{
  "id": 17718,
  "label": "neonatal inflammatory skin and bowel disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017411",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 6965,
      "label": "inflammatory bowel disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6756,
        6778
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050589",
          "EFO:0003767",
          "ICD9:558.9",
          "MEDGEN:43877",
          "MESH:D015212",
          "NANDO:2100259",
          "NCIT:C3138",
          "OMIMPS:266600",
          "SCTID:24526004",
          "UMLS:C0021390"
        ],
        "synonyms": [
          "IBD",
          "autoimmune bowel disorder",
          "inflammatory bowel disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type."
      },
      "child_count": 120,
      "reference_id": "MONDO:0005265"
    },
    {
      "id": 19129,
      "label": "epidermal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842776",
          "Orphanet:79353",
          "UMLS:C5681492"
        ],
        "synonyms": [
          "epidermal disease",
          "rare epidermal disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A skin disease that involves the epidermis."
      },
      "child_count": 25,
      "reference_id": "MONDO:0019268"
    },
    {
      "id": 19503,
      "label": "autoinflammatory syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7203
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051000",
          "ICD10CM:M04-M04",
          "MEDGEN:855741",
          "MedDRA:10072220",
          "NANDO:2100156",
          "NCIT:C119050",
          "Orphanet:93665",
          "UMLS:C3890737"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A group of disorders of the innate immune system characterized by attacks of seemingly unprovoked inflammation without significant levels of either autoantibodies or autoreactive T cells more characteristic of autoimmune disease."
      },
      "child_count": 74,
      "reference_id": "MONDO:0019751"
    },
    {
      "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"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 14715,
      "label": "inflammatory skin and bowel disease, neonatal, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17718
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061192",
          "GARD:0018429",
          "MEDGEN:482131",
          "OMIM:614328",
          "UMLS:C3280501"
        ],
        "synonyms": [
          "ADAM17 neonatal inflammatory skin and bowel disease",
          "inflammatory skin and bowel disease, neonatal, 1",
          "inflammatory skin and bowel disease, neonatal, type 1",
          "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17",
          "NISBD1"
        ],
        "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 ADAM17 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013693"
    },
    {
      "id": 15480,
      "label": "inflammatory skin and bowel disease, neonatal, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17718
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014481"
    }
  ],
  "roots": [
    {
      "id": 6965,
      "label": "inflammatory bowel disease"
    },
    {
      "id": 19129,
      "label": "epidermal disease"
    },
    {
      "id": 19503,
      "label": "autoinflammatory syndrome"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}