{
  "id": 14304,
  "label": "frontonasal dysplasia with alopecia and genital anomaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013268",
  "properties": {
    "xrefs": [
      "DOID:0081046",
      "GARD:0012641",
      "MEDGEN:462053",
      "OMIM:613451",
      "Orphanet:228390",
      "SCTID:725029001",
      "UMLS:C3150703"
    ],
    "synonyms": [
      "ALX4-related FNDAG",
      "craniofrontonasal dysplasia with alopecia and hypogonadism",
      "frontonasal dysplasia type 2",
      "frontonasal dysplasia with alopecia and genital abnomality",
      "FND2",
      "frontonasal dysplasia 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Frontonasal dysplasia with alopecia and genital anomaly is a new phenotype of frontonasal dysplasia associated with total alopecia and hypogonadism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4198,
      "label": "integumentary system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:16",
          "EFO:0010285",
          "MEDGEN:712400",
          "SCTID:128598002",
          "UMLS:C1290011"
        ],
        "synonyms": [
          "disease of integumental system",
          "disease or disorder of integumental system",
          "disorder of integumental system",
          "integumental system disease",
          "integumental system disease or disorder",
          "integumentary disease",
          "disorder of integument"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A disease involving the integumental system."
      },
      "child_count": 36,
      "reference_id": "MONDO:0002051"
    },
    {
      "id": 17114,
      "label": "frontonasal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081044",
          "GARD:0002392",
          "MEDGEN:406292",
          "MESH:C538065",
          "NORD:1165",
          "OMIMPS:136760",
          "Orphanet:250",
          "SCTID:86610004",
          "UMLS:C1876203",
          "icd11.foundation:782645776"
        ],
        "synonyms": [
          "median cleft face syndrome",
          "FND1",
          "frontonasal dysplasia 1",
          "median cleft syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare bone development disorders characterized by an array of abnormalities affecting the eyes, forehead, and nose, and linked to midfacial dysraphia. The clinical picture is highly variable, but the major findings include hypertelorism, a broad nasal root, a large and bifid nasal tip, and widow's peak. Occasionally, abnormalities can include accessory nasal tags, cleft lip, ocular abnormalities (coloboma, cataract, microphthalmia), conductive hearing loss, basal encephalocele and/or agenesis of the corpus callosum. Intellectual deficit is rare and more likely to occur in cases where hypertelorism is severe or where there is extra-cranial involvement."
      },
      "child_count": 18,
      "reference_id": "MONDO:0016643"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4198,
      "label": "integumentary system disorder"
    },
    {
      "id": 17114,
      "label": "frontonasal dysplasia"
    }
  ]
}