{
  "id": 11279,
  "label": "Filippi syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010092",
  "properties": {
    "xrefs": [
      "DOID:0112194",
      "GARD:0000062",
      "MEDGEN:163197",
      "MESH:C538152",
      "NORD:1149",
      "OMIM:272440",
      "Orphanet:3255",
      "SCTID:720954000",
      "UMLS:C0795940",
      "icd11.foundation:1989471300"
    ],
    "synonyms": [
      "Filippi syndrome",
      "type 1 syndactyly-microcephaly-intellectual disability syndrome",
      "FILIPPI syndrome",
      "FLPIS",
      "Scott craniodigital syndrome with intellectual disability",
      "Scott craniodigital syndrome with mental retardation",
      "syndactyly type I with microcephaly and intellectual disability",
      "syndactyly type I with microcephaly and mental retardation",
      "syndactyly, type I, with microcephaly and intellectual disability",
      "syndactyly, type I, with microcephaly and mental retardation",
      "unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly",
      "unusual facial appearance, microcephaly, growth and mental retardation and syndactyly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360,
        20258,
        20259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026428"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any skeletal dysplasia that is characterizedby polydactyly, syndactyly and triphalangism, where a digit has three phalanges instead of two."
      },
      "child_count": 84,
      "reference_id": "MONDO:0800066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    }
  ]
}