{
  "id": 9576,
  "label": "polydactyly of a biphalangeal thumb",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008269",
  "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."
  },
  "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"
    },
    {
      "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": 17808,
      "label": "polydactyly of a biphalangeal thumb, unilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9576
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295144"
        ],
        "synonyms": [
          "preaxial polydactyly type 1, unilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017523"
    },
    {
      "id": 17809,
      "label": "polydactyly of a biphalangeal thumb, bilateral",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9576
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:295146"
        ],
        "synonyms": [
          "preaxial polydactyly type 1, bilateral"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017524"
    }
  ],
  "roots": [
    {
      "id": 17726,
      "label": "preaxial polydactyly of fingers"
    },
    {
      "id": 24804,
      "label": "polydactyly-syndactyly-triphalangism"
    }
  ]
}