{
  "id": 23134,
  "label": "mehta lewis patton syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0043127",
  "properties": {
    "xrefs": [
      "GARD:0003450",
      "MEDGEN:419340",
      "MESH:C536147",
      "UMLS:C2931120"
    ],
    "synonyms": [
      "congenital heart disease, ptosis, hypodontia, and craniosynostosis"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      },
      {
        "ref": "MONDO:0006858",
        "name": "mouth disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3108,
      "label": "ptosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7019
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060260",
          "HP:0000508",
          "ICD9:374.3",
          "ICD9:374.30",
          "MEDGEN:2287",
          "MESH:D001763",
          "NCIT:C27298",
          "SCTID:11934000",
          "UMLS:C0005745",
          "icd11.foundation:1361674069"
        ],
        "synonyms": [
          "blepharoptosis",
          "drooping eyelid",
          "eyelid ptosis",
          "ptosis",
          "ptosis (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "The drooping of the upper eyelid."
      },
      "child_count": 3,
      "reference_id": "MONDO:0000728"
    },
    {
      "id": 7116,
      "label": "congenital heart disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6967,
        21294
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1682",
          "EFO:0005207",
          "ICD9:746.84",
          "ICD9:746.89",
          "ICD9:746.9",
          "MEDGEN:57501",
          "MESH:D006330",
          "NCIT:C95834",
          "SCTID:13213009",
          "UMLS:C0152021",
          "icd11.foundation:2004408087"
        ],
        "synonyms": [
          "heart malformation",
          "congenital anomaly of heart",
          "congenital heart defect",
          "congenital heart defects",
          "Abnormality, heart",
          "abnormalities, heart",
          "defect, congenital heart",
          "defects, congenital heart",
          "heart abnormalities",
          "heart abnormality",
          "heart defect, congenital",
          "heart, malformation Of"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heart disease that is present at birth. Representative examples include atrial septal defect, ventricular septal defect, tetralogy of Fallot, and patent foramen ovale."
      },
      "child_count": 46,
      "reference_id": "MONDO:0005453"
    },
    {
      "id": 10068,
      "label": "anodontia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        8422
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13714",
          "GARD:0005818",
          "ICD9:520.0",
          "MEDGEN:98313",
          "MESH:D000848",
          "MedDRA:10002583",
          "OMIM:206780",
          "Orphanet:99797",
          "SCTID:16958000",
          "UMLS:C0399352",
          "icd11.foundation:413433873"
        ],
        "synonyms": [
          "complete absence of teeth",
          "developmental absence of tooth",
          "total anodontia of permanent and deciduous teeth",
          "absence of permanent teeth",
          "anodontia of permanent dentition",
          "teeth, permanent, absence of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008797"
    },
    {
      "id": 16310,
      "label": "craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2340",
          "GARD:0006209",
          "ICD10CM:Q75.0",
          "MEDGEN:1163",
          "MESH:D003398",
          "MedDRA:10048907",
          "MedDRA:10049889",
          "NANDO:2100227",
          "NCIT:C84655",
          "OMIMPS:123100",
          "Orphanet:1531",
          "UMLS:C0010278",
          "icd11.foundation:458033798"
        ],
        "synonyms": [
          "craniosynostosis syndrome",
          "premature closure of cranial sutures",
          "CSO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015469"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6967
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "hereditary heart disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the cardiovascular system."
      },
      "child_count": 146,
      "reference_id": "MONDO:0100547"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3108,
      "label": "ptosis"
    },
    {
      "id": 7116,
      "label": "congenital heart disease"
    },
    {
      "id": 10068,
      "label": "anodontia"
    },
    {
      "id": 16310,
      "label": "craniosynostosis"
    },
    {
      "id": 24272,
      "label": "cardiogenetic disease"
    }
  ]
}