{
  "id": 17114,
  "label": "frontonasal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016643",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    }
  ],
  "children": [
    {
      "id": 9000,
      "label": "frontorhiny",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081045",
          "GARD:0012642",
          "MEDGEN:1803615",
          "NCIT:C129028",
          "OMIM:136760",
          "Orphanet:391474",
          "UMLS:C5574965"
        ],
        "synonyms": [
          "ALX3-related frontonasal dysplasia",
          "frontonasal dysplasia type 1",
          "frontorhiny",
          "isolated median cleft face syndrome",
          "FND1",
          "frontonasal dysplasia",
          "frontonasal dysplasia 1",
          "frontonasal malformation",
          "isolated median cleft syndrome",
          "median Facial cleft syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Frontorhiny is a distinct syndromic type of frontonasal malformation characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline. Additional features reported in some include upper eyelid ptosis and midline dermoid cysts of craniofacial structures and philtral pits or rugose folding behind the ears. An autosomal recessive inheritance has been proposed."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007636"
    },
    {
      "id": 9285,
      "label": "Pai syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003439",
          "MEDGEN:371972",
          "MESH:C536135",
          "OMIM:155145",
          "Orphanet:1993",
          "SCTID:722201004",
          "UMLS:C1835087",
          "icd11.foundation:1236130516"
        ],
        "synonyms": [
          "Pai syndrome",
          "median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome",
          "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa",
          "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa",
          "median cleft of upper lip with polyps of facial skin and nasal mucosa"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007956"
    },
    {
      "id": 10489,
      "label": "frontofacionasal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002390",
          "MEDGEN:444125",
          "MESH:C538063",
          "NORD:1164",
          "OMIM:229400",
          "Orphanet:1791",
          "SCTID:716022002",
          "UMLS:C2931720"
        ],
        "synonyms": [
          "Gollop syndrome",
          "frontofacionasal dysplasia",
          "Ffnd",
          "Frontofacionasal dysostosis",
          "fronto-facio-nasal dyplasia",
          "fronto-facio-nasal dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Fronto-facio-nasal dysostosis is characterized by multiple craniofacial anomalies (brachycephaly, blepharophimosis, ptosis, S-shaped palpebral fissures, coloboma, cleft lip and palate, deformed nostrils, encephalocele, hypertelorism, midface hypoplasia, malformed eyes, and absent inner eyelashes)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009247"
    },
    {
      "id": 12208,
      "label": "oculoauriculofrontonasal syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004031",
          "MEDGEN:316969",
          "MESH:C537865",
          "OMIM:601452",
          "Orphanet:398156",
          "UMLS:C1832352"
        ],
        "synonyms": [
          "OAFNS",
          "oculoauriculofrontonasal syndrome",
          "OCULOAURICULOFRONTONASAL syndrome",
          "oculoauriculofrontonasal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011082"
    },
    {
      "id": 12469,
      "label": "acromelic frontonasal dysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17114,
        18363
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011359"
    },
    {
      "id": 14304,
      "label": "frontonasal dysplasia with alopecia and genital anomaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4198,
        17114
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013268"
    },
    {
      "id": 14306,
      "label": "frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081047",
          "GARD:0012640",
          "MEDGEN:462056",
          "OMIM:613456",
          "Orphanet:306542",
          "UMLS:C3150706"
        ],
        "synonyms": [
          "ALX1-related frontonasal dysplasia",
          "frontonasal dysplasia type 3",
          "FND3",
          "frontonasal dysplasia 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013271"
    },
    {
      "id": 16305,
      "label": "craniofrontonasal dysplasia-Poland anomaly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16594,
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000428",
          "MEDGEN:929528",
          "Orphanet:1521",
          "SCTID:720757001",
          "UMLS:C4303859"
        ],
        "synonyms": [
          "Webster-Deming syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002657",
            "name": "breast disorder"
          }
        ],
        "definition": "Cranio-fronto-nasal dysplasia - Poland anomaly is a polymalformative syndrome characterized by craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia, and genital and breast anomalies. Less than ten cases have been described so far."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015464"
    },
    {
      "id": 23362,
      "label": "six2-related frontonasal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17114
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022001",
          "MEDGEN:1798907",
          "Orphanet:488437",
          "UMLS:C5567484"
        ],
        "synonyms": [
          "SIX2-related FND"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044628"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    }
  ]
}