{
    "disease_id": "DOID:0051047",
    "recommended_name": {
        "id": "DOID:0051047",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051047",
        "name": "congenital disorder of glycosylation type IIbb",
        "description": "A congenital disorder of glycosylation type II that is characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings and that has_material_basis_in homozygous mutation in the COG3 gene on chromosome 13q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0957820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957820",
            "name": "congenital disorder of glycosylation, type IIbb",
            "description": ""
        },
        {
            "id": "MONDO:0957820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957820",
            "name": "CDG IIbb",
            "description": ""
        },
        {
            "id": "MONDO:0957820",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957820",
            "name": "CDGIIBB",
            "description": ""
        },
        {
            "id": "MIM:620546",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620546",
            "name": "Congenital disorder of glycosylation 2BB",
            "description": "Congenital disorder of glycosylation 2BB"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051047"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051047",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051047",
            "categories": []
        },
        {
            "id": "MONDO:0957820",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957820",
            "categories": []
        },
        {
            "id": "MIM:620546",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620546",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1NPJ9-1",
            "uniprot_ac": "A0A8M1NPJ9",
            "uniprot_id": "A0A8M1NPJ9_DANRE",
            "refseq_ac": "NP_001137512",
            "glycoprotein": "no",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Component of oligomeric Golgi complex 3",
                    "type": "synonym"
                },
                {
                    "name": "component of golgi transport complex 3",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cog3",
                    "type": "recommended"
                },
                {
                    "name": "cog3",
                    "type": "synonym"
                },
                {
                    "name": "im:7147618",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112360",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1NPJ9-1",
            "evidence": [
                {
                    "id": "0051047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CI04-1",
            "uniprot_ac": "Q8CI04",
            "uniprot_id": "COG3_MOUSE",
            "refseq_ac": "",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog3",
                    "type": "recommended"
                }
            ],
            "record_id": "Q8CI04-1",
            "evidence": [
                {
                    "id": "0051047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96JB2-1",
            "uniprot_ac": "Q96JB2",
            "uniprot_id": "COG3_HUMAN",
            "refseq_ac": "NP_113619",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 3",
                    "type": "synonym"
                },
                {
                    "name": "Vesicle-docking protein SEC34 homolog",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "p94",
                    "type": "synonym"
                },
                {
                    "name": "tethering factor SEC34",
                    "type": "synonym"
                },
                {
                    "name": "vesicle-docking protein SEC34 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG3",
                    "type": "recommended"
                },
                {
                    "name": "CDG2BB",
                    "type": "synonym"
                },
                {
                    "name": "COG3",
                    "type": "synonym"
                },
                {
                    "name": "SEC34",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96JB2-1",
            "evidence": [
                {
                    "id": "620546",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620546"
                },
                {
                    "id": "0051047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40094-1",
            "uniprot_ac": "P40094",
            "uniprot_id": "COG3_YEAST",
            "refseq_ac": "NP_011084",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 3",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex subunit COG3",
                    "type": "synonym"
                },
                {
                    "name": "Protein SEC34",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG3",
                    "type": "recommended"
                },
                {
                    "name": "COG3",
                    "type": "synonym"
                },
                {
                    "name": "GRD20",
                    "type": "synonym"
                },
                {
                    "name": "SEC34",
                    "type": "synonym"
                }
            ],
            "record_id": "P40094-1",
            "evidence": [
                {
                    "id": "0051047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LEZ8-1",
            "uniprot_ac": "A0ABK0LEZ8",
            "uniprot_id": "A0ABK0LEZ8_RAT",
            "refseq_ac": "XP_063130505",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "Component of oligomeric Golgi complex 3",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 3 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog3",
                    "type": "recommended"
                },
                {
                    "name": "Cog3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LEZ8-1",
            "evidence": [
                {
                    "id": "0051047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051047"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q961G1-1",
            "uniprot_ac": "Q961G1",
            "uniprot_id": "COG3_DROME",
            "refseq_ac": "NP_608779",
            "glycoprotein": "yes",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "CG3248-PA",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Cog3-PA",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 3",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog3",
                    "type": "recommended"
                },
                {
                    "name": "CG 3248",
                    "type": "synonym"
                },
                {
                    "name": "CG3248",
                    "type": "synonym"
                },
                {
                    "name": "COG3",
                    "type": "synonym"
                },
                {
                    "name": "Cog3",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3248",
                    "type": "synonym"
                },
                {
                    "name": "SEC34",
                    "type": "synonym"
                },
                {
                    "name": "dCOG3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q961G1-1",
            "evidence": [
                {
                    "id": "0051047",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051047"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051047"
}