{
    "disease_id": "DOID:0111281",
    "recommended_name": {
        "id": "DOID:0111281",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111281",
        "name": "psoriasis 15",
        "description": "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111281",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111281",
            "name": "PSORS15",
            "description": ""
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "psoriasis 15, pustular, susceptibility to",
            "description": "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene."
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "AP1S3 generalised pustular psoriasis",
            "description": ""
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "AP1S3 generalized pustular psoriasis",
            "description": ""
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "generalised pustular psoriasis caused by mutation in AP1S3",
            "description": ""
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "generalized pustular psoriasis caused by mutation in AP1S3",
            "description": ""
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "psoriasis 15, pustular, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0014494",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "name": "PSORS15",
            "description": ""
        },
        {
            "id": "MIM:616106",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616106",
            "name": "Psoriasis 15, pustular",
            "description": "Psoriasis 15, pustular"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111281"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111281",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111281",
            "categories": []
        },
        {
            "id": "MONDO:0014494",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014494",
            "categories": []
        },
        {
            "id": "MIM:616106",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616106",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AT20-1",
            "uniprot_ac": "A0A8M3AT20",
            "uniprot_id": "A0A8M3AT20_DANRE",
            "refseq_ac": "XP_009290225",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP complex subunit sigma",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-3a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ap1s3a",
                    "type": "recommended"
                },
                {
                    "name": "ap1s3a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112172",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AT20-1",
            "evidence": [
                {
                    "id": "0111281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TN05-1",
            "uniprot_ac": "Q7TN05",
            "uniprot_id": "AP1S3_MOUSE",
            "refseq_ac": "NP_898848",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-3",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-3",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1C small chain",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor HA1/AP1 adaptin sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1C subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 1C",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1C-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 1 sigma-1C small chain",
                    "type": "synonym"
                },
                {
                    "name": "golgi adaptor HA1/AP1 adaptin sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1C subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "sigma-adaptin 1C",
                    "type": "synonym"
                },
                {
                    "name": "sigma1C-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap1s3",
                    "type": "recommended"
                },
                {
                    "name": "1190009B22",
                    "type": "synonym"
                },
                {
                    "name": "Ap1s3",
                    "type": "synonym"
                },
                {
                    "name": "Jr2",
                    "type": "synonym"
                },
                {
                    "name": "[s]3A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TN05-1",
            "evidence": [
                {
                    "id": "0111281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96PC3-1",
            "uniprot_ac": "Q96PC3",
            "uniprot_id": "AP1S3_HUMAN",
            "refseq_ac": "NP_001034658",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-1 complex subunit sigma-3",
                    "type": "recommended"
                },
                {
                    "name": "AP-1 complex subunit sigma-3",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor protein complex AP-1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "Adaptor-related protein complex 1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1C small chain",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor HA1/AP1 adaptin sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma 1C subunit of AP-1 clathrin",
                    "type": "synonym"
                },
                {
                    "name": "Sigma-adaptin 1C",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1C-adaptin",
                    "type": "synonym"
                },
                {
                    "name": "adapter-related protein complex 1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "adaptor protein complex AP-1 sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor related protein complex 1 sigma 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "adaptor-related protein complex 1 subunit sigma-1C",
                    "type": "synonym"
                },
                {
                    "name": "clathrin assembly protein complex 1 sigma-1C small chain",
                    "type": "synonym"
                },
                {
                    "name": "golgi adaptor HA1/AP1 adaptin sigma-1C subunit",
                    "type": "synonym"
                },
                {
                    "name": "sigma 1C subunit of AP-1 clathrin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "AP1S3",
                    "type": "recommended"
                },
                {
                    "name": "AP1S3",
                    "type": "synonym"
                },
                {
                    "name": "PSORS15",
                    "type": "synonym"
                },
                {
                    "name": "sigma1C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96PC3-1",
            "evidence": [
                {
                    "id": "616106",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616106"
                },
                {
                    "id": "0111281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35181-1",
            "uniprot_ac": "P35181",
            "uniprot_id": "AP1S1_YEAST",
            "refseq_ac": "NP_013271",
            "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": "AP-1 complex subunit sigma-1",
                    "type": "recommended"
                },
                {
                    "name": "Aps1p",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin assembly protein complex 1 sigma-1 small chain",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat assembly protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Clathrin coat-associated protein AP19",
                    "type": "synonym"
                },
                {
                    "name": "Golgi adaptor AP-1 19 kDa adaptin",
                    "type": "synonym"
                },
                {
                    "name": "HA1 19 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sigma1-adaptin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APS1",
                    "type": "recommended"
                },
                {
                    "name": "APS1",
                    "type": "synonym"
                },
                {
                    "name": "L9470.16",
                    "type": "synonym"
                },
                {
                    "name": "YAP19",
                    "type": "synonym"
                }
            ],
            "record_id": "P35181-1",
            "evidence": [
                {
                    "id": "0111281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111281"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0L464-1",
            "uniprot_ac": "A0ABK0L464",
            "uniprot_id": "A0ABK0L464_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": "Adaptor related protein complex 1 subunit sigma 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ap1s3",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0L464-1",
            "evidence": [
                {
                    "id": "0111281",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111281"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111281"
}