{
  "id": 18446,
  "label": "focal facial dermal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018363",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        20277,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2121",
          "GARD:0006317",
          "ICD9:757.31",
          "MEDGEN:8544",
          "MESH:D004476",
          "MedDRA:10010452",
          "NCIT:C84683",
          "OMIMPS:305100",
          "Orphanet:79373",
          "SCTID:8654005",
          "UMLS:C0013575",
          "icd11.foundation:1156567558"
        ],
        "synonyms": [
          "ectodermal dysplasia",
          "ectodermal dysplasia (select examples)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The term ''ectodermal dysplasia'' defines a heterogeneous group of heritable disorders of the skin and its appendages characterized by the defective development of two or more ectodermal derivatives, including hair, teeth, nails, sweat glands and their modified structures (i.e. ceruminous, mammary and ciliary glands). The spectrum of clinical manifestations is wide and may include additional manifestations from other ectodermal, mesodermal and endodermal structures."
      },
      "child_count": 360,
      "reference_id": "MONDO:0019287"
    }
  ],
  "children": [
    {
      "id": 8992,
      "label": "focal facial dermal dysplasia type I",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18446
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007627"
    },
    {
      "id": 10446,
      "label": "focal facial dermal dysplasia type III",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18446
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 1,
      "reference_id": "MONDO:0009203"
    },
    {
      "id": 15007,
      "label": "focal facial dermal dysplasia type IV",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18446
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013997"
    }
  ],
  "roots": [
    {
      "id": 19138,
      "label": "ectodermal dysplasia syndrome"
    }
  ]
}