{
  "id": 12469,
  "label": "acromelic frontonasal dysostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011359",
  "properties": {
    "xrefs": [
      "DOID:0060342",
      "GARD:0005539",
      "MEDGEN:350933",
      "MESH:C566345",
      "OMIM:603671",
      "Orphanet:1827",
      "SCTID:715427008",
      "UMLS:C1863616"
    ],
    "synonyms": [
      "AFND",
      "Toriello syndrome",
      "acromelic frontonasal dysostosis",
      "acromelic frontonasal dysplasia",
      "frontonasal dysplasia acromelic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Acromelic frontonasal dysplasia (AFND) is a rare variant of frontonasal dysplasia characterized by distinct craniofacial (large fontanelle, hypertelorism, bifid nasal tip, nasal clefting, brachycephaly, median cleft face, carp-shaped mouth), brain (interhemispheric lipoma, agenesis of the corpus callosum), and limb (tibial hypoplasia/aplasia, club foot, symmetric preaxial polydactyly of the feet and bilateral clubbed and thickened nails of halluces) malformations as well as intellectual disability. Other manifestations sometimes reported include absent olfactory bulbs, hypopituitarism and cryptorchidism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 18363,
      "label": "acrofacial dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060379",
          "GARD:0021574",
          "MEDGEN:272278",
          "NCIT:C35795",
          "Orphanet:364574",
          "UMLS:C1332140",
          "icd11.foundation:1702160042"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 42,
      "reference_id": "MONDO:0018237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17114,
      "label": "frontonasal dysplasia"
    },
    {
      "id": 18363,
      "label": "acrofacial dysostosis"
    }
  ]
}