{
  "id": 20109,
  "label": "autosomal dominant epidermolytic ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020702",
  "properties": {
    "xrefs": [
      "GARD:0001039",
      "NANDO:1200611",
      "NANDO:2200988",
      "NCIT:C62569",
      "Orphanet:312"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 12949,
      "label": "annular epidermolytic ichthyosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20109
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017304",
          "MEDGEN:334410",
          "MESH:C564367",
          "OMIMPS:607602",
          "Orphanet:281139",
          "SCTID:718631006",
          "UMLS:C1843463",
          "icd11.foundation:280058464"
        ],
        "synonyms": [
          "AEI",
          "ichthyosis, annular epidermolytic",
          "Ciehk",
          "epidermolytic ichthyosis, annular",
          "ichthyosis, cyclic, with epidermolytic hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Annular epidermolytic ichthyosis (AEI) is a rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities."
      },
      "child_count": 2,
      "reference_id": "MONDO:0011870"
    },
    {
      "id": 24643,
      "label": "epidermolytic hyperkeratosis 2A, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20109,
        25858
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061223",
          "GARD:0026396",
          "MEDGEN:1846123",
          "OMIM:620150",
          "UMLS:C5882671"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0700248"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 8644,
      "label": "epidermolytic ichthyosis"
    }
  ]
}