{
  "id": 11814,
  "label": "syndactyly type 8",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010669",
  "properties": {
    "xrefs": [
      "DOID:0111813",
      "GARD:0003559",
      "MEDGEN:333392",
      "MESH:C564100",
      "OMIM:309630",
      "Orphanet:2498",
      "SCTID:715442006",
      "UMLS:C1839728",
      "icd11.foundation:577712860"
    ],
    "synonyms": [
      "FGF16 non-syndromic syndactyly",
      "fusion of metacarpals 4 and 5",
      "metacarpal 4-5 fusion, X-linked recessive",
      "non-syndromic syndactyly caused by mutation in FGF16",
      "MF4",
      "metacarpal 4-5 fusion",
      "metacarpals 4 and 5 fusion"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19340,
      "label": "non-syndromic syndactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20258
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1842957",
          "MedDRA:10042778",
          "NCIT:C87125",
          "Orphanet:90025",
          "UMLS:C5681365",
          "icd11.foundation:1736296640"
        ],
        "synonyms": [
          "nonsyndromic syndactyly",
          "chromosome 2q35 duplication syndrome",
          "isolated syndactyly",
          "symphalangism",
          "symphalangy",
          "syndactyly",
          "webbing of digits"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly."
      },
      "child_count": 8,
      "reference_id": "MONDO:0019530"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19340,
      "label": "non-syndromic syndactyly"
    }
  ]
}