{
  "id": 18068,
  "label": "infantile spasms-broad thumbs syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017852",
  "properties": {
    "xrefs": [
      "GARD:0003002",
      "MEDGEN:1667345",
      "Orphanet:3173",
      "UMLS:C4749287"
    ],
    "synonyms": [
      "Tsao-Ellingson syndrome",
      "Tsao Ellingson syndrome",
      "infantile spasms broad thumbs"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare neurologic disorder characterized by profound developmental delay, facial dysmorphism (i.e. microcephaly, large anterior fontanel, hypertelorism, downslanting palpebral fissures, beaked nose, micrognathia), broad thumbs and flexion and/or extension spasms. Bilateral cataracts, hypertrophic cardiomyopathy and hydrocele have also been reported. EEG shows hypsarrhythmic features and MRI may reveal partial agenesis of the corpus callosum, mild brain atrophy and/or ventriculomegaly. There have been no further descriptions in the literature since 1990."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16436
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019436",
          "Orphanet:98258"
        ],
        "synonyms": [
          "epilepsy syndrome of infancy",
          "infantile epilepsy syndrome",
          "infantile onset epilepsy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An epilepsy syndrome that occurs between 28 days to one year of life."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19724,
      "label": "infantile epilepsy syndrome"
    }
  ]
}