{
  "id": 8992,
  "label": "focal facial dermal dysplasia type I",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007627",
  "properties": {
    "xrefs": [
      "GARD:0016524",
      "MEDGEN:1718224",
      "OMIM:136500",
      "Orphanet:79133",
      "UMLS:C5235196"
    ],
    "synonyms": [
      "Brauer syndrome",
      "FFDD type I",
      "FFDD1",
      "bitemporal aplasia cutis congenita",
      "focal facial dermal dysplasia 1, Brauer type",
      "focal facial dermal dysplasia type 1",
      "FFDD, type 1",
      "hereditary symmetrical aplastic nevi of temples"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Focal facial dermal dysplasia type I (FFDD1), also known as Brauer syndrome, is a focal facial dysplasia (FFDD) characterized by congenital bitemporal cutis aplasia."
  },
  "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"
    }
  ]
}