{
  "id": 12240,
  "label": "lung agenesis-heart defect-thumb anomalies syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011116",
  "properties": {
    "xrefs": [
      "GARD:0003378",
      "MEDGEN:477585",
      "MESH:C535708",
      "OMIM:601612",
      "Orphanet:1120",
      "SCTID:721976003",
      "UMLS:C3275954"
    ],
    "synonyms": [
      "Mardini-Nyhan syndrome",
      "LACHT",
      "Manouvrier syndrome",
      "Mardini-Nyhan association",
      "lung agenesis heart defect thumb anomalies",
      "lung agenesis, congenital heart defects, and thumb anomalies syndrome",
      "pulmonary aplasia and triphalangia of the thumb"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6815,
      "label": "respiratory system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1579",
          "EFO:0000684",
          "ICD10CM:J00-J99",
          "ICD9:460-519",
          "ICD9:500-508",
          "ICD9:503",
          "ICD9:508",
          "ICD9:508.1",
          "ICD9:508.8",
          "ICD9:508.9",
          "ICD9:510-519",
          "ICD9:516",
          "ICD9:516.8",
          "ICD9:516.9",
          "ICD9:517",
          "ICD9:517.8",
          "ICD9:519",
          "ICD9:519.1",
          "ICD9:519.3",
          "ICD9:519.8",
          "ICD9:519.9",
          "ICD9:V12.60",
          "ICD9:V47.2",
          "MEDGEN:48421",
          "MESH:D012140",
          "NANDO:1100010",
          "NCIT:C26871",
          "SCTID:50043002",
          "UMLS:C0035204"
        ],
        "synonyms": [
          "disease of respiratory system",
          "disease or disorder of respiratory system",
          "disorder of respiratory system",
          "respiratory disease",
          "respiratory disorder",
          "respiratory system disease",
          "respiratory system disease or disorder",
          "respiratory system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."
      },
      "child_count": 59,
      "reference_id": "MONDO:0005087"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6815,
      "label": "respiratory system disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}