{
  "id": 10446,
  "label": "focal facial dermal dysplasia type III",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009203",
  "properties": {
    "xrefs": [
      "GARD:0000121",
      "MEDGEN:315643",
      "OMIM:227260",
      "Orphanet:1807",
      "SCTID:403771007",
      "UMLS:C1744559"
    ],
    "synonyms": [
      "FFDD type III",
      "FFDD3",
      "Setleis syndrome",
      "focal facial dermal dysplasia 3, Setleis type",
      "focal facial dermal dysplasia type III",
      "FFDD type 2",
      "bitemporal forceps Marks syndrome",
      "bitemporal forceps marks syndrome",
      "facial ectodermal dysplasia",
      "focal Facial dermal dysplasia, type II",
      "focal Facial dermal dysplasia, type II, formerly",
      "focal facial dermal dysplasia type 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Focal facial dermal dysplasia type III (FFDD3) is a rare focal facial facial dysplasia (FFDD), characterized primarily by congenital bitemporal scar-like depressions and a typical, but variable facial dysmorphism, which may include distichiasis (upper lids) or lacking eyelashes, slanted eyebrows and a flattened and/or bulbous nasal tip and other features such as a low frontal hairline, sparse hair, redundant skin, epicanthal folds, low-set dysplastic ears, blepharitis and conjunctivitis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": [
    {
      "id": 15006,
      "label": "focal facial dermal dysplasia type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10446
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017649",
          "MEDGEN:767159",
          "NORD:1704",
          "OMIM:614973",
          "Orphanet:398173",
          "UMLS:C3554245"
        ],
        "synonyms": [
          "FFDD type II",
          "FFDD2",
          "Setleis Syndrome",
          "focal facial dermal dysplasia 2, Brauer-Setleis type",
          "Brauer-Setleis syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Focal facial dermal dysplasia type II (FFDD2) is a focal facial dermal dysplasia (FFDD), characterized by congenital bitemporal scar-like depressions and other facial and organ abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013996"
    }
  ],
  "roots": [
    {
      "id": 18446,
      "label": "focal facial dermal dysplasia"
    }
  ]
}