{
    "disease_id": "DOID:0060050",
    "recommended_name": {
        "id": "DOID:0060050",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060050",
        "name": "autoimmune disease of blood",
        "description": "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:12132",
            "label": "granulomatosis with polyangiitis",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:8925",
            "label": "primary thrombocytopenia",
            "link_status": false,
            "children": [
                {
                    "id": "DOID:8924",
                    "label": "autoimmune thrombocytopenic purpura",
                    "link_status": true,
                    "children": []
                }
            ]
        }
    ],
    "id_list": [
        "DOID:8925",
        "DOID:12132",
        "DOID:8924",
        "DOID:0060050"
    ],
    "unlinked_id_list": [
        "DOID:8925"
    ],
    "crossref": [
        {
            "id": "DOID:0060050",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060050",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q08BL3-1",
            "uniprot_ac": "Q08BL3",
            "uniprot_id": "C1GTA_DANRE",
            "refseq_ac": "NP_001070842",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1-A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.122",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1-A",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 O-glycan T-synthase A",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1-A",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 1-A",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T1-A",
                    "type": "synonym"
                },
                {
                    "name": "c1galt1l",
                    "type": "synonym"
                },
                {
                    "name": "core 1 O-glycan T-synthase A",
                    "type": "synonym"
                },
                {
                    "name": "core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1-A",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase 1-A",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T-A",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T1-A",
                    "type": "synonym"
                },
                {
                    "name": "core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1, like",
                    "type": "synonym"
                },
                {
                    "name": "core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1a",
                    "type": "synonym"
                },
                {
                    "name": "core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1-A",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c1galt1la",
                    "type": "recommended"
                },
                {
                    "name": "c1galt1a",
                    "type": "synonym"
                },
                {
                    "name": "c1galt1la",
                    "type": "synonym"
                },
                {
                    "name": "fi11c09",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi11c09",
                    "type": "synonym"
                },
                {
                    "name": "zgc:153355",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08BL3-1",
            "evidence": [
                {
                    "id": "0060050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7SYI5-1",
            "uniprot_ac": "Q7SYI5",
            "uniprot_id": "C1GTB_DANRE",
            "refseq_ac": "NP_956345",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1-B",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.122",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1-B",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 O-glycan T-synthase B",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1-B",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 1-B",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T1-B",
                    "type": "synonym"
                },
                {
                    "name": "core 1 O-glycan T-synthase B",
                    "type": "synonym"
                },
                {
                    "name": "core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1-B",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase 1-B",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T-B",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T1-B",
                    "type": "synonym"
                },
                {
                    "name": "core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1b",
                    "type": "synonym"
                },
                {
                    "name": "core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1-B",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "c1galt1lb",
                    "type": "recommended"
                },
                {
                    "name": "c1galt1b",
                    "type": "synonym"
                },
                {
                    "name": "c1galt1lb",
                    "type": "synonym"
                },
                {
                    "name": "c1galt1",
                    "type": "synonym"
                },
                {
                    "name": "fa98f05",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa98f05",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66485",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SYI5-1",
            "evidence": [
                {
                    "id": "0060050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJ06-1",
            "uniprot_ac": "Q9JJ06",
            "uniprot_id": "C1GLT_MOUSE",
            "refseq_ac": "NP_443719",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.122",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "T-syn",
                    "type": "synonym"
                },
                {
                    "name": "core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1galt1",
                    "type": "recommended"
                },
                {
                    "name": "2210410E06Rik",
                    "type": "synonym"
                },
                {
                    "name": "C1galt1",
                    "type": "synonym"
                },
                {
                    "name": "Plt1",
                    "type": "synonym"
                },
                {
                    "name": "T-synthase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJ06-1",
            "evidence": [
                {
                    "id": "0060050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJ05-1",
            "uniprot_ac": "Q9JJ05",
            "uniprot_id": "C1GLT_RAT",
            "refseq_ac": "NP_075239",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.122",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T",
                    "type": "synonym"
                },
                {
                    "name": "core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase (C1galt1)",
                    "type": "synonym"
                },
                {
                    "name": "core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "core1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 13-galactosyltransferase (C1galt1)",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1galt1",
                    "type": "recommended"
                },
                {
                    "name": "C1galt1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJ05-1",
            "evidence": [
                {
                    "id": "0060050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K237-1",
            "uniprot_ac": "Q7K237",
            "uniprot_id": "C1GLT_DROME",
            "refseq_ac": "NP_609258",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.122",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1",
                    "type": "synonym"
                },
                {
                    "name": "C1GalTA-PB",
                    "type": "synonym"
                },
                {
                    "name": "CG9520-PB",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta1,3-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "core 1 galactosyltransferase A, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1GalTA",
                    "type": "recommended"
                },
                {
                    "name": "C1GALT1",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1",
                    "type": "synonym"
                },
                {
                    "name": "C1GalTA",
                    "type": "synonym"
                },
                {
                    "name": "C1beta3GalT1",
                    "type": "synonym"
                },
                {
                    "name": "CG9520",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9520",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9520",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0144478.18",
                    "type": "synonym"
                },
                {
                    "name": "dC1GalT1",
                    "type": "synonym"
                },
                {
                    "name": "dC1GalT",
                    "type": "synonym"
                },
                {
                    "name": "dC1beta3GalT1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K237-1",
            "evidence": [
                {
                    "id": "0060050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060050"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NS00-1",
            "uniprot_ac": "Q9NS00",
            "uniprot_id": "C1GLT_HUMAN",
            "refseq_ac": "NP_064541",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.122",
                    "type": "synonym"
                },
                {
                    "name": "B3Gal-T8",
                    "type": "synonym"
                },
                {
                    "name": "Beta-1,3-galactosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "C1GalT1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "Core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 O-glycan T-synthase",
                    "type": "synonym"
                },
                {
                    "name": "core 1 UDP-galactose:N-acetylgalactosamine-alpha-R beta 1,3-galactosyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "core 1 beta3-Gal-T1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "C1GALT1",
                    "type": "recommended"
                },
                {
                    "name": "C1GALT1",
                    "type": "synonym"
                },
                {
                    "name": "C1GALT",
                    "type": "synonym"
                },
                {
                    "name": "T-synthase",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NS00-1",
            "evidence": [
                {
                    "id": "0060050",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060050"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060050"
}