{
  "id": 19780,
  "label": "Noonan syndrome and Noonan-related syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020297",
  "properties": {
    "xrefs": [
      "GARD:0019561",
      "MEDGEN:1826127",
      "MESH:C537846",
      "Orphanet:98733",
      "UMLS:C5681679"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 20302,
      "label": "RASopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        29384
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080690",
          "EFO:1001502",
          "GARD:0022213",
          "MEDGEN:1792298",
          "NCIT:C179667",
          "Orphanet:536391",
          "UMLS:C5555857"
        ],
        "synonyms": [
          "RASopathy",
          "Ras protein signal transduction disease",
          "disorder of Ras protein signal transduction"
        ],
        "definition": "Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction."
      },
      "child_count": 8,
      "reference_id": "MONDO:0021060"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6777,
        6933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080326",
          "MEDGEN:183649",
          "MESH:D024741",
          "NCIT:C84773",
          "OMIMPS:192600",
          "Orphanet:155",
          "SCTID:471885006",
          "UMLS:C0949658",
          "icd11.foundation:1408928442"
        ],
        "synonyms": [
          "cardiomyopathy, familial hypertrophic",
          "familial hypertrophic cardiomyopathy",
          "familila or idiopathic hypertrophic obstructive cardiomyopathy",
          "hereditary hypertrophic cardiomyopathy",
          "hypertrophic familial cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Hypertrophic cardiomyopathy caused by mutations in the genes encoding components of the sarcomere, in the absence of predisposing conditions."
      },
      "child_count": 80,
      "reference_id": "MONDO:0024573"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 10278,
      "label": "Costello syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16087,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050469",
          "GARD:0001550",
          "ICD9:799.89",
          "MEDGEN:108454",
          "MESH:D056685",
          "MedDRA:10067380",
          "NANDO:1200463",
          "NANDO:2200971",
          "NCIT:C84652",
          "NORD:1011",
          "OMIM:218040",
          "Orphanet:3071",
          "SCTID:309776008",
          "UMLS:C0587248",
          "icd11.foundation:1946512039"
        ],
        "synonyms": [
          "Costello syndrome",
          "FCS syndrome",
          "congenital myopathy with excess of muscle spindles",
          "faciocutaneoskeletal syndrome",
          "CSTLO",
          "myopathy, congenital, with excess of muscle spindles"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009026"
    },
    {
      "id": 12975,
      "label": "Noonan syndrome-like disorder with loose anagen hair",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        12041,
        16088,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080691",
          "GARD:0010719",
          "MEDGEN:334697",
          "MESH:C564342",
          "NCIT:C178129",
          "OMIMPS:607721",
          "Orphanet:2701",
          "SCTID:723444009",
          "UMLS:C1843181"
        ],
        "synonyms": [
          "NS/LAH",
          "Noonan syndrome-like disorder with loose anagen hair",
          "Tosti syndrome",
          "NSLH",
          "NSLH1",
          "Noonan syndrome-like disorder with loose anagen hair 1",
          "Noonan-like syndrome with loose anagen hair"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Noonan-like syndrome with loose anagen hair (NS/LAH) is a Noonan-related syndrome, characterized by facial anomalies suggestive of Noonan syndrome ; a distinctive hair anomaly described as loose anagen hair syndrome ; frequent congenital heart defects; distinctive skin features with darkly pigmented skin, keratosis pilaris, eczema or occasional neonatal ichtyosis ; and short stature, often associated with a GH deficiency and psychomotor delays."
      },
      "child_count": 6,
      "reference_id": "MONDO:0011899"
    },
    {
      "id": 13709,
      "label": "Legius syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19140,
        19507,
        19780,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070484",
          "GARD:0010714",
          "ICD9:709.09",
          "MEDGEN:370709",
          "MESH:C548032",
          "NCIT:C176941",
          "OMIM:611431",
          "Orphanet:137605",
          "SCTID:703541007",
          "UMLS:C1969623",
          "icd11.foundation:1025118245"
        ],
        "synonyms": [
          "Legius syndrome",
          "NF1-like syndrome",
          "neurofibromatosis 1-like syndrome",
          "neurofibromatosis type 1 like syndrome",
          "neurofibromatosis type 1-like syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Legius syndrome, also known as NF1-like syndrome, is a rare, genetic skin pigmentation disorder characterized by multiple cafC)-au-lait macules with or without axillary or inguinal freckling."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012669"
    },
    {
      "id": 16162,
      "label": "cardiofaciocutaneous syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16087,
        19138,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060233",
          "GARD:0009146",
          "MEDGEN:266149",
          "MESH:C535579",
          "NANDO:1200462",
          "NANDO:2200967",
          "NCIT:C84617",
          "NORD:891",
          "OMIMPS:115150",
          "Orphanet:1340",
          "SCTID:403770008",
          "UMLS:C1275081"
        ],
        "synonyms": [
          "CFC",
          "CFC syndrome",
          "cardiofaciocutaneous (CFC) syndrome",
          "cardiofaciocutaneous syndrome",
          "cardio-facio-cutaneous syndrome",
          "congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability."
      },
      "child_count": 12,
      "reference_id": "MONDO:0015280"
    },
    {
      "id": 18913,
      "label": "Noonan syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16088,
        19154,
        19780
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3490",
          "GARD:0010955",
          "ICD9:759.89",
          "MEDGEN:18073",
          "MESH:D009634",
          "MedDRA:10029748",
          "NANDO:1200680",
          "NANDO:2200413",
          "NCIT:C34854",
          "NORD:1513",
          "OMIMPS:163950",
          "Orphanet:648",
          "SCTID:205824006",
          "UMLS:C0028326",
          "icd11.foundation:1044395354"
        ],
        "synonyms": [
          "Noonan syndrome",
          "Noonan's syndrome",
          "Noonan-Ehmke syndrome",
          "Ullrich-Noonan syndrome",
          "pseudo-Ullrich-Turner syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "Noonan Syndrome (NS) is characterized by short stature, typical facial dysmorphism and congenital heart defects."
      },
      "child_count": 56,
      "reference_id": "MONDO:0018997"
    }
  ],
  "roots": [
    {
      "id": 20302,
      "label": "RASopathy"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 21518,
      "label": "familial hypertrophic cardiomyopathy"
    }
  ]
}