{
  "id": 18150,
  "label": "hereditary periodic fever syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017953",
  "properties": {
    "xrefs": [
      "GARD:0021453",
      "MEDGEN:199651",
      "MESH:D056660",
      "Orphanet:324924",
      "UMLS:C0751422"
    ],
    "synonyms": [
      "hereditary periodic fever syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "An instance of periodic fever syndrome that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 16077,
      "label": "periodic fever syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19503
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019812",
          "MEDGEN:855463",
          "MedDRA:10034533",
          "NCIT:C118240",
          "Orphanet:101995",
          "UMLS:C3889979"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Fevers of unknown etiology recurring over months or years."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015137"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "children": [
    {
      "id": 9080,
      "label": "TNF receptor 1-associated periodic fever syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        18150
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090018",
          "GARD:0008457",
          "MEDGEN:226899",
          "MESH:C536657",
          "NANDO:1200472",
          "NANDO:2200433",
          "NCIT:C119051",
          "NORD:1804",
          "OMIM:142680",
          "Orphanet:32960",
          "SCTID:403833009",
          "UMLS:C1275126",
          "icd11.foundation:1869883509"
        ],
        "synonyms": [
          "autosomal dominant familial periodic fever",
          "FHF",
          "Hibernian fever, familial",
          "TNF receptor 1-associated periodic fever syndrome",
          "TNF receptor 1-associated periodic syndrome",
          "TNF receptor-associated periodic syndrome",
          "TRAPS",
          "TRAPS syndrome",
          "Tumor Necrosis Factor Receptor-Associated Periodic Syndrome",
          "familial Hibernian fever",
          "tumor necrosis factor receptor 1 associated periodic syndrome",
          "tumor necrosis factor receptor 1-associated periodic syndrome",
          "tumor necrosis factor receptor-associated periodic syndrome",
          "tumour necrosis factor receptor 1 associated periodic syndrome",
          "tumour necrosis factor receptor 1-associated periodic syndrome",
          "tumour necrosis factor receptor-associated periodic syndrome",
          "FPF",
          "periodic FEVER, familial, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007727"
    },
    {
      "id": 15471,
      "label": "periodic fever-infantile enterocolitis-autoinflammatory syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18150
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017725",
          "MEDGEN:863504",
          "NANDO:1200994",
          "NANDO:2200459",
          "NORD:1939",
          "OMIM:616050",
          "Orphanet:436166",
          "UMLS:C4015067"
        ],
        "synonyms": [
          "Autoinflammation with Infantile Enterocolitis",
          "NLRC4-related MAS",
          "NLRC4-related autoinflammatory syndrome with MAS",
          "NLRC4-related autoinflammatory syndrome with macrophage activation syndrome",
          "NLRC4-related infantile enterocolitis-autoinflammatory syndrome",
          "NLRC4-related macrophage activation syndrome",
          "autoinflammation with infantile enterocolitis",
          "AIFEC",
          "AUTOINFLAMMATION with infantile enterocolitis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014472"
    },
    {
      "id": 15892,
      "label": "autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18150,
        26176
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080163",
          "GARD:0013198",
          "MEDGEN:934581",
          "OMIM:617099",
          "Orphanet:500062",
          "SCTID:765435009",
          "UMLS:C4310614"
        ],
        "synonyms": [
          "AIPDS",
          "Autoinflammation, panniculitis, and dermatosis syndrome",
          "ORAS",
          "autoinflammation, panniculitis and dermatosis syndrome",
          "otulin deficiency",
          "otulin-related autoinflammatory syndrome",
          "otulipenia",
          "AUTOINFLAMMATION, panniculitis, and dermatosis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014912"
    },
    {
      "id": 16767,
      "label": "cryopyrin-associated periodic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        18150
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010927",
          "ICD9:759.89",
          "MEDGEN:412215",
          "MESH:D056587",
          "MedDRA:10068850",
          "NANDO:1200465",
          "NANDO:2200432",
          "NCIT:C84657",
          "Orphanet:208650",
          "SCTID:430079001",
          "UMLS:C2316212",
          "icd11.foundation:2139918612"
        ],
        "synonyms": [
          "caps",
          "Cryopyrinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Cryopyrin associated periodic syndrome (CAPS) defines a group of autoinflammatory diseases, characterized by recurrent episodes of systemic inflammatory attacks in the absence of infection or autoimmune disease. CAPS comprises 3 disorders on a continuum of severity: severe CINCA syndrome, intermediate Muckle-Wells syndrome (MWS) and milder familial cold urticaria (FCAS)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0016168"
    },
    {
      "id": 17945,
      "label": "mevalonate kinase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16607,
        18150,
        19104
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021315",
          "MEDGEN:87453",
          "MESH:D054078",
          "MedDRA:10072221",
          "NANDO:2200436",
          "NORD:1260",
          "Orphanet:309025",
          "UMLS:C0342731",
          "icd11.foundation:772056052"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0017708"
    },
    {
      "id": 18248,
      "label": "familial Mediterranean fever",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6778,
        18150
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2987",
          "GARD:0006421",
          "ICD9:277.31",
          "MEDGEN:45811",
          "MESH:D010505",
          "MedDRA:10016207",
          "NANDO:1200863",
          "NANDO:2200431",
          "NCIT:C84707",
          "NORD:1130",
          "Orphanet:342",
          "SCTID:12579009",
          "UMLS:C0031069",
          "icd11.foundation:1373335705"
        ],
        "synonyms": [
          "FMF",
          "Fiebre mediterránea familiar",
          "benign paroxysmal peritonitis",
          "benign recurrent polyserositis",
          "familial paroxysmal polyserositis",
          "periodic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018088"
    }
  ],
  "roots": [
    {
      "id": 16077,
      "label": "periodic fever syndrome"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}