{
    "disease_id": "DOID:0051052",
    "recommended_name": {
        "id": "DOID:0051052",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051052",
        "name": "congenital disorder of glycosylation type IIy",
        "description": "A congenital disorder of glycosylation type II that is characterized by poor overall growth and global developmental delay with impaired intellectual development and that has_material_basis_in compound heterozygous mutations in the GET4 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "MONDO:0859356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859356",
            "name": "congenital disorder of glycosylation, type IIy",
            "description": ""
        },
        {
            "id": "MIM:620200",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620200",
            "name": "Congenital disorder of glycosylation 2Y",
            "description": "Congenital disorder of glycosylation 2Y"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051052"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051052",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051052",
            "categories": []
        },
        {
            "id": "MONDO:0859356",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859356",
            "categories": []
        },
        {
            "id": "MIM:620200",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620200",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R3Y3-1",
            "uniprot_ac": "F1R3Y3",
            "uniprot_id": "F1R3Y3_DANRE",
            "refseq_ac": "NP_001186836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi to ER traffic protein 4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Conserved edge expressed protein",
                    "type": "synonym"
                },
                {
                    "name": "Golgi to ER traffic protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "conserved edge expressed protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "get4",
                    "type": "recommended"
                },
                {
                    "name": "cee",
                    "type": "synonym"
                },
                {
                    "name": "fd15h01",
                    "type": "synonym"
                },
                {
                    "name": "get4",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd15h01",
                    "type": "synonym"
                }
            ],
            "record_id": "F1R3Y3-1",
            "evidence": [
                {
                    "id": "0051052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D1H7-1",
            "uniprot_ac": "Q9D1H7",
            "uniprot_id": "GET4_MOUSE",
            "refseq_ac": "NP_001156788",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi to ER traffic protein 4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Golgi to ER traffic protein 4 homolog isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Get4",
                    "type": "recommended"
                },
                {
                    "name": "1110007L15Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cee",
                    "type": "synonym"
                },
                {
                    "name": "Get4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1H7-1",
            "evidence": [
                {
                    "id": "0051052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7L5D6-1",
            "uniprot_ac": "Q7L5D6",
            "uniprot_id": "GET4_HUMAN",
            "refseq_ac": "NP_057033",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi to ER traffic protein 4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "Conserved edge-expressed protein",
                    "type": "synonym"
                },
                {
                    "name": "Golgi to ER traffic protein 4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "H_NH1244M04.5",
                    "type": "synonym"
                },
                {
                    "name": "TRC35",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane domain recognition complex 35 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "conserved edge expressed protein",
                    "type": "synonym"
                },
                {
                    "name": "conserved edge protein",
                    "type": "synonym"
                },
                {
                    "name": "golgi to ER traffic protein 4",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane domain recognition complex 35 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane domain recognition complex, 35kDa",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GET4",
                    "type": "recommended"
                },
                {
                    "name": "C7orf20",
                    "type": "synonym"
                },
                {
                    "name": "CDG2Y",
                    "type": "synonym"
                },
                {
                    "name": "CEE",
                    "type": "synonym"
                },
                {
                    "name": "CGI-20",
                    "type": "synonym"
                },
                {
                    "name": "GET4",
                    "type": "synonym"
                },
                {
                    "name": "TRC35",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7L5D6-1",
            "evidence": [
                {
                    "id": "620200",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620200"
                },
                {
                    "id": "0051052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12125-1",
            "uniprot_ac": "Q12125",
            "uniprot_id": "GET4_YEAST",
            "refseq_ac": "NP_014807",
            "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": "Golgi to ER traffic protein 4",
                    "type": "recommended"
                },
                {
                    "name": "Guided entry of tail-anchored proteins 4",
                    "type": "synonym"
                },
                {
                    "name": "protein GET4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GET4",
                    "type": "recommended"
                },
                {
                    "name": "ENV8",
                    "type": "synonym"
                },
                {
                    "name": "GET4",
                    "type": "synonym"
                },
                {
                    "name": "O3580",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12125-1",
            "evidence": [
                {
                    "id": "0051052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5F2-1",
            "uniprot_ac": "A0A8I6A5F2",
            "uniprot_id": "A0A8I6A5F2_RAT",
            "refseq_ac": "XP_006249003",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SUN domain-containing protein 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Sad1 and UNC84 domain containing 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Get4",
                    "type": "recommended"
                },
                {
                    "name": "Sun1",
                    "type": "recommended"
                },
                {
                    "name": "Sun1",
                    "type": "synonym"
                },
                {
                    "name": "Unc84a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5F2-1",
            "evidence": [
                {
                    "id": "0051052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051052"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VN19-1",
            "uniprot_ac": "Q9VN19",
            "uniprot_id": "GET4_DROME",
            "refseq_ac": "NP_001097680",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Golgi to ER traffic protein 4 homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG9853-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9853",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LD21829",
                    "type": "synonym"
                },
                {
                    "name": "CG41469",
                    "type": "synonym"
                },
                {
                    "name": "CG9853",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9853",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9853",
                    "type": "synonym"
                },
                {
                    "name": "Get4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VN19-1",
            "evidence": [
                {
                    "id": "0051052",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0051052"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051052"
}