{
    "disease_id": "DOID:0070269",
    "recommended_name": {
        "id": "DOID:0070269",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070269",
        "name": "congenital disorder of glycosylation type IIq",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070269",
            "name": "CDG IIq",
            "description": ""
        },
        {
            "id": "DOID:0070269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070269",
            "name": "CDG2Q",
            "description": ""
        },
        {
            "id": "DOID:0070269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070269",
            "name": "COG2-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070269",
            "name": "COG2-related congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "DOID:0070269",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070269",
            "name": "CDGIIq",
            "description": ""
        },
        {
            "id": "MONDO:0054559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054559",
            "name": "congenital disorder of glycosylation, type IIq",
            "description": ""
        },
        {
            "id": "MONDO:0054559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054559",
            "name": "COG2-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0054559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054559",
            "name": "COG2-related congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0054559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054559",
            "name": "CDG Iiq",
            "description": ""
        },
        {
            "id": "MONDO:0054559",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054559",
            "name": "CDG2Q",
            "description": ""
        },
        {
            "id": "MIM:617395",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617395",
            "name": "Congenital disorder of glycosylation 2Q",
            "description": "Congenital disorder of glycosylation 2Q"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070269"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070269",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070269",
            "categories": []
        },
        {
            "id": "MONDO:0054559",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054559",
            "categories": []
        },
        {
            "id": "MIM:617395",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617395",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q921L5-1",
            "uniprot_ac": "Q921L5",
            "uniprot_id": "COG2_MOUSE",
            "refseq_ac": "NP_084022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 2",
                    "type": "synonym"
                },
                {
                    "name": "Low density lipoprotein receptor defect C-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor defect C complementing",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor defect C-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog2",
                    "type": "recommended"
                },
                {
                    "name": "1190002B08Rik",
                    "type": "synonym"
                },
                {
                    "name": "2700012E02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cog2",
                    "type": "synonym"
                },
                {
                    "name": "Ldlc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q921L5-1",
            "evidence": [
                {
                    "id": "0070269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14746-1",
            "uniprot_ac": "Q14746",
            "uniprot_id": "COG2_HUMAN",
            "refseq_ac": "NP_001138508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 2",
                    "type": "synonym"
                },
                {
                    "name": "Low density lipoprotein receptor defect C-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "brefeldin A-sensitive, peripheral Golgi protein",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 2",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor defect C complementing",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor defect C-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG2",
                    "type": "recommended"
                },
                {
                    "name": "CDG2Q",
                    "type": "synonym"
                },
                {
                    "name": "COG2",
                    "type": "synonym"
                },
                {
                    "name": "LDLC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14746-1",
            "evidence": [
                {
                    "id": "0054559",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0054559"
                },
                {
                    "id": "617395",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617395"
                },
                {
                    "id": "0070269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZT01-1",
            "uniprot_ac": "D3ZT01",
            "uniprot_id": "D3ZT01_RAT",
            "refseq_ac": "NP_001103964",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "Component of oligomeric Golgi complex 2",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog2",
                    "type": "recommended"
                },
                {
                    "name": "Cog2",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZT01-1",
            "evidence": [
                {
                    "id": "0070269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070269"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VF78-1",
            "uniprot_ac": "Q9VF78",
            "uniprot_id": "COG2_DROME",
            "refseq_ac": "NP_524366",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 2",
                    "type": "recommended"
                },
                {
                    "name": "CG6177-PA",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 2",
                    "type": "synonym"
                },
                {
                    "name": "Cog2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 2",
                    "type": "synonym"
                },
                {
                    "name": "LdlCp-related protein",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 2",
                    "type": "synonym"
                },
                {
                    "name": "ldlCp-related protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog2",
                    "type": "recommended"
                },
                {
                    "name": "CG6177",
                    "type": "synonym"
                },
                {
                    "name": "Cog2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6177",
                    "type": "synonym"
                },
                {
                    "name": "ldl-Cp",
                    "type": "synonym"
                },
                {
                    "name": "ldlCp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VF78-1",
            "evidence": [
                {
                    "id": "0070269",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070269"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070269"
}