{
  "id": 12949,
  "label": "annular epidermolytic ichthyosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011870",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 24039,
      "label": "ichthyosis, annular epidermolytic 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12949,
        25858
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015417",
          "OMIM:607602"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Any annular epidermolytic ichthiosis in which the cause of the disease is a variation in the KRT10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100303"
    },
    {
      "id": 25542,
      "label": "ichthyosis, annular epidermolytic, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12949
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026747",
          "MEDGEN:1824037",
          "OMIM:620148",
          "UMLS:C5774264"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859574"
    }
  ],
  "roots": [
    {
      "id": 20109,
      "label": "autosomal dominant epidermolytic ichthyosis"
    }
  ]
}