{
  "id": 15480,
  "label": "inflammatory skin and bowel disease, neonatal, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014481",
  "properties": {
    "xrefs": [
      "DOID:0061191",
      "GARD:0018430",
      "MEDGEN:863567",
      "OMIM:616069",
      "UMLS:C4015130"
    ],
    "synonyms": [
      "EGFR neonatal inflammatory skin and bowel disease",
      "inflammatory skin and bowel disease, neonatal, 2",
      "inflammatory skin and bowel disease, neonatal, type 2",
      "neonatal inflammatory skin and bowel disease caused by mutation in EGFR",
      "NISBD2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17718,
      "label": "neonatal inflammatory skin and bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6965,
        19129,
        19503,
        21247,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017355",
          "MEDGEN:1648296",
          "OMIMPS:614328",
          "Orphanet:294023",
          "UMLS:C4751120"
        ],
        "synonyms": [
          "inflammatory skin and bowel disease, neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Neonatal inflammatory skin and bowel disease is a rare, life-threatening, autoinflammatory syndrome with immune deficiency disorder characterized by early-onset, life-long inflammation, affecting the skin and bowel, associated with recurrent infections. Patients present perioral and perianal psoriasiform erythema and papular eruption with pustules, failure to thrive associated with chronic malabsorptive diarrhea, intercurrent gastrointestinal infections and feeding troubles, as well as absent, short or broken hair and trichomegaly. Recurrent cutaneous and pulmonary infections lead to recurrent blepharitis, otitis externa and bronchiolitis."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017411"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17718,
      "label": "neonatal inflammatory skin and bowel disease"
    }
  ]
}