{
    "disease_id": "DOID:0061170",
    "recommended_name": {
        "id": "DOID:0061170",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061170",
        "name": "autoinflammation, panniculitis, and dermatosis syndrome",
        "description": "An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity."
    },
    "synonyms": [
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "AIPDS",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "Autoinflammation, panniculitis, and dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "ORAS",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "autoinflammation, panniculitis and dermatosis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "otulin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "otulin-related autoinflammatory syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014912",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "name": "otulipenia",
            "description": ""
        },
        {
            "id": "MIM:617099",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617099",
            "name": "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive",
            "description": "Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive"
        }
    ],
    "children": [
        {
            "id": "DOID:0061169",
            "label": "autosomal dominant autoinflammation, panniculitis, and dermatosis syndrome",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080163",
            "label": "autosomal recessive autoinflammation, panniculitis, and dermatosis syndrome",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061170",
        "DOID:0061169",
        "DOID:0080163"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061170",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061170",
            "categories": []
        },
        {
            "id": "MONDO:0014912",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014912",
            "categories": []
        },
        {
            "id": "MIM:617099",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617099",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q96BN8-1",
            "uniprot_ac": "Q96BN8",
            "uniprot_id": "OTUL_HUMAN",
            "refseq_ac": "NP_612357",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin thioesterase otulin",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Deubiquitinating enzyme otulin",
                    "type": "synonym"
                },
                {
                    "name": "OTU domain-containing deubiquitinase with linear linkage specificity",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin thioesterase Gumby",
                    "type": "synonym"
                },
                {
                    "name": "deubiquitinating enzyme otulin",
                    "type": "synonym"
                },
                {
                    "name": "family with sequence similarity 105, member B",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase Gumby",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase otulin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin thioesterase otulin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OTULIN",
                    "type": "recommended"
                },
                {
                    "name": "AIPDSA",
                    "type": "synonym"
                },
                {
                    "name": "AIPDS",
                    "type": "synonym"
                },
                {
                    "name": "FAM105B",
                    "type": "synonym"
                },
                {
                    "name": "GUM",
                    "type": "synonym"
                },
                {
                    "name": "IMD107",
                    "type": "synonym"
                },
                {
                    "name": "OTULIN",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96BN8-1",
            "evidence": [
                {
                    "id": "617099",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617099"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061170"
}