{
    "disease_id": "DOID:0070259",
    "recommended_name": {
        "id": "DOID:0070259",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070259",
        "name": "congenital disorder of glycosylation type IIg",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070259",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIg",
            "description": ""
        },
        {
            "id": "DOID:0070259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070259",
            "name": "CDG IIg",
            "description": ""
        },
        {
            "id": "DOID:0070259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070259",
            "name": "CDG2G",
            "description": ""
        },
        {
            "id": "DOID:0070259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070259",
            "name": "CDGII/COG1 cerebrocostomandibular-like syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070259",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070259",
            "name": "CDGIIg",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "COG1-congenital disorder of glycosylation",
            "description": "COG1-CDG is an extremely rare form of CDG syndrome characterized clinically in the few cases reported to date by variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism."
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "CDG syndrome type IIg",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "CDG-IIg",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "CDG2G",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "COG1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "COG1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "carbohydrate deficient glycoprotein syndrome type IIg",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "congenital disorder of glycosylation type 2g",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "congenital disorder of glycosylation type IIg",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "CDG 2G",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "COG1-CDG (CDG-IIg)",
            "description": ""
        },
        {
            "id": "MONDO:0012637",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "name": "congenital disorder of glycosylation, type IIg",
            "description": ""
        },
        {
            "id": "MIM:611209",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611209",
            "name": "Congenital disorder of glycosylation 2G",
            "description": "Congenital disorder of glycosylation 2G"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070259"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070259",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070259",
            "categories": []
        },
        {
            "id": "MONDO:0012637",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012637",
            "categories": []
        },
        {
            "id": "MIM:611209",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611209",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8WTW3-1",
            "uniprot_ac": "Q8WTW3",
            "uniprot_id": "COG1_HUMAN",
            "refseq_ac": "NP_061184",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 1",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 1",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor defect B complementing",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG1",
                    "type": "recommended"
                },
                {
                    "name": "CDG2G",
                    "type": "synonym"
                },
                {
                    "name": "COG1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1381",
                    "type": "synonym"
                },
                {
                    "name": "LDLB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WTW3-1",
            "evidence": [
                {
                    "id": "9382",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/9382#disease"
                },
                {
                    "id": "0012637",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012637"
                },
                {
                    "id": "611209",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611209"
                },
                {
                    "id": "COG1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/COG1/#!details"
                },
                {
                    "id": "0070259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z160-1",
            "uniprot_ac": "Q9Z160",
            "uniprot_id": "COG1_MOUSE",
            "refseq_ac": "NP_038609",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 1",
                    "type": "synonym"
                },
                {
                    "name": "Low density lipoprotein receptor defect B-complementing protein",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein B",
                    "type": "synonym"
                },
                {
                    "name": "low density lipoprotein receptor defect B-complementing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog1",
                    "type": "recommended"
                },
                {
                    "name": "6030445I15",
                    "type": "synonym"
                },
                {
                    "name": "Cog1",
                    "type": "synonym"
                },
                {
                    "name": "Ldlb",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1381",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z160-1",
            "evidence": [
                {
                    "id": "0070259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZMP5-1",
            "uniprot_ac": "D3ZMP5",
            "uniprot_id": "D3ZMP5_RAT",
            "refseq_ac": "NP_001000428",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Olfactory receptor",
                    "type": "recommended"
                },
                {
                    "name": "olfactory receptor 1130",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor Olr1130",
                    "type": "synonym"
                },
                {
                    "name": "olfactory receptor gene Olr1130",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Or7g21",
                    "type": "recommended"
                },
                {
                    "name": "Olr1130",
                    "type": "synonym"
                },
                {
                    "name": "Or7g21",
                    "type": "synonym"
                },
                {
                    "name": "ratchr8-17105321-17104383_ORF",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZMP5-1",
            "evidence": [
                {
                    "id": "0070259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AFV4-1",
            "uniprot_ac": "A0A8I6AFV4",
            "uniprot_id": "A0A8I6AFV4_RAT",
            "refseq_ac": "",
            "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 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AFV4-1",
            "evidence": [
                {
                    "id": "0070259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070259"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGC3-1",
            "uniprot_ac": "Q9VGC3",
            "uniprot_id": "COG1_DROME",
            "refseq_ac": "NP_001262497",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "CG4848-PC",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 1",
                    "type": "synonym"
                },
                {
                    "name": "Cog1-PC",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 1",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog1",
                    "type": "recommended"
                },
                {
                    "name": "CG4848",
                    "type": "synonym"
                },
                {
                    "name": "COG1",
                    "type": "synonym"
                },
                {
                    "name": "Cog1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4848",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4848",
                    "type": "synonym"
                },
                {
                    "name": "cog1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGC3-1",
            "evidence": [
                {
                    "id": "0070259",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070259"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070259"
}