-2",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 2, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vha100-2",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LD21735",
                    "type": "synonym"
                },
                {
                    "name": "CG18617",
                    "type": "synonym"
                },
                {
                    "name": "CG7679",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18617",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18617",
                    "type": "synonym"
                },
                {
                    "name": "V100-2",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-2",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.296",
                    "type": "synonym"
                },
                {
                    "name": "vha100-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VE75-1",
            "evidence": [
                {
                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9XZ10-1",
            "uniprot_ac": "Q9XZ10",
            "uniprot_id": "Q9XZ10_DROME",
            "refseq_ac": "NP_651672",
            "glycoprotein": "no",
            "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 a",
                    "type": "recommended"
                },
                {
                    "name": "CG1709-PE",
                    "type": "synonym"
                },
                {
                    "name": "V0-ATPase a1",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-1-PE",
                    "type": "synonym"
                },
                {
                    "name": "neuron-specific V[[0]] subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase V0, subunit a1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase 100kD subunit 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar H[+] ATPase subunit 100-1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Vha100-1",
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                },
                {
                    "name": "BcDNA:LD21248",
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                },
                {
                    "name": "CG1709",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1709",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1709",
                    "type": "synonym"
                },
                {
                    "name": "V0a",
                    "type": "synonym"
                },
                {
                    "name": "V0",
                    "type": "synonym"
                },
                {
                    "name": "V100-1",
                    "type": "synonym"
                },
                {
                    "name": "V100",
                    "type": "synonym"
                },
                {
                    "name": "Vha100-1",
                    "type": "synonym"
                },
                {
                    "name": "Vha100",
                    "type": "synonym"
                },
                {
                    "name": "v0a1",
                    "type": "synonym"
                },
                {
                    "name": "v100",
                    "type": "synonym"
                },
                {
                    "name": "vha100-1",
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                },
                {
                    "name": "vha",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9XZ10-1",
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                {
                    "id": "0110942",
                    "database": "AGR",
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                }
            ]
        },
        {
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "V-type proton ATPase 116 kDa subunit a 1",
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                },
                {
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                    "type": "synonym"
                },
                {
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                },
                {
                    "name": "Clathrin-coated vesicle/synaptic vesicle proton pump 116 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "H(+)-transporting two-sector ATPase, 116 kDa accessory protein A1",
                    "type": "synonym"
                },
                {
                    "name": "V-ATPase 116 kDa subunit a 1",
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                {
                    "name": "V-ATPase 116 kDa subunit a1",
                    "type": "synonym"
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                {
                    "name": "V-ATPase subunit a1",
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                {
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                },
                {
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                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar adenosine triphosphatase subunit Ac116",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton pump subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 1",
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                },
                {
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                    "type": "synonym"
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                {
                    "name": "vacuolar adenosine triphosphatase subunit Ac116",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump subunit 1",
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                },
                {
                    "name": "vacuolar proton translocating ATPase 116 kDa subunit A",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar-type H(+)-ATPase 115 kDa subunit",
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                }
            ],
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                    "name": "ATP6V0A1",
                    "type": "recommended"
                },
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                    "name": "ATP6N1A",
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                {
                    "name": "ATP6N1",
                    "type": "synonym"
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                {
                    "name": "ATP6V0A1",
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                {
                    "name": "DEE104",
                    "type": "synonym"
                },
                {
                    "name": "NEDEBA",
                    "type": "synonym"
                },
                {
                    "name": "Stv1",
                    "type": "synonym"
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                {
                    "name": "VPP1",
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                },
                {
                    "name": "Vph1",
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                    "name": "a1",
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                }
            ],
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                    "id": "0110942",
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                }
            ]
        },
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                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "V-type proton ATPase 116 kDa subunit a 4",
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                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1B",
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                },
                {
                    "name": "ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 2 (38kD)",
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                },
                {
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                {
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                    "type": "synonym"
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                {
                    "name": "V-ATPase 116 kDa isoform a 4",
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                {
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                    "type": "synonym"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 4",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 4",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a kidney isoform",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar proton pump 116 kDa accessory subunit",
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                {
                    "name": "vacuolar proton pump, subunit 2",
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                }
            ],
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                {
                    "name": "ATP6V0A4",
                    "type": "recommended"
                },
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                    "name": "A4",
                    "type": "synonym"
                },
                {
                    "name": "ATP6N1B",
                    "type": "synonym"
                },
                {
                    "name": "ATP6N2",
                    "type": "synonym"
                },
                {
                    "name": "ATP6V0A4",
                    "type": "synonym"
                },
                {
                    "name": "DRTA3",
                    "type": "synonym"
                },
                {
                    "name": "RDRTA2",
                    "type": "synonym"
                },
                {
                    "name": "RTA1C",
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                },
                {
                    "name": "RTADR",
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                },
                {
                    "name": "STV1",
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                },
                {
                    "name": "VPH1",
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                },
                {
                    "name": "VPP2",
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                }
            ],
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                    "id": "0110942",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
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            "uniprot_canonical_ac": "Q9Y487-1",
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                }
            ],
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                    "name": "V-type proton ATPase 116 kDa subunit a 2",
                    "type": "recommended"
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                },
                {
                    "name": "ATPase, H+ transporting, lysosomal V0 subunit a2",
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                },
                {
                    "name": "Lysosomal H(+)-transporting ATPase V0 subunit a 2",
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                    "name": "TJ6",
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                    "name": "V-ATPase 116 kDa subunit a 2",
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                {
                    "name": "V-ATPase 116 kDa subunit a2",
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                },
                {
                    "name": "V-ATPase subunit a2",
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                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 2 isoform 1",
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                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a 2",
                    "type": "synonym"
                },
                {
                    "name": "V-type proton ATPase 116 kDa subunit a2",
                    "type": "synonym"
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                {
                    "name": "Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2",
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                },
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                    "name": "lysosomal H(+)-transporting ATPase V0 subunit a 2",
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                {
                    "name": "lysosomal H(+)-transporting ATPase V0 subunit a2",
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                },
                {
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                    "name": "v-type proton ATPase 116 kDa subunit a",
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                    "name": "vacuolar proton translocating ATPase 116 kDa subunit a",
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            ],
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                    "name": "ATP6V0A2",
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                },
                {
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                    "name": "ARCL",
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                {
                    "name": "ATP6A2",
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                {
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                {
                    "name": "J6B7",
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                {
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                {
                    "name": "STV1",
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                {
                    "name": "TJ6M",
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                {
                    "name": "TJ6S",
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                {
                    "name": "TJ6",
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                },
                {
                    "name": "VPH1",
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                },
                {
                    "name": "WSS",
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                },
                {
                    "name": "a2V",
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            ],
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                    "id": "0110942",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110942"
                }
            ]
        },
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            "uniprot_canonical_ac": "A6NI56-1",
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                }
            ],
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                    "name": "Coiled-coil domain-containing protein 154",
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                }
            ],
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                    "name": "CCDC154",
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                    "name": "C16orf29",
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                {
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            ],
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                    "id": "0110942",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110942"
}
