{
    "disease_id": "DOID:0080558",
    "recommended_name": {
        "id": "DOID:0080558",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080558",
        "name": "congenital disorder of glycosylation If",
        "description": "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080558",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080558",
            "name": "congenital disorder of glycosylation 1f",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "MPDU1-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 If is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies."
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG syndrome type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG-If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG1F",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDGIf",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "MPDU1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "carbohydrate deficient glycoprotein syndrome type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation type 1f",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation type If",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "CDG 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "MPDU1-CDG (CDG-If)",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "carbohydrate-deficient glycoprotein syndrome type 1F",
            "description": ""
        },
        {
            "id": "MONDO:0012211",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "name": "congenital disorder of glycosylation, type If",
            "description": ""
        },
        {
            "id": "MIM:609180",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609180",
            "name": "Congenital disorder of glycosylation 1F",
            "description": "Congenital disorder of glycosylation 1F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080558"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080558",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080558",
            "categories": []
        },
        {
            "id": "MONDO:0012211",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012211",
            "categories": []
        },
        {
            "id": "MIM:609180",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609180",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O75352-1",
            "uniprot_ac": "O75352",
            "uniprot_id": "MPU1_HUMAN",
            "refseq_ac": "NP_001317002",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-P-dolichol utilization defect 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "HBeAg-binding protein 2 binding protein A",
                    "type": "synonym"
                },
                {
                    "name": "SL15",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of Lec15 and Lec35 glycosylation mutation homolog",
                    "type": "synonym"
                },
                {
                    "name": "mannose-P-dolichol utilization defect 1 protein isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "mannose-P-dolichol utilization defect 1 protein",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of Lec15 and Lec35 glycosylation mutation homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MPDU1",
                    "type": "recommended"
                },
                {
                    "name": "CDGIF",
                    "type": "synonym"
                },
                {
                    "name": "HBEBP2BPA",
                    "type": "synonym"
                },
                {
                    "name": "Lec35",
                    "type": "synonym"
                },
                {
                    "name": "MPDU1",
                    "type": "synonym"
                },
                {
                    "name": "My008",
                    "type": "synonym"
                },
                {
                    "name": "PP3958",
                    "type": "synonym"
                },
                {
                    "name": "PQLC5",
                    "type": "synonym"
                },
                {
                    "name": "SL15",
                    "type": "synonym"
                },
                {
                    "name": "SLC66A5",
                    "type": "synonym"
                }
            ],
            "record_id": "O75352-1",
            "evidence": [
                {
                    "id": "9526",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/9526#disease"
                },
                {
                    "id": "0012211",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012211"
                },
                {
                    "id": "609180",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609180"
                },
                {
                    "id": "MPDU1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/MPDU1/#!details"
                },
                {
                    "id": "0080558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R0Q9-1",
            "uniprot_ac": "Q9R0Q9",
            "uniprot_id": "MPU1_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-P-dolichol utilization defect 1 protein",
                    "type": "recommended"
                },
                {
                    "name": "SL15",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of Lec15 and Lec35 glycosylation mutation homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpdu1",
                    "type": "recommended"
                },
                {
                    "name": "Supl15h",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R0Q9-1",
            "evidence": [
                {
                    "id": "0080558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6B3Y3-1",
            "uniprot_ac": "A0A8I6B3Y3",
            "uniprot_id": "A0A8I6B3Y3_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": "Mannose-P-dolichol utilization defect 1 protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Mpdu1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6B3Y3-1",
            "evidence": [
                {
                    "id": "0080558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080558"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VMW8-1",
            "uniprot_ac": "Q9VMW8",
            "uniprot_id": "MPU1_DROME",
            "refseq_ac": "NP_608889",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannose-P-dolichol utilization defect 1 protein homolog",
                    "type": "recommended"
                },
                {
                    "name": "CG3792-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG3792",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3792",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey8",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VMW8-1",
            "evidence": [
                {
                    "id": "0080558",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080558"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080558"
}