{
  "id": 9803,
  "label": "syndactyly type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008512",
  "properties": {
    "xrefs": [
      "DOID:0111816",
      "GARD:0005081",
      "MEDGEN:348343",
      "OMIM:185900",
      "Orphanet:93402",
      "SCTID:715723008",
      "UMLS:C1861380",
      "icd11.foundation:1841508645"
    ],
    "synonyms": [
      "SDTY1",
      "Sd1",
      "Zygodactyly",
      "chromosome 2q35 DUPLICATION syndrome",
      "craniosynostosis, Philadelphia type",
      "syndactyly, type 1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 17368,
      "label": "partial duplication of the long arm of chromosome 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:162771",
          "MESH:C535367",
          "Orphanet:262842",
          "UMLS:C0795805",
          "icd11.foundation:472179859"
        ],
        "synonyms": [
          "partial duplication of chromosome 2q",
          "partial duplication of the long arm of chromosome type 2",
          "partial trisomy of chromosome 2q",
          "partial trisomy of the long arm of chromosome 2",
          "2q duplication",
          "2q trisomy",
          "Duplication 2q",
          "chromosome 2q duplication",
          "partial trisomy 2q",
          "trisomy 2q"
        ],
        "definition": "Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016953"
    },
    {
      "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"
    },
    {
      "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": [
    {
      "id": 13405,
      "label": "zygodactyly type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111820",
          "GARD:0017357",
          "MEDGEN:377870",
          "MESH:C565223",
          "OMIM:609815",
          "Orphanet:295187",
          "UMLS:C1853294",
          "icd11.foundation:1671375617"
        ],
        "synonyms": [
          "SD1, Weidenreich type",
          "SD1a",
          "Zygodactyly, Weidenreich type",
          "syndactyly type 1, Weidenreich type",
          "syndactyly type 1a",
          "zygodactyly type 1",
          "ZYGODACTYLY 1",
          "Zd1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012351"
    },
    {
      "id": 17824,
      "label": "zygodactyly type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021214",
          "MEDGEN:1842290",
          "Orphanet:295189",
          "UMLS:C5679982",
          "icd11.foundation:1092417894"
        ],
        "synonyms": [
          "SD1, Lueken type",
          "SD1b",
          "Zygodactyly, Lueken type",
          "syndactyly type 1, Lueken type",
          "syndactyly type 1b"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017543"
    },
    {
      "id": 17825,
      "label": "zygodactyly type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021215",
          "MEDGEN:1843229",
          "Orphanet:295191",
          "UMLS:C5679983",
          "icd11.foundation:1831534806"
        ],
        "synonyms": [
          "SD1, Montagu type",
          "SD1c",
          "Zygodactyly, Montagu type",
          "syndactyly type 1, Montagu type",
          "syndactyly type 1c"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017544"
    },
    {
      "id": 17826,
      "label": "zygodactyly type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9803
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021216",
          "MEDGEN:1843119",
          "Orphanet:295193",
          "UMLS:C5679981",
          "icd11.foundation:1391914407"
        ],
        "synonyms": [
          "SD1, Castilla type",
          "SD1d",
          "Zygodactyly, Castilla type",
          "syndactyly type 1, Castilla type",
          "syndactyly type 1d"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017545"
    }
  ],
  "roots": [
    {
      "id": 17368,
      "label": "partial duplication of the long arm of chromosome 2"
    },
    {
      "id": 19340,
      "label": "non-syndromic syndactyly"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    }
  ]
}