{
  "id": 15253,
  "label": "familial episodic pain syndrome with predominantly lower limb involvement",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014247",
  "properties": {
    "xrefs": [
      "DOID:0111731",
      "GARD:0017619",
      "MEDGEN:816229",
      "NCIT:C125390",
      "OMIM:615552",
      "Orphanet:391392",
      "UMLS:C3809899"
    ],
    "synonyms": [
      "episodic pain syndrome, familial, type 3",
      "FEPS3",
      "episodic pain syndrome, familial, 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare, autosomal dominant disorder caused by mutation in the SCN11A gene. It is characterized by intense episodic pain mainly affecting the distal lower extremities in early childhood. The pain diminishes with age."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 18414,
      "label": "familial episodic pain syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19748,
        20717
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111728",
          "GARD:0012684",
          "MEDGEN:1682682",
          "OMIMPS:615040",
          "Orphanet:391384",
          "UMLS:C5190598"
        ],
        "synonyms": [
          "FEPS"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018319"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 18414,
      "label": "familial episodic pain syndrome"
    }
  ]
}