{
    "disease_id": "DOID:0080520",
    "recommended_name": {
        "id": "DOID:0080520",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080520",
        "name": "Tn polyagglutination syndrome",
        "description": "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24."
    },
    "synonyms": [
        {
            "id": "DOID:0080520",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080520",
            "name": "galactosyltransferase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0010381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010381",
            "name": "Tn polyagglutination syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010381",
            "name": "Tn polyagglutination syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010381",
            "name": "Tn polyagglutination syndrome, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0010381",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010381",
            "name": "TNPS",
            "description": ""
        },
        {
            "id": "MIM:300622",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300622",
            "name": "Tn polyagglutination syndrome",
            "description": "Tn polyagglutination syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080520"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080520",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080520",
            "categories": []
        },
        {
            "id": "MONDO:0010381",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010381",
            "categories": []
        },
        {
            "id": "MIM:300622",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300622",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96EU7-1",
            "uniprot_ac": "Q96EU7",
            "uniprot_id": "C1GLC_HUMAN",
            "refseq_ac": "NP_001011551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "C1Gal-T2",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT2",
                    "type": "synonym"
                },
                {
                    "name": "C38H2-L1",
                    "type": "synonym"
                },
                {
                    "name": "C38H2-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T2",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-galactosyltransferase-specific molecular chaperone",
                    "type": "synonym"
                },
                {
                    "name": "beta 1,3-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T-specific molecular chaperone",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T2",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-galactosyltransferase-specific molecular chaperone",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1GALT1C1",
                    "type": "recommended"
                },
                {
                    "name": "AHUS8",
                    "type": "synonym"
                },
                {
                    "name": "C1GALT1C1",
                    "type": "synonym"
                },
                {
                    "name": "C1GALT2",
                    "type": "synonym"
                },
                {
                    "name": "C38H2-L1",
                    "type": "synonym"
                },
                {
                    "name": "COSMC",
                    "type": "synonym"
                },
                {
                    "name": "HSPC067",
                    "type": "synonym"
                },
                {
                    "name": "MST143",
                    "type": "synonym"
                },
                {
                    "name": "MSTP143",
                    "type": "synonym"
                },
                {
                    "name": "PRO310",
                    "type": "synonym"
                },
                {
                    "name": "TNPS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96EU7-1",
            "evidence": [
                {
                    "id": "29071",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/29071#disease"
                },
                {
                    "id": "0010381",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0010381"
                },
                {
                    "id": "300622",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300622"
                },
                {
                    "id": "0080520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FBK8-1",
            "uniprot_ac": "E7FBK8",
            "uniprot_id": "E7FBK8_DANRE",
            "refseq_ac": "NP_955961",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c1galt1c1",
                    "type": "recommended"
                },
                {
                    "name": "c1galt1c1",
                    "type": "synonym"
                },
                {
                    "name": "fc59b02",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc17f08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc59b02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66375",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FBK8-1",
            "evidence": [
                {
                    "id": "0080520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JMG2-1",
            "uniprot_ac": "Q9JMG2",
            "uniprot_id": "C1GLC_MOUSE",
            "refseq_ac": "NP_067525",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "C1Gal-T2",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT2",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T2",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-galactosyltransferase-specific molecular chaperone",
                    "type": "synonym"
                },
                {
                    "name": "beta1,3-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T2",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-galactosyltransferase-specific molecular chaperone",
                    "type": "synonym"
                },
                {
                    "name": "mC1Gal-T2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1galt1c1",
                    "type": "recommended"
                },
                {
                    "name": "1500002I11Rik",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT2",
                    "type": "synonym"
                },
                {
                    "name": "C1galt1c1",
                    "type": "synonym"
                },
                {
                    "name": "Cosmc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JMG2-1",
            "evidence": [
                {
                    "id": "0080520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q499P3-1",
            "uniprot_ac": "Q499P3",
            "uniprot_id": "C1GLC_RAT",
            "refseq_ac": "NP_001025204",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "recommended"
                },
                {
                    "name": "C1GALT1-specific chaperone 1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1galt1c1",
                    "type": "recommended"
                },
                {
                    "name": "C1galt1c1",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311230",
                    "type": "synonym"
                }
            ],
            "record_id": "Q499P3-1",
            "evidence": [
                {
                    "id": "0080520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080520"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080520"
}