{
  "id": 13202,
  "label": "Carney complex - trismus - pseudocamptodactyly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012137",
  "properties": {
    "xrefs": [
      "GARD:0017448",
      "MEDGEN:332400",
      "OMIM:608837",
      "Orphanet:319340",
      "UMLS:C1837245"
    ],
    "synonyms": [
      "Carney complex variant",
      "CARNEY complex variant"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16167,
      "label": "Carney complex",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050471",
          "GARD:0001119",
          "ICD10CM:D44.8",
          "MEDGEN:140810",
          "MESH:D056733",
          "NANDO:1200756",
          "NCIT:C4705",
          "Orphanet:1359",
          "SCTID:733491005",
          "UMLS:C0406810",
          "icd11.foundation:1051158630"
        ],
        "synonyms": [
          "CNC",
          "Carney complex",
          "Carney syndrome",
          "Carney's syndrome",
          "LAMB",
          "Myxoma-spotty pigmentation-endocrine overactivity syndrome",
          "atrial myxoma with lentigines",
          "lamb",
          "lentigines, atrial myxoma, mucocutaneous myoma, blue Nevus syndrome",
          "nevi, atrial myxoma, skin myxoma, ephelides syndrome",
          "Carney Complex, type 1",
          "Carney Complex, type 2",
          "Myxoma - spotty pigmentation - endocrine overactivity"
        ],
        "definition": "Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015285"
    },
    {
      "id": 16946,
      "label": "heart-hand syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020573",
          "MEDGEN:1853290",
          "Orphanet:228184",
          "UMLS:C5848054"
        ],
        "synonyms": [
          "atriodigital dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Heart-hand syndrome refers to a group of congenital disorders characterized by malformations of the upper limbs and heart. To date, heart-hand syndrome comprises the following rare syndromes; Holt-Oram syndrome; heart-hand syndrome type 2; heart-hand syndrome type 3; heart hand syndrome, Slovenian type, brachydactyly-long thumb; and patent ductus arteriosus-bicuspid aortic valve - hand anomalies."
      },
      "child_count": 24,
      "reference_id": "MONDO:0016432"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16167,
      "label": "Carney complex"
    },
    {
      "id": 16946,
      "label": "heart-hand syndrome"
    }
  ]
}