{
  "id": 9577,
  "label": "polydactyly of a triphalangeal thumb",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008270",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 17726,
      "label": "preaxial polydactyly of fingers",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12458
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017425"
    }
  ],
  "children": [
    {
      "id": 17810,
      "label": "polydactyly of a triphalangeal thumb, unilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9577
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295148",
          "icd11.foundation:71240015"
        ],
        "synonyms": [
          "preaxial polydactyly type 2, unilateral",
          "unilateral PPD2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017525"
    },
    {
      "id": 17811,
      "label": "polydactyly of a triphalangeal thumb, bilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9577
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295150",
          "icd11.foundation:866920497"
        ],
        "synonyms": [
          "bilateral PPD2",
          "preaxial polydactyly type 2, bilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017526"
    }
  ],
  "roots": [
    {
      "id": 17726,
      "label": "preaxial polydactyly of fingers"
    }
  ]
}