{
    "disease_id": "DOID:0070260",
    "recommended_name": {
        "id": "DOID:0070260",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070260",
        "name": "congenital disorder of glycosylation type IIh",
        "description": "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "CDG IIh",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "CDG2H",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "COG8-CDG",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "Congenital disorder of glycosylation type 2h",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "Carbohydrate deficient glycoprotein syndrome type IIh",
            "description": ""
        },
        {
            "id": "DOID:0070260",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "name": "CDGIIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-congenital disorder of glycosylation",
            "description": "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterized by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products."
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "CDG syndrome type IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "CDG-IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "CDG2H",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "carbohydrate deficient glycoprotein syndrome type IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "congenital disorder of glycosylation type 2h",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "congenital disorder of glycosylation type IIh",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "COG8-CDG (CDG-IIh)",
            "description": ""
        },
        {
            "id": "MONDO:0012635",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "name": "congenital disorder of glycosylation, type IIh",
            "description": ""
        },
        {
            "id": "MIM:611182",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611182",
            "name": "Congenital disorder of glycosylation 2H",
            "description": "Congenital disorder of glycosylation 2H"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070260"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070260",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070260",
            "categories": []
        },
        {
            "id": "MONDO:0012635",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012635",
            "categories": []
        },
        {
            "id": "MIM:611182",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611182",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96MW5-1",
            "uniprot_ac": "Q96MW5",
            "uniprot_id": "COG8_HUMAN",
            "refseq_ac": "NP_115758",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 8",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric golgi complex component 8",
                    "type": "synonym"
                },
                {
                    "name": "dependent on RIC1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG8",
                    "type": "recommended"
                },
                {
                    "name": "CDG2H",
                    "type": "synonym"
                },
                {
                    "name": "COG8",
                    "type": "synonym"
                },
                {
                    "name": "DOR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96MW5-1",
            "evidence": [
                {
                    "id": "84342",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/84342#disease"
                },
                {
                    "id": "0012635",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012635"
                },
                {
                    "id": "611182",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611182"
                },
                {
                    "id": "COG8",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/COG8/#!details"
                },
                {
                    "id": "0070260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJA2-1",
            "uniprot_ac": "Q9JJA2",
            "uniprot_id": "COG8_MOUSE",
            "refseq_ac": "NP_631975",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 8",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex protein 8",
                    "type": "synonym"
                },
                {
                    "name": "conserved oligomeric Golgi complex subunit 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog8",
                    "type": "recommended"
                },
                {
                    "name": "Cog8",
                    "type": "synonym"
                },
                {
                    "name": "MNCb-5704",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJA2-1",
            "evidence": [
                {
                    "id": "0070260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04632-1",
            "uniprot_ac": "Q04632",
            "uniprot_id": "COG8_YEAST",
            "refseq_ac": "NP_013640",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "COG complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 8",
                    "type": "synonym"
                },
                {
                    "name": "Golgi transport complex subunit COG8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COG8",
                    "type": "recommended"
                },
                {
                    "name": "COG8",
                    "type": "synonym"
                },
                {
                    "name": "DOR1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04632-1",
            "evidence": [
                {
                    "id": "0070260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070260"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VKH0-1",
            "uniprot_ac": "Q9VKH0",
            "uniprot_id": "COG8_DROME",
            "refseq_ac": "NP_609503",
            "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 8",
                    "type": "recommended"
                },
                {
                    "name": "CG6488-PA",
                    "type": "synonym"
                },
                {
                    "name": "COG complex subunit 8",
                    "type": "synonym"
                },
                {
                    "name": "Cog8-PA",
                    "type": "synonym"
                },
                {
                    "name": "Component of oligomeric Golgi complex 8",
                    "type": "synonym"
                },
                {
                    "name": "component of oligomeric golgi complex 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cog8",
                    "type": "recommended"
                },
                {
                    "name": "CG6488",
                    "type": "synonym"
                },
                {
                    "name": "COG8",
                    "type": "synonym"
                },
                {
                    "name": "Cog8",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6488",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VKH0-1",
            "evidence": [
                {
                    "id": "0070260",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070260"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070260"
}