{
  "id": 10441,
  "label": "congenital lethal erythroderma",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009198",
  "properties": {
    "xrefs": [
      "GARD:0002192",
      "MEDGEN:384008",
      "MESH:C535513",
      "OMIM:227090",
      "Orphanet:1954",
      "SCTID:722391005",
      "UMLS:C1856898"
    ],
    "synonyms": [
      "congenital exfoliative erythroderma resistant to treatment",
      "erythroderma lethal congenital",
      "erythroderma, lethal congenital",
      "lethal congenital erythroderma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6820,
      "label": "skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:37",
          "EFO:0000701",
          "ICD9:702",
          "ICD9:702.8",
          "ICD9:709.8",
          "MEDGEN:20777",
          "MESH:D012871",
          "NANDO:2100281",
          "NCIT:C3371",
          "SCTID:95320005",
          "UMLS:C0037274"
        ],
        "synonyms": [
          "cutaneous disorder",
          "disease of zone of skin",
          "disease or disorder of zone of skin",
          "disorder of skin",
          "disorder of zone of skin",
          "skin diseases and manifestations",
          "skin disorder",
          "zone of skin disease",
          "zone of skin disease or disorder",
          "dermatosis",
          "genodermatosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any deviation from the normal structure or function of the skin or subcutaneous tissue that is manifested by a characteristic set of symptoms and signs."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005093"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6820,
      "label": "skin disorder"
    }
  ]
}