{
    "disease_id": "DOID:0070267",
    "recommended_name": {
        "id": "DOID:0070267",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070267",
        "name": "congenital disorder of glycosylation type IIo",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIo",
            "description": ""
        },
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "CCDC115-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "CDG IIo",
            "description": ""
        },
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "CDG syndrome type IIo",
            "description": ""
        },
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "CDG2O",
            "description": ""
        },
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "Congenital disorder of glycosylation type 2o",
            "description": ""
        },
        {
            "id": "DOID:0070267",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "name": "CDGIIo",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "CCDC115-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "CDG syndrome type IIo",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "CDG-IIo",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "CDG2O",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "carbohydrate deficient glycoprotein syndrome type IIo",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "congenital disorder of glycosylation type 2o",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "congenital disorder of glycosylation type IIo",
            "description": ""
        },
        {
            "id": "MONDO:0014789",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "name": "congenital disorder of glycosylation, type IIo",
            "description": ""
        },
        {
            "id": "MIM:616828",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616828",
            "name": "Congenital disorder of glycosylation 2O",
            "description": "Congenital disorder of glycosylation 2O"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070267"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070267",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070267",
            "categories": []
        },
        {
            "id": "MONDO:0014789",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014789",
            "categories": []
        },
        {
            "id": "MIM:616828",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616828",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q5EAR6",
            "uniprot_id": "VMA22_DANRE",
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            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA22",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "vma22",
                    "type": "recommended"
                },
                {
                    "name": "ccdc115",
                    "type": "synonym"
                },
                {
                    "name": "vma22",
                    "type": "synonym"
                },
                {
                    "name": "zgc:113121",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5EAR6-1",
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                    "id": "0070267",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
        },
        {
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            "uniprot_ac": "Q8VE99",
            "uniprot_id": "VMA22_MOUSE",
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            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "Ccp1",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "Coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil protein 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA22",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Vma22",
                    "type": "recommended"
                },
                {
                    "name": "2310061I09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Ccdc115",
                    "type": "synonym"
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                {
                    "name": "Ccp1",
                    "type": "synonym"
                },
                {
                    "name": "Vma22",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070267",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96NT0-1",
            "uniprot_ac": "Q96NT0",
            "uniprot_id": "VMA22_HUMAN",
            "refseq_ac": "NP_001308047",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA22 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar ATPase assembly protein VMA22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA22",
                    "type": "recommended"
                },
                {
                    "name": "CCDC115",
                    "type": "synonym"
                },
                {
                    "name": "CDG2O",
                    "type": "synonym"
                },
                {
                    "name": "VMA22",
                    "type": "synonym"
                },
                {
                    "name": "ccp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96NT0-1",
            "evidence": [
                {
                    "id": "0014789",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014789"
                },
                {
                    "id": "616828",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616828"
                },
                {
                    "id": "CCDC115",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/CCDC115/#!details"
                },
                {
                    "id": "0070267",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38784-1",
            "uniprot_ac": "P38784",
            "uniprot_id": "VMA22_YEAST",
            "refseq_ac": "NP_011927",
            "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": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "Vma22p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VMA22",
                    "type": "recommended"
                },
                {
                    "name": "CEV1",
                    "type": "synonym"
                },
                {
                    "name": "VMA22",
                    "type": "synonym"
                },
                {
                    "name": "VPH6",
                    "type": "synonym"
                }
            ],
            "record_id": "P38784-1",
            "evidence": [
                {
                    "id": "0070267",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2GV96-1",
            "uniprot_ac": "B2GV96",
            "uniprot_id": "B2GV96_RAT",
            "refseq_ac": "NP_001102263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "Coiled-coil domain-containing protein 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain containing 115",
                    "type": "synonym"
                },
                {
                    "name": "coiled-coil domain-containing protein 115",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vma22",
                    "type": "recommended"
                },
                {
                    "name": "Ccdc115",
                    "type": "synonym"
                },
                {
                    "name": "RGD1304653",
                    "type": "synonym"
                },
                {
                    "name": "Vma22",
                    "type": "synonym"
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            ],
            "record_id": "B2GV96-1",
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                {
                    "id": "0070267",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
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            "uniprot_canonical_ac": "Q9VUE9-1",
            "uniprot_ac": "Q9VUE9",
            "uniprot_id": "Q9VUE9_DROME",
            "refseq_ac": "NP_648706",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "CG9592-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9592",
                    "type": "recommended"
                },
                {
                    "name": "CG9592",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9592",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9592",
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                    "id": "0070267",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VND4-1",
            "uniprot_ac": "Q9VND4",
            "uniprot_id": "Q9VND4_DROME",
            "refseq_ac": "NP_001262288",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar ATPase assembly protein VMA22",
                    "type": "recommended"
                },
                {
                    "name": "CG14671-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG14671",
                    "type": "recommended"
                },
                {
                    "name": "CG14671",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14671",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14671",
                    "type": "synonym"
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            ],
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                {
                    "id": "0070267",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070267"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070267"
}