{
  "id": 15007,
  "label": "focal facial dermal dysplasia type IV",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013997",
  "properties": {
    "xrefs": [
      "GARD:0017650",
      "MEDGEN:767160",
      "OMIM:614974",
      "Orphanet:398189",
      "UMLS:C3554246"
    ],
    "synonyms": [
      "FFDD type IV",
      "FFDD4",
      "focal Facial dermal dysplasia type 4",
      "focal facial dermal dysplasia 4",
      "focal facial preauricular dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Focal facial dermal dysplasia type IV (FFDD4) is a rare focal facial dysplasia (FFDD), characterized by congenital isolated preauricular and/or cheek blister scar-like lesions."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18446,
      "label": "focal facial dermal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008416",
          "MEDGEN:445408",
          "MESH:C537068",
          "OMIMPS:136500",
          "Orphanet:398166",
          "UMLS:C2936827",
          "icd11.foundation:1200544726"
        ],
        "synonyms": [
          "FFDD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Focal facial dermal dysplasias (FFDD) are rare ectodermal dysplasias, characterized by congenital bitemporal (resembling forceps marks) or preauricular scar-like lesions associated with additional facial and or systematic manifestations. 4 types of FFDD are described (FFDD I to IV). FFDD types II and III present with a variable facial dysmorphism including distichiasis (upper lashes) or lacking eyelashes, and upward slanting and thinned lateral eyebrows with a flattened nasal bridge and full upper lip. FFDD types I and IV are infrequently associated with extra-cutaneous anomalies."
      },
      "child_count": 3,
      "reference_id": "MONDO:0018363"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18446,
      "label": "focal facial dermal dysplasia"
    }
  ]
}