{
    "disease_id": "DOID:0110119",
    "recommended_name": {
        "id": "DOID:0110119",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110119",
        "name": "autoimmune lymphoproliferative syndrome type 3",
        "description": "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21."
    },
    "synonyms": [
        {
            "id": "DOID:0110119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110119",
            "name": "ALPS3",
            "description": ""
        },
        {
            "id": "DOID:0110119",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110119",
            "name": "autoimmune lymphoproliferative syndrome type III",
            "description": ""
        },
        {
            "id": "MONDO:8000024",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000024",
            "name": "autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD",
            "description": "Any autoimmune lymphoproliferative syndrome in which the cause of the disease is a mutation in the PRKCD gene."
        },
        {
            "id": "MIM:615559",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615559",
            "name": "Autoimmune lymphoproliferative syndrome 3",
            "description": "Autoimmune lymphoproliferative syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110119"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110119",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110119",
            "categories": []
        },
        {
            "id": "MONDO:8000024",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:8000024",
            "categories": []
        },
        {
            "id": "MIM:615559",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615559",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QDJ7-1",
            "uniprot_ac": "A0A8M9QDJ7",
            "uniprot_id": "A0A8M9QDJ7_DANRE",
            "refseq_ac": "NP_001352166",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C delta type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "nPKC-delta",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C, delta b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "prkcdb",
                    "type": "recommended"
                },
                {
                    "name": "prkcdb",
                    "type": "synonym"
                },
                {
                    "name": "prkcd",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9QDJ7-1",
            "evidence": [
                {
                    "id": "0110119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P28867-1",
            "uniprot_ac": "P28867",
            "uniprot_id": "KPCD_MOUSE",
            "refseq_ac": "NP_035233",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C delta type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "SDK1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine-dependent protein kinase-1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase PRKCD",
                    "type": "synonym"
                },
                {
                    "name": "nPKC-delta",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta type isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta type",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C, delta IV",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C, delta V",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C[d]",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase PRKCD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkcd",
                    "type": "recommended"
                },
                {
                    "name": "D14Ertd420e",
                    "type": "synonym"
                },
                {
                    "name": "PKC[d]",
                    "type": "synonym"
                },
                {
                    "name": "PKCdelta",
                    "type": "synonym"
                },
                {
                    "name": "Pkcd",
                    "type": "synonym"
                },
                {
                    "name": "Prkcd",
                    "type": "synonym"
                }
            ],
            "record_id": "P28867-1",
            "evidence": [
                {
                    "id": "0110119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05655-1",
            "uniprot_ac": "Q05655",
            "uniprot_id": "KPCD_HUMAN",
            "refseq_ac": "NP_001303256",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C delta type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.2",
                    "type": "synonym"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "SDK1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine-dependent protein kinase-1",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase PRKCD",
                    "type": "synonym"
                },
                {
                    "name": "nPKC-delta",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta VIII",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta type isoform c",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta type",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase PRKCD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PRKCD",
                    "type": "recommended"
                },
                {
                    "name": "ALPS3",
                    "type": "synonym"
                },
                {
                    "name": "CVID9",
                    "type": "synonym"
                },
                {
                    "name": "MAY1",
                    "type": "synonym"
                },
                {
                    "name": "PKCD",
                    "type": "synonym"
                },
                {
                    "name": "PRKCD",
                    "type": "synonym"
                },
                {
                    "name": "nPKC-delta",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05655-1",
            "evidence": [
                {
                    "id": "615559",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615559"
                },
                {
                    "id": "0110119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24583-1",
            "uniprot_ac": "P24583",
            "uniprot_id": "KPC1_YEAST",
            "refseq_ac": "NP_009445",
            "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": "Protein kinase C-like 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "PKC 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PKC1",
                    "type": "recommended"
                },
                {
                    "name": "CLY15",
                    "type": "synonym"
                },
                {
                    "name": "CLY5",
                    "type": "synonym"
                },
                {
                    "name": "CLY7",
                    "type": "synonym"
                },
                {
                    "name": "HPO2",
                    "type": "synonym"
                },
                {
                    "name": "PKC1",
                    "type": "synonym"
                },
                {
                    "name": "RSF8",
                    "type": "synonym"
                },
                {
                    "name": "STT1",
                    "type": "synonym"
                },
                {
                    "name": "YBL0807",
                    "type": "synonym"
                }
            ],
            "record_id": "P24583-1",
            "evidence": [
                {
                    "id": "0110119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09215-1",
            "uniprot_ac": "P09215",
            "uniprot_id": "KPCD_RAT",
            "refseq_ac": "NP_579841",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein kinase C delta type",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "SDK1",
                    "type": "synonym"
                },
                {
                    "name": "Sphingosine-dependent protein kinase-1",
                    "type": "synonym"
                },
                {
                    "name": "nPKC-delta",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta type",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Prkcd",
                    "type": "recommended"
                },
                {
                    "name": "Pkcd",
                    "type": "synonym"
                },
                {
                    "name": "Prkcd",
                    "type": "synonym"
                }
            ],
            "record_id": "P09215-1",
            "evidence": [
                {
                    "id": "0110119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110119"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P83099-1",
            "uniprot_ac": "P83099",
            "uniprot_id": "KPC4_DROME",
            "refseq_ac": "NP_001138191",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Putative protein kinase C delta type homolog",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.13",
                    "type": "synonym"
                },
                {
                    "name": "CG42349-PD",
                    "type": "synonym"
                },
                {
                    "name": "Pkcdelta-PD",
                    "type": "synonym"
                },
                {
                    "name": "myofibrillar defect",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase C delta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pkcdelta",
                    "type": "recommended"
                },
                {
                    "name": "CG10524",
                    "type": "synonym"
                },
                {
                    "name": "CG11245",
                    "type": "synonym"
                },
                {
                    "name": "CG42349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42349",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42349",
                    "type": "synonym"
                },
                {
                    "name": "PKCdelta",
                    "type": "synonym"
                },
                {
                    "name": "PKCd",
                    "type": "synonym"
                },
                {
                    "name": "Pkcdelta",
                    "type": "synonym"
                },
                {
                    "name": "delta PKC",
                    "type": "synonym"
                },
                {
                    "name": "mfd",
                    "type": "synonym"
                }
            ],
            "record_id": "P83099-1",
            "evidence": [
                {
                    "id": "0110119",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110119"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110119"
}