{
  "id": 8644,
  "label": "epidermolytic ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007239",
  "properties": {
    "xrefs": [
      "DOID:4603",
      "GARD:0024537",
      "MEDGEN:38179",
      "MESH:D017488",
      "NORD:1100",
      "OMIMPS:113800",
      "SCTID:254167000",
      "UMLS:C0079153",
      "icd11.foundation:1183730789"
    ],
    "synonyms": [
      "BCIE",
      "EHK",
      "EI",
      "bullous congenital ichthyosiform erythroderma",
      "bullous congenital ichthyosiform erythroderma of Brock",
      "bullous ichthyosis",
      "epidermolytic hyperkeratosis",
      "epidermolytic ichthyosis",
      "ichthyosis hystrix Brocq type",
      "autosomal dominant epidermolytic ichthyosis",
      "bullous erythroderma Ichthyosiformis congenita of Brocq",
      "bullous ichthyosiform erythroderma",
      "bullous ichthyosiform erythroderma congenita",
      "congenital bullous ichthyosiform erythroderma"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "A rare keratinopathic ichthyosis (KPI), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 17595,
      "label": "keratinopathic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021107",
          "MEDGEN:1393111",
          "NANDO:1200610",
          "NANDO:2200987",
          "Orphanet:281103",
          "SCTID:724837004",
          "UMLS:C4511307",
          "icd11.foundation:992865924"
        ],
        "synonyms": [
          "KPI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017266"
    },
    {
      "id": 23507,
      "label": "keratinization disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4198,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:635020",
          "SCTID:277905003",
          "UMLS:C0475811"
        ],
        "synonyms": [
          "disorder of keratinization",
          "keratinization disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0045011"
    }
  ],
  "children": [
    {
      "id": 20109,
      "label": "autosomal dominant epidermolytic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        8644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001039",
          "NANDO:1200611",
          "NANDO:2200988",
          "NCIT:C62569",
          "Orphanet:312"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020702"
    },
    {
      "id": 23417,
      "label": "autosomal recessive epidermolytic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        8644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022074",
          "MEDGEN:1725198",
          "NANDO:1200612",
          "NANDO:2200989",
          "Orphanet:512103",
          "UMLS:C5437635",
          "icd11.foundation:244597687"
        ],
        "synonyms": [
          "AREI"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0044742"
    },
    {
      "id": 24644,
      "label": "epidermolytic hyperkeratosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081358",
          "GARD:0026397",
          "MEDGEN:1826137",
          "OMIM:113800",
          "UMLS:C5781874"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700249"
    },
    {
      "id": 25858,
      "label": "epidermolytic hyperkeratosis 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        8644
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081359",
          "GARD:0026961"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0958184"
    }
  ],
  "roots": [
    {
      "id": 17595,
      "label": "keratinopathic ichthyosis"
    },
    {
      "id": 23507,
      "label": "keratinization disease"
    }
  ]
}