{
  "id": 12458,
  "label": "non-syndromic polydactyly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011348",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 20259,
      "label": "polydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6893,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1148",
          "HP:0010442",
          "ICD10CM:Q69",
          "ICD10WHO:Q69",
          "ICD9:755.0",
          "ICD9:755.00",
          "MEDGEN:57774",
          "MESH:D017689",
          "MedDRA:10036063",
          "NCIT:C87110",
          "OMIM:603596",
          "SCTID:367506006",
          "UMLS:C0152427"
        ],
        "synonyms": [
          "hyperdactyly",
          "polydactylism",
          "polydactyly",
          "polydactyly (disease)",
          "postaxial polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by the presence of polydactyly, including syndromic and non-syndromic forms."
      },
      "child_count": 6,
      "reference_id": "MONDO:0021003"
    }
  ],
  "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": 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": 17727,
      "label": "postaxial polydactyly of fingers",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12458
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012460",
          "MEDGEN:609221",
          "Orphanet:294942",
          "SCTID:205131007",
          "UMLS:C0431904",
          "icd11.foundation:1146378807"
        ],
        "synonyms": [
          "postaxial polydactyly of hand"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017426"
    },
    {
      "id": 17748,
      "label": "central polydactyly of fingers",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12458
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021200",
          "MEDGEN:609220",
          "Orphanet:295004",
          "SCTID:205130008",
          "UMLS:C0431903",
          "icd11.foundation:243366415"
        ],
        "synonyms": [
          "central polydactyly of hand",
          "mesoaxial polydactyly",
          "mesoaxial polydactyly of fingers",
          "mirror hand",
          "central polydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017456"
    },
    {
      "id": 17749,
      "label": "Preaxial polydactyly of toes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12458
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012771",
          "MEDGEN:609309",
          "Orphanet:295006",
          "SCTID:205132000",
          "UMLS:C0432036",
          "icd11.foundation:1685587490"
        ],
        "synonyms": [
          "bifid great toes",
          "bifid halluces",
          "bifid hallux",
          "preaxial polydactyly of foot"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0017457"
    },
    {
      "id": 19209,
      "label": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3395,
        12458,
        24020,
        24270,
        29234
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010341",
          "MEDGEN:355095",
          "OMIMPS:603387",
          "Orphanet:83473",
          "SCTID:722036008",
          "UMLS:C1863924"
        ],
        "synonyms": [
          "MPPH syndrome",
          "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus",
          "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome",
          "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019375"
    },
    {
      "id": 20244,
      "label": "postaxial polydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12458
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025268",
          "MEDGEN:67394",
          "OMIMPS:174200",
          "UMLS:C0220697"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020927"
    },
    {
      "id": 24777,
      "label": "mirror-image polydactyly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12458
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028050",
          "MEDGEN:1814580",
          "Orphanet:498494",
          "UMLS:C5700308"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare non-syndromic limb malformation characterized by a hand or foot with more than five digits that has a recognizable anterior/posterior axis of symmetry, either with a hallux- or thumb-like structure or an interdigital space in the middle. The most lateral digits on each side typically resemble fifth fingers or toes. The malformation may be unilateral or bilateral and may occur in isolation or in association with other congenital anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700479"
    }
  ],
  "roots": [
    {
      "id": 20259,
      "label": "polydactyly"
    }
  ]
}