{
  "id": 3103,
  "label": "non-syndromic synpolydactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000722",
  "properties": {
    "xrefs": [
      "DOID:0060242",
      "GARD:0022819"
    ],
    "synonyms": [
      "isolated synpolydactyly",
      "nonsyndromic synpolydactyly",
      "synpolydactyly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A synpolydactyly that is not part of a larger syndrome."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    },
    {
      "id": 20703,
      "label": "synpolydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005087",
          "MEDGEN:437845",
          "MESH:C538153",
          "NCIT:C125597",
          "NCIT:C75003",
          "Orphanet:93403",
          "SCTID:715724002",
          "SCTID:84598000",
          "UMLS:C2699746"
        ],
        "synonyms": [
          "polysyndactyly",
          "syndactyly type 2",
          "synpolydactyly",
          "SPD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits)."
      },
      "child_count": 1,
      "reference_id": "MONDO:0021651"
    }
  ],
  "children": [
    {
      "id": 9579,
      "label": "polysyndactyly 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3103,
        12458,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060985",
          "GARD:0009903",
          "ICD9:755.10",
          "MEDGEN:357420",
          "MedDRA:10063143",
          "OMIM:174700",
          "Orphanet:93338",
          "UMLS:C1868111",
          "icd11.foundation:973656080"
        ],
        "synonyms": [
          "PPD4",
          "polydactyly, preaxial type 4",
          "polydactyly, preaxial, type IV",
          "preaxial polydactyly type 4",
          "crossed polydactyly type 1",
          "crossed polydactyly, type 1",
          "polydactyly preaxial 4",
          "polydactyly, preaxial 4",
          "polydactyly, preaxial IV",
          "polysyndactyly uncomplicated",
          "polysyndactyly, uncomplicated",
          "preaxial polydactyly 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Preaxial polydactyly characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx, occasional syndactyly of various degrees of third-and-fourth fingers, and duplication of part or all of the first or second toes and syndactyly."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008272"
    },
    {
      "id": 9804,
      "label": "synpolydactyly type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3103,
        12458,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017358",
          "MEDGEN:1809573",
          "OMIM:186000",
          "Orphanet:295195",
          "UMLS:C5574994",
          "icd11.foundation:1701170393"
        ],
        "synonyms": [
          "HOXD13 non-syndromic synpolydactyly",
          "SD2, Vordingborg type",
          "SD2a",
          "SPD, Vordingborg type",
          "SPD1",
          "non-syndromic synpolydactyly caused by mutation in HOXD13",
          "synpolydactyly type 1",
          "synpolydactyly, Vordingborg type",
          "syndactyly, type 2",
          "synpolydactyly 1",
          "synpolydactyly with foot anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008513"
    },
    {
      "id": 13055,
      "label": "synpolydactyly type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3103,
        12458,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017359",
          "MEDGEN:331290",
          "MESH:C564278",
          "OMIM:608180",
          "Orphanet:295197",
          "UMLS:C1842422",
          "icd11.foundation:1370014661"
        ],
        "synonyms": [
          "SD2, Debeer type",
          "SD2b",
          "SPD, Debeer type",
          "SPD2",
          "synpolydactyly type 2",
          "synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses",
          "synpolydactyly, Debeer type",
          "synpolydactyly 2",
          "synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011984"
    },
    {
      "id": 13497,
      "label": "synpolydactyly type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3103
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017360",
          "MEDGEN:344005",
          "MESH:C565216",
          "OMIM:610234",
          "Orphanet:295199",
          "UMLS:C1853255",
          "icd11.foundation:1671501762"
        ],
        "synonyms": [
          "SD2, Malik type",
          "SD2c",
          "SPD, Malik type",
          "SPD3",
          "synpolydactyly, Malik type",
          "synpolydactyly 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012447"
    }
  ],
  "roots": [
    {
      "id": 19340,
      "label": "non-syndromic syndactyly"
    },
    {
      "id": 20703,
      "label": "synpolydactyly"
    }
  ]
}