{
    "disease_id": "DOID:0081451",
    "recommended_name": {
        "id": "DOID:0081451",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081451",
        "name": "PFAPA syndrome",
        "description": "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis."
    },
    "synonyms": [
        {
            "id": "DOID:0081451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081451",
            "name": "Marshall syndrome with periodic fever",
            "description": ""
        },
        {
            "id": "DOID:0081451",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081451",
            "name": "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081451"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081451",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081451",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8K3Z0-1",
            "uniprot_ac": "Q8K3Z0",
            "uniprot_id": "NOD2_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide-binding oligomerization domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Caspase recruitment domain-containing protein 15",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Nod2",
                    "type": "recommended"
                },
                {
                    "name": "Card15",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8K3Z0-1",
            "evidence": [
                {
                    "id": "0081451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A5W3-1",
            "uniprot_ac": "D4A5W3",
            "uniprot_id": "D4A5W3_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": "Protein naked cuticle homolog",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Nod2",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A5W3-1",
            "evidence": [
                {
                    "id": "0081451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081451"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC29-1",
            "uniprot_ac": "Q9HC29",
            "uniprot_id": "NOD2_HUMAN",
            "refseq_ac": "NP_001280486",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nucleotide-binding oligomerization domain-containing protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Caspase recruitment domain-containing protein 15",
                    "type": "synonym"
                },
                {
                    "name": "Inflammatory bowel disease protein 1",
                    "type": "synonym"
                },
                {
                    "name": "NLR family, CARD domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "NOD-like receptor C2",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain family, member 15",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain protein 15",
                    "type": "synonym"
                },
                {
                    "name": "caspase recruitment domain-containing protein 15",
                    "type": "synonym"
                },
                {
                    "name": "inflammatory bowel disease protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding oligomerization domain 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding oligomerization domain-containing protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nucleotide-binding oligomerization domain-containing protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOD2",
                    "type": "recommended"
                },
                {
                    "name": "ACUG",
                    "type": "synonym"
                },
                {
                    "name": "BLAUS",
                    "type": "synonym"
                },
                {
                    "name": "BLAU",
                    "type": "synonym"
                },
                {
                    "name": "CARD15",
                    "type": "synonym"
                },
                {
                    "name": "CD",
                    "type": "synonym"
                },
                {
                    "name": "CLR16.3",
                    "type": "synonym"
                },
                {
                    "name": "IBD1",
                    "type": "synonym"
                },
                {
                    "name": "NLRC2",
                    "type": "synonym"
                },
                {
                    "name": "NOD2B",
                    "type": "synonym"
                },
                {
                    "name": "NOD2",
                    "type": "synonym"
                },
                {
                    "name": "PSORAS1",
                    "type": "synonym"
                },
                {
                    "name": "YAOS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC29-1",
            "evidence": [
                {
                    "id": "0081451",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081451"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081451"
}
