{
  "id": 14651,
  "label": "psoriasis 14, pustular",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013626",
  "properties": {
    "xrefs": [
      "DOID:0080474",
      "GARD:0017679",
      "ICD9:696.1",
      "MEDGEN:581114",
      "NANDO:1200244",
      "NANDO:2200452",
      "NCIT:C119057",
      "OMIM:614204",
      "Orphanet:163931",
      "Orphanet:404546",
      "SCTID:83839005",
      "UMLS:C0392439"
    ],
    "synonyms": [
      "palmoplantar pustulosis",
      "DITRA",
      "IL36RN psoriasis",
      "Interleukin 36 receptor antagonist deficiency",
      "PSORP",
      "PSORS14",
      "acrodermatitis continua of Hallopeau",
      "acrodermatitis continua suppurativa of Hallopeau",
      "deficiency of IL-36R antagonist",
      "deficiency of IL-36Ra",
      "deficiency of the interleukin-36 receptor antagonist",
      "familial generalised pustular psoriasis",
      "psoriasis 14, pustular",
      "psoriasis caused by mutation in IL36RN",
      "GPP",
      "generalised pustular psoriasis",
      "generalized pustular psoriasis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      },
      {
        "ref": "MONDO:0005046",
        "name": "immune system disorder"
      }
    ],
    "definition": "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24217,
      "label": "generalized pustular psoriasis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20830
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026245",
          "ICD10CM:L40.1",
          "MEDGEN:473074",
          "Orphanet:247353",
          "SCTID:238612002",
          "UMLS:C0343055"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A rare and extreme form of psoriasis characterized by the appearance of sterile pustules which can take many patterns. All the main pathological features of the disease are accentuated. Generalized pustular psoriasis is clinically heterogeneous in its age at onset, precipitants, severity, and natural history. Many overlapping clinical entities are recognized. There is a relationship between these entities and plaque psoriasis, as some individuals may have episodes of plaque psoriasis preceding or following the generalized pustular psoriasis, but in others generalized pustular psoriasis occurs as the sole phenotype without plaque psoriasis at any time."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100491"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19129,
      "label": "epidermal disease"
    },
    {
      "id": 19503,
      "label": "autoinflammatory syndrome"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    },
    {
      "id": 24217,
      "label": "generalized pustular psoriasis"
    }
  ]
}