{
    "disease_id": "DOID:0070261",
    "recommended_name": {
        "id": "DOID:0070261",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070261",
        "name": "congenital disorder of glycosylation type IIi",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIi",
            "description": ""
        },
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "CDG IIi",
            "description": ""
        },
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "CDG syndrome type IIi",
            "description": ""
        },
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "CDG2I",
            "description": ""
        },
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "COG5-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "Congenital disorder of glycosylation type 2i",
            "description": ""
        },
        {
            "id": "DOID:0070261",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "name": "CDGIIi",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "COG5-congenital disorder of glycosylation",
            "description": "COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia."
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "CDG syndrome type III",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "CDG-III",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "CDG2I",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "COG5-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "COG5-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "carbohydrate deficient glycoprotein syndrome type III",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "congenital disorder of glycosylation type 2i",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "congenital disorder of glycosylation type III",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "CDG syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "COG5-CDG (CDG-III)",
            "description": ""
        },
        {
            "id": "MONDO:0013325",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "name": "congenital disorder of glycosylation, type III",
            "description": ""
        },
        {
            "id": "MIM:613612",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613612",
            "name": "Congenital disorder of glycosylation 2I",
            "description": "Congenital disorder of glycosylation 2I"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070261"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070261",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070261",
            "categories": []
        },
        {
            "id": "MONDO:0013325",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013325",
            "categories": []
        },
        {
            "id": "MIM:613612",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613612",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9UP83-2",
            "uniprot_ac": "Q9UP83",
            "uniprot_id": "COG5_HUMAN",
            "refseq_ac": "NP_001154992",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "13S Golgi transport complex 90 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "13S golgi transport complex 1 90 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 5",
                    "type": "synonym"
                },
                {
                    "name": "GTC-90",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex 1",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 5",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 5 isoform 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG5",
                    "type": "recommended"
                },
                {
                    "name": "CDG2I",
                    "type": "synonym"
                },
                {
                    "name": "COG5",
                    "type": "synonym"
                },
                {
                    "name": "GOLTC1",
                    "type": "synonym"
                },
                {
                    "name": "GTC90",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UP83-2",
            "evidence": [
                {
                    "id": "10466",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/10466#disease"
                },
                {
                    "id": "0013325",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013325"
                },
                {
                    "id": "613612",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613612"
                },
                {
                    "id": "COG5",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/COG5/#!details"
                },
                {
                    "id": "0070261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8RQB0-1",
            "uniprot_ac": "A0A2R8RQB0",
            "uniprot_id": "A0A2R8RQB0_DANRE",
            "refseq_ac": "NP_001038609",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Conserved oligomeric Golgi complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cog5",
                    "type": "recommended"
                },
                {
                    "name": "cog5",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-217k21.3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8RQB0-1",
            "evidence": [
                {
                    "id": "0070261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C0L8-1",
            "uniprot_ac": "Q8C0L8",
            "uniprot_id": "COG5_MOUSE",
            "refseq_ac": "NP_001156598",
            "glycoprotein": "yes",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 5",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog5",
                    "type": "recommended"
                },
                {
                    "name": "5430405C01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cog5",
                    "type": "synonym"
                },
                {
                    "name": "GOLTC1",
                    "type": "synonym"
                },
                {
                    "name": "GTC90",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C0L8-1",
            "evidence": [
                {
                    "id": "0070261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53951-1",
            "uniprot_ac": "P53951",
            "uniprot_id": "COG5_YEAST",
            "refseq_ac": "NP_014347",
            "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": "Conserved oligomeric Golgi complex subunit 5",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "Complexed with DOR1 protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 5",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex subunit COG5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG5",
                    "type": "recommended"
                },
                {
                    "name": "API4",
                    "type": "synonym"
                },
                {
                    "name": "COD4",
                    "type": "synonym"
                },
                {
                    "name": "COG5",
                    "type": "synonym"
                },
                {
                    "name": "N2476",
                    "type": "synonym"
                },
                {
                    "name": "YNL2476W",
                    "type": "synonym"
                }
            ],
            "record_id": "P53951-1",
            "evidence": [
                {
                    "id": "0070261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L5P4-1",
            "uniprot_ac": "A0ABK0L5P4",
            "uniprot_id": "A0ABK0L5P4_RAT",
            "refseq_ac": "NP_001385716",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog5",
                    "type": "recommended"
                },
                {
                    "name": "Cog5",
                    "type": "synonym"
                },
                {
                    "name": "RGD1563296",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0L5P4-1",
            "evidence": [
                {
                    "id": "0070261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070261"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VJD3-1",
            "uniprot_ac": "Q9VJD3",
            "uniprot_id": "COG5_DROME",
            "refseq_ac": "NP_001246059",
            "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 5",
                    "type": "recommended"
                },
                {
                    "name": "CG6549-PD",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 5",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 5",
                    "type": "synonym"
                },
                {
                    "name": "Four-way stop",
                    "type": "synonym"
                },
                {
                    "name": "Protein four way stop",
                    "type": "synonym"
                },
                {
                    "name": "drosophila Cog5",
                    "type": "synonym"
                },
                {
                    "name": "four Way stop",
                    "type": "synonym"
                },
                {
                    "name": "four way stop, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "fws-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fws",
                    "type": "recommended"
                },
                {
                    "name": "CG6549",
                    "type": "synonym"
                },
                {
                    "name": "COG5",
                    "type": "synonym"
                },
                {
                    "name": "Cog5",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6549",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6549",
                    "type": "synonym"
                },
                {
                    "name": "FWS",
                    "type": "synonym"
                },
                {
                    "name": "Fws",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey162",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey186",
                    "type": "synonym"
                },
                {
                    "name": "dCOG5",
                    "type": "synonym"
                },
                {
                    "name": "fws",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VJD3-1",
            "evidence": [
                {
                    "id": "0070261",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070261"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070261"
}