{
  "id": 23417,
  "label": "autosomal recessive epidermolytic ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0044742",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 8644,
      "label": "epidermolytic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17595,
        23507
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007239"
    }
  ],
  "children": [
    {
      "id": 24640,
      "label": "epidermolytic hyperkeratosis 2B, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23417,
        25858
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061208",
          "GARD:0026394",
          "MEDGEN:1845041",
          "OMIM:620707",
          "UMLS:C5882753"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700245"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 8644,
      "label": "epidermolytic ichthyosis"
    }
  ]
}