{
    "disease_id": "DOID:0060914",
    "recommended_name": {
        "id": "DOID:0060914",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060914",
        "name": "proteosome-associated autoinflammatory syndrome 2",
        "description": "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12."
    },
    "synonyms": [
        {
            "id": "DOID:0060914",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060914",
            "name": "PRAAS2",
            "description": ""
        },
        {
            "id": "MONDO:0054700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054700",
            "name": "proteasome-associated autoinflammatory syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054700",
            "name": "proteasome-associated autoinflammatory syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0054700",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054700",
            "name": "PRAAS2",
            "description": ""
        },
        {
            "id": "MIM:618048",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618048",
            "name": "Proteasome-associated autoinflammatory syndrome 2",
            "description": "Proteasome-associated autoinflammatory syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060914"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060914",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060914",
            "categories": []
        },
        {
            "id": "MONDO:0054700",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0054700",
            "categories": []
        },
        {
            "id": "MIM:618048",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618048",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CQT5-1",
            "uniprot_ac": "Q9CQT5",
            "uniprot_id": "POMP_MOUSE",
            "refseq_ac": "NP_079900",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome maturation protein",
                    "type": "recommended"
                },
                {
                    "name": "Proteassemblin",
                    "type": "synonym"
                },
                {
                    "name": "Protein UMP1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "mUMP1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome maturation protein",
                    "type": "synonym"
                },
                {
                    "name": "proteassemblin",
                    "type": "synonym"
                },
                {
                    "name": "protein UMP1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomp",
                    "type": "recommended"
                },
                {
                    "name": "2510048O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pomp",
                    "type": "synonym"
                },
                {
                    "name": "Ump1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQT5-1",
            "evidence": [
                {
                    "id": "0060914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y244-1",
            "uniprot_ac": "Q9Y244",
            "uniprot_id": "POMP_HUMAN",
            "refseq_ac": "NP_057016",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proteasome maturation protein",
                    "type": "recommended"
                },
                {
                    "name": "2510048O06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Proteassemblin",
                    "type": "synonym"
                },
                {
                    "name": "Protein UMP1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated K channel beta subunit 4.1",
                    "type": "synonym"
                },
                {
                    "name": "hUMP1",
                    "type": "synonym"
                },
                {
                    "name": "proteasome maturation protein",
                    "type": "synonym"
                },
                {
                    "name": "proteassemblin",
                    "type": "synonym"
                },
                {
                    "name": "protein UMP1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K channel beta subunit 4.1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel beta subunit 4.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POMP",
                    "type": "recommended"
                },
                {
                    "name": "C13orf12",
                    "type": "synonym"
                },
                {
                    "name": "HSPC014",
                    "type": "synonym"
                },
                {
                    "name": "HSPC036",
                    "type": "synonym"
                },
                {
                    "name": "PNAS-110",
                    "type": "synonym"
                },
                {
                    "name": "POMP",
                    "type": "synonym"
                },
                {
                    "name": "PRAAS2",
                    "type": "synonym"
                },
                {
                    "name": "UMP1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y244-1",
            "evidence": [
                {
                    "id": "618048",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618048"
                },
                {
                    "id": "0060914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38293-1",
            "uniprot_ac": "P38293",
            "uniprot_id": "UMP1_YEAST",
            "refseq_ac": "NP_009732",
            "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": "Proteasome maturation factor UMP1",
                    "type": "recommended"
                },
                {
                    "name": "Ump1p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "UMP1",
                    "type": "recommended"
                },
                {
                    "name": "RNS2",
                    "type": "synonym"
                },
                {
                    "name": "UMP1",
                    "type": "synonym"
                },
                {
                    "name": "YBR1234",
                    "type": "synonym"
                }
            ],
            "record_id": "P38293-1",
            "evidence": [
                {
                    "id": "0060914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RBE4-1",
            "uniprot_ac": "M0RBE4",
            "uniprot_id": "M0RBE4_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": "Proteasome maturation protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomp",
                    "type": "recommended"
                }
            ],
            "record_id": "M0RBE4-1",
            "evidence": [
                {
                    "id": "0060914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060914"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIJ5-1",
            "uniprot_ac": "Q9VIJ5",
            "uniprot_id": "Q9VIJ5_DROME",
            "refseq_ac": "NP_610057",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "20S maturase",
                    "type": "synonym"
                },
                {
                    "name": "CG9324-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pomp-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pomp",
                    "type": "synonym"
                },
                {
                    "name": "maturase",
                    "type": "synonym"
                },
                {
                    "name": "pomp",
                    "type": "synonym"
                },
                {
                    "name": "proteosome maturation protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pomp",
                    "type": "recommended"
                },
                {
                    "name": "38E.20",
                    "type": "synonym"
                },
                {
                    "name": "CG9324",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9324",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9324",
                    "type": "synonym"
                },
                {
                    "name": "POMP",
                    "type": "synonym"
                },
                {
                    "name": "Pomp",
                    "type": "synonym"
                },
                {
                    "name": "UMP1",
                    "type": "synonym"
                },
                {
                    "name": "pomp",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIJ5-1",
            "evidence": [
                {
                    "id": "0060914",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060914"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060914"
}