{
    "disease_id": "DOID:0070262",
    "recommended_name": {
        "id": "DOID:0070262",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070262",
        "name": "congenital disorder of glycosylation type IIj",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDG IIj",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDG syndrome type IIj",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDG2J",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "COG4-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "Congenital disorder of glycosylation type 2j",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIj",
            "description": ""
        },
        {
            "id": "DOID:0070262",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "name": "CDGIIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-congenital disorder of glycosylation",
            "description": "COG4-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by seizures, some dysmorphic features, axial hyponia, slight peripheral hypertonia and hyperreflexia."
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "CDG syndrome type IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "CDG-IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "CDG2J",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "carbohydrate deficient glycoprotein syndrome type IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "congenital disorder of glycosylation type 2j",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "congenital disorder of glycosylation type IIj",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "COG4-CDG (CDG-IIj)",
            "description": ""
        },
        {
            "id": "MONDO:0013281",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "name": "congenital disorder of glycosylation, type IIj",
            "description": ""
        },
        {
            "id": "MIM:613489",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613489",
            "name": "Congenital disorder of glycosylation 2J",
            "description": "Congenital disorder of glycosylation 2J"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070262"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070262",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070262",
            "categories": []
        },
        {
            "id": "MONDO:0013281",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013281",
            "categories": []
        },
        {
            "id": "MIM:613489",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613489",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H9E3-1",
            "uniprot_ac": "Q9H9E3",
            "uniprot_id": "COG4_HUMAN",
            "refseq_ac": "NP_056201",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "complexed with Dor1p",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 4",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG4",
                    "type": "recommended"
                },
                {
                    "name": "CDG2J",
                    "type": "synonym"
                },
                {
                    "name": "COD1",
                    "type": "synonym"
                },
                {
                    "name": "COG4",
                    "type": "synonym"
                },
                {
                    "name": "SWILS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9E3-1",
            "evidence": [
                {
                    "id": "25839",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/25839#disease"
                },
                {
                    "id": "0013281",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013281"
                },
                {
                    "id": "613489",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613489"
                },
                {
                    "id": "COG4",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/COG4/#!details"
                },
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q29RB1-1",
            "uniprot_ac": "Q29RB1",
            "uniprot_id": "COG4_DANRE",
            "refseq_ac": "NP_001034912",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cog4",
                    "type": "recommended"
                },
                {
                    "name": "cog4",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136860",
                    "type": "synonym"
                }
            ],
            "record_id": "Q29RB1-1",
            "evidence": [
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1U1-1",
            "uniprot_ac": "Q8R1U1",
            "uniprot_id": "COG4_MOUSE",
            "refseq_ac": "NP_598734",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog4",
                    "type": "recommended"
                },
                {
                    "name": "Cog4",
                    "type": "synonym"
                },
                {
                    "name": "D8Ertd515e",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1U1-1",
            "evidence": [
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17261-1",
            "uniprot_ac": "P17261",
            "uniprot_id": "ERS1_YEAST",
            "refseq_ac": "NP_010000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystine transporter",
                    "type": "recommended"
                },
                {
                    "name": "ERD suppressor",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein ERS1",
                    "type": "synonym"
                },
                {
                    "name": "cystinosin-like protein ERS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERS1",
                    "type": "recommended"
                },
                {
                    "name": "ERS1",
                    "type": "synonym"
                },
                {
                    "name": "YCR75C",
                    "type": "synonym"
                }
            ],
            "record_id": "P17261-1",
            "evidence": [
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q06096-1",
            "uniprot_ac": "Q06096",
            "uniprot_id": "COG4_YEAST",
            "refseq_ac": "NP_015430",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex subunit COG4",
                    "type": "synonym"
                },
                {
                    "name": "Protein SEC38",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG4",
                    "type": "recommended"
                },
                {
                    "name": "COD1",
                    "type": "synonym"
                },
                {
                    "name": "COG4",
                    "type": "synonym"
                },
                {
                    "name": "P8283.16",
                    "type": "synonym"
                },
                {
                    "name": "SEC38",
                    "type": "synonym"
                },
                {
                    "name": "SGF1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06096-1",
            "evidence": [
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZZM3-1",
            "uniprot_ac": "D3ZZM3",
            "uniprot_id": "D3ZZM3_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 4",
                    "type": "recommended"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog4",
                    "type": "recommended"
                }
            ],
            "record_id": "D3ZZM3-1",
            "evidence": [
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q95TN4-1",
            "uniprot_ac": "Q95TN4",
            "uniprot_id": "COG4_DROME",
            "refseq_ac": "NP_609413",
            "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 4",
                    "type": "recommended"
                },
                {
                    "name": "CG7456-PA",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 4",
                    "type": "synonym"
                },
                {
                    "name": "Cog4-PA",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 4",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog4",
                    "type": "recommended"
                },
                {
                    "name": "CG7456",
                    "type": "synonym"
                },
                {
                    "name": "Cog4",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7456",
                    "type": "synonym"
                }
            ],
            "record_id": "Q95TN4-1",
            "evidence": [
                {
                    "id": "0070262",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070262"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070262"
}