{
    "disease_id": "DOID:0080566",
    "recommended_name": {
        "id": "DOID:0080566",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080566",
        "name": "congenital disorder of glycosylation In",
        "description": "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0080566",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080566",
            "name": "congenital disorder of glycosylation 1n",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-congenital disorder of glycosylation",
            "description": "RFT1-CDG is a form of congenital disorders of N-linked glycosylation characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; roving eyes; developmental delay; poor to absent visual contact; and sensorineural hearing loss. Additional features that may be observed include coagulation factor abnormalities, inverted nipples and microcephaly. The disease is caused by mutations in the gene RFT1 (3p21.1)."
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDG syndrome type In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDG-In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDG1N",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "Man5GlcNAc2-PP-Dol flippase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-congenital disorder of glycosylation",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "carbohydrate deficient glycoprotein syndrome type In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "congenital disorder of glycosylation type 1n",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "congenital disorder of glycosylation type In",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "CDGIN",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "RFT1-CDG (CDG-In)",
            "description": ""
        },
        {
            "id": "MONDO:0012783",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "name": "congenital disorder of glycosylation, type In",
            "description": ""
        },
        {
            "id": "MIM:612015",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612015",
            "name": "Congenital disorder of glycosylation 1N",
            "description": "Congenital disorder of glycosylation 1N"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080566"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080566",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080566",
            "categories": []
        },
        {
            "id": "MONDO:0012783",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012783",
            "categories": []
        },
        {
            "id": "MIM:612015",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612015",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96AA3-1",
            "uniprot_ac": "Q96AA3",
            "uniprot_id": "RFT1_HUMAN",
            "refseq_ac": "NP_443091",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "recommended"
                },
                {
                    "name": "Protein RFT1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "RFT1, requiring fifty three 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "congenital disorder of glycosylation 1N",
                    "type": "synonym"
                },
                {
                    "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "synonym"
                },
                {
                    "name": "protein RFT1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "putative endoplasmic reticulum multispan transmembrane protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RFT1",
                    "type": "recommended"
                },
                {
                    "name": "CDG1N",
                    "type": "synonym"
                },
                {
                    "name": "RFT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC76A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96AA3-1",
            "evidence": [
                {
                    "id": "91869",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/91869#disease"
                },
                {
                    "id": "0012783",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0012783"
                },
                {
                    "id": "612015",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612015"
                },
                {
                    "id": "0080566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7EXE6-1",
            "uniprot_ac": "E7EXE6",
            "uniprot_id": "E7EXE6_DANRE",
            "refseq_ac": "XP_688354",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein RFT1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rft1",
                    "type": "recommended"
                },
                {
                    "name": "rft1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EXE6-1",
            "evidence": [
                {
                    "id": "0080566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C3B8-1",
            "uniprot_ac": "Q8C3B8",
            "uniprot_id": "RFT1_MOUSE",
            "refseq_ac": "NP_808483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "recommended"
                },
                {
                    "name": "Protein RFT1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "synonym"
                },
                {
                    "name": "protein RFT1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rft1",
                    "type": "recommended"
                },
                {
                    "name": "D930025H04",
                    "type": "synonym"
                },
                {
                    "name": "Rft1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C3B8-1",
            "evidence": [
                {
                    "id": "0080566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38206-1",
            "uniprot_ac": "P38206",
            "uniprot_id": "RFT1_YEAST",
            "refseq_ac": "NP_009533",
            "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": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "recommended"
                },
                {
                    "name": "Requiring fifty-three protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glycolipid translocation protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RFT1",
                    "type": "recommended"
                },
                {
                    "name": "RFT1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0442",
                    "type": "synonym"
                }
            ],
            "record_id": "P38206-1",
            "evidence": [
                {
                    "id": "0080566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A6W4-1",
            "uniprot_ac": "D4A6W4",
            "uniprot_id": "D4A6W4_RAT",
            "refseq_ac": "NP_001129338",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein RFT1 homolog",
                    "type": "recommended"
                },
                {
                    "name": "RFT1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein RFT1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rft1",
                    "type": "recommended"
                },
                {
                    "name": "RGD1562654",
                    "type": "synonym"
                },
                {
                    "name": "Rft1",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A6W4-1",
            "evidence": [
                {
                    "id": "0080566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080566"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NWF4-1",
            "uniprot_ac": "Q9NWF4",
            "uniprot_id": "S52A1_HUMAN",
            "refseq_ac": "NP_001098047",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 52, riboflavin transporter, member 1",
                    "type": "recommended"
                },
                {
                    "name": "G protein-coupled receptor 172B",
                    "type": "synonym"
                },
                {
                    "name": "G-protein coupled receptor GPCR42",
                    "type": "synonym"
                },
                {
                    "name": "PERV-A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Porcine endogenous retrovirus A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein GPR172B",
                    "type": "synonym"
                },
                {
                    "name": "Riboflavin transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "hRFT1",
                    "type": "synonym"
                },
                {
                    "name": "huPAR-2",
                    "type": "synonym"
                },
                {
                    "name": "porcine endogenous retrovirus A receptor 2",
                    "type": "synonym"
                },
                {
                    "name": "riboflavin transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52 (riboflavin transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 52, riboflavin transporter, member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC52A1",
                    "type": "recommended"
                },
                {
                    "name": "GPCR42",
                    "type": "synonym"
                },
                {
                    "name": "GPR172B",
                    "type": "synonym"
                },
                {
                    "name": "PAR2",
                    "type": "synonym"
                },
                {
                    "name": "RBFVD",
                    "type": "synonym"
                },
                {
                    "name": "RFT1",
                    "type": "synonym"
                },
                {
                    "name": "RFVT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC52A1",
                    "type": "synonym"
                },
                {
                    "name": "hRFT1",
                    "type": "synonym"
                },
                {
                    "name": "huPAR-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NWF4-1",
            "evidence": [
                {
                    "id": "RFT1",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/RFT1/#!details"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y123-1",
            "uniprot_ac": "Q9Y123",
            "uniprot_id": "RFT1_DROME",
            "refseq_ac": "NP_572246",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Man(5)GlcNAc(2)-PP-dolichol translocation protein RFT1",
                    "type": "recommended"
                },
                {
                    "name": "CG3149-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein RFT1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BcDNA:GH08388",
                    "type": "synonym"
                },
                {
                    "name": "CG3149",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3149",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y123-1",
            "evidence": [
                {
                    "id": "0080566",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080566"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080566"
}