{
  "id": 8737,
  "label": "clubfoot",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007342",
  "properties": {
    "xrefs": [
      "DOID:11836",
      "ICD10CM:Q66.0",
      "ICD9:754.51",
      "MEDGEN:3130",
      "MESH:D003025",
      "NCIT:C84641",
      "OMIM:119800",
      "SCTID:397932003",
      "UMLS:C0009081"
    ],
    "synonyms": [
      "club foot",
      "clubbed foot",
      "congenital talipes equinovarus",
      "equinovarus deformity of foot (finding)",
      "talipes",
      "talipes equinovarus",
      "CCF",
      "clubfoot, congenital, with or without deficiency of long bones and/or mirror-IMAGE polydactyly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "The most common congenital deformation of the foot, occurring in 1 of 1,000 live births. The most common form is talipes equinovarus, where the deformed foot is turned downward and inward sharply."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16682,
      "label": "familial clubfoot with or without associated lower limb anomalies",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017093",
          "MEDGEN:1843133",
          "Orphanet:199315",
          "UMLS:C5680522"
        ],
        "definition": "Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016046"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019210",
          "MEDGEN:1842256",
          "Orphanet:93457",
          "UMLS:C5680277"
        ],
        "synonyms": [
          "non-syndromic limb hypoplasia",
          "nonsyndromic limb reduction defect",
          "isolated limb reduction defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 40,
      "reference_id": "MONDO:0019713"
    }
  ],
  "children": [
    {
      "id": 17691,
      "label": "familial clubfoot due to 5q31 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017336",
          "MEDGEN:1826065",
          "Orphanet:293144",
          "UMLS:C5679944"
        ],
        "synonyms": [
          "hereditary clubfoot due to 5q31 microdeletion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017382"
    },
    {
      "id": 17692,
      "label": "familial clubfoot due to PITX1 point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017337",
          "MEDGEN:1814442",
          "Orphanet:293150",
          "UMLS:C5679943"
        ],
        "synonyms": [
          "hereditary clubfoot due to PITX1 point mutation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017383"
    }
  ],
  "roots": [
    {
      "id": 16682,
      "label": "familial clubfoot with or without associated lower limb anomalies"
    },
    {
      "id": 19479,
      "label": "non-syndromic limb reduction defect"
    }
  ]
}