{
  "id": 23834,
  "label": "LEOPARD syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100082",
  "properties": {
    "xrefs": [
      "DOID:0080548",
      "GARD:0026037",
      "MEDGEN:1631694",
      "OMIM:151100",
      "UMLS:C4551484"
    ],
    "synonyms": [
      "LEOPARD syndrome 1",
      "LEOPARD syndrome type 1",
      "LPRD1",
      "lentiginosis, cardiomyopathic",
      "multiple lentigines syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a heterozygous mutation in the PTPN11 gene on chromosome 12q24."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 9228,
      "label": "Noonan syndrome with multiple lentigines",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        4370,
        16089,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14291",
          "GARD:0001100",
          "ICD9:709.09",
          "MEDGEN:104494",
          "MESH:D044542",
          "MedDRA:10062901",
          "NCIT:C84820",
          "NORD:1360",
          "OMIMPS:151100",
          "Orphanet:500",
          "SCTID:111306001",
          "UMLS:C0175704",
          "icd11.foundation:939197023"
        ],
        "synonyms": [
          "Cardiomyopathic lentiginosis",
          "LEOPARD syndrome",
          "Noonan syndrome with multiple lentigines",
          "familial multiple lentigines syndrome",
          "generalised lentiginosis",
          "lentigines, electrocardiographic conduction defects, 0cular hypertelorism, pulmonary stenosis, abnormalities of the genitals, retarded Growth, deafness",
          "Moynahan syndrome",
          "lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, Deafnes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features."
      },
      "child_count": 12,
      "reference_id": "MONDO:0007893"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 9228,
      "label": "Noonan syndrome with multiple lentigines"
    }
  ]
}