{
  "id": 17726,
  "label": "preaxial polydactyly of fingers",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017425",
  "properties": {
    "xrefs": [
      "GARD:0012767",
      "MEDGEN:87498",
      "OMIMPS:174400",
      "Orphanet:294939",
      "UMLS:C0345354",
      "icd11.foundation:1066753144"
    ],
    "synonyms": [
      "preaxial polydactyly of hand"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Preaxial polydactyly of fingers is a limb malformation syndrome characterized by the attachment of a superfluous digit on the first digit. Four types have been defined: Type I (PPD1 or biphalangeal thumb polydactyly) which shows duplication of one or more skeletal components of a biphalangeal thumb; type II (PPD2 or polydactyly of a triphalangeal thumb) which involves the presence of a usually opposable triphalangeal thumb with or without additional duplication of thumb; type III (PPD3 or polydactyly of an index finger) where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific for the index finger; and type IV (PPD4 or polysyndactyly) which shows variably mild degrees of thumb duplication and variable syndactyly between 3rd and 4th fingers. Among the four types, PPD1 is the most frequent form. Preaxial polydactyly of fingers is caused by disruptions to the developmental patterning of the limb along the anterior-posterior axis that lead to changes in digit number and identity."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 12458,
      "label": "non-syndromic polydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MedDRA:10036063",
          "Orphanet:2913",
          "icd11.foundation:1534380955"
        ],
        "synonyms": [
          "isolated polydactyly (disease)",
          "nonsyndromic polydactyly",
          "nonsyndromic polydactyly (disease)",
          "Extra digits",
          "isolated polydactyly",
          "polydactylia",
          "supernumerary digits"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits."
      },
      "child_count": 10,
      "reference_id": "MONDO:0011348"
    }
  ],
  "children": [
    {
      "id": 9576,
      "label": "polydactyly of a biphalangeal thumb",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17726,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060987",
          "GARD:0004417",
          "MEDGEN:237235",
          "MESH:C536332",
          "OMIM:174400",
          "Orphanet:93339",
          "SCTID:445216006",
          "UMLS:C1395852"
        ],
        "synonyms": [
          "PPD1",
          "polydactyly, preaxial type 1",
          "preaxial polydactyly type 1",
          "Fromont anomaly",
          "polydactyly preaxial 1",
          "polydactyly, preaxial 1",
          "polydactyly, preaxial I",
          "preaxial polydactyly 1",
          "thenar hypoplasia",
          "thumb polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb. Hands are preferentially affected (in bilateral), and the right hand is more commonly involved than the left."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008269"
    },
    {
      "id": 9577,
      "label": "polydactyly of a triphalangeal thumb",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17726
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060986",
          "GARD:0005289",
          "MEDGEN:357423",
          "OMIM:174500",
          "Orphanet:93336",
          "SCTID:715710001",
          "UMLS:C1868114",
          "icd11.foundation:728781925"
        ],
        "synonyms": [
          "PPD2",
          "polydactyly, preaxial type 2",
          "polydactyly, preaxial type II",
          "preaxial polydactyly type 2",
          "triphalangeal thumb, type i",
          "TPT-PS syndrome",
          "polydactyly of triphalangeal thumb",
          "polydactyly, preaxial 2",
          "polydactyly, preaxial II",
          "triphalangeal thumb",
          "triphalangeal thumb with polysyndactyly",
          "triphalangeal thumb-polydactyly syndrome",
          "triphalangeal thumb-polysyndactyly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of preaxial polydactyly of fingers, a limb malformation syndrome, that is characterized by the presence of a usually opposable triphalangeal thumb with or without additional duplication of one or more skeletal components of the thumb. The thumb appearance can differ widely in shape (wedge to rectangular) or it can be deviated in the radio-ulnar plane (clinodactyly). PPD2 is also associated with systemic syndromes, including Holt-Oram syndrome and Fanconi anemia."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008270"
    },
    {
      "id": 9578,
      "label": "polydactyly of an index finger",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17726,
        24804
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002256",
          "MEDGEN:357422",
          "MESH:C566784",
          "OMIM:174600",
          "Orphanet:93337",
          "SCTID:723446006",
          "UMLS:C1868113",
          "icd11.foundation:982050714"
        ],
        "synonyms": [
          "PPD3",
          "polydactyly, preaxial type 3",
          "preaxial polydactyly type 3",
          "index finger polydactyly",
          "polydactyly, preaxial 3",
          "polydactyly, preaxial III"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Polydactyly of an index finger or PPD3 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, where the thumb is replaced by one or two triphalangeal digits with dermatoglyphic pattern specific of the index finger. Two forms of PPD3 have been characterized: unilateral and bilateral. There have been no further descriptions in the literature since 1962."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008271"
    }
  ],
  "roots": [
    {
      "id": 12458,
      "label": "non-syndromic polydactyly"
    }
  ]
}