{
  "id": 9788,
  "label": "Stormorken syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008497",
  "properties": {
    "xrefs": [
      "DOID:0060354",
      "GARD:0005188",
      "ICD9:759.89",
      "MEDGEN:350028",
      "MESH:C566108",
      "OMIM:185070",
      "Orphanet:3204",
      "SCTID:711407000",
      "UMLS:C1861451"
    ],
    "synonyms": [
      "Stormorken syndrome",
      "Thrombocytopathy-asplenia-miosis syndrome",
      "STRMK",
      "Stormorken-Sjaastad-Langslet syndrome",
      "Thrombocytopathy asplenia miosis",
      "Thrombocytopathy, asplenia, and miosis",
      "york Platelet syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Stormorken-Sjaastad-Langslet syndrome is characterized by thrombocytopathy, asplenia, miosis, muscle fatigue, migraine, dyslexia, and ichthyosis. It has been described in six members of one family. It is transmitted as an autosomal dominant trait."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021967",
          "MEDGEN:1843101",
          "Orphanet:477794",
          "UMLS:C5681257"
        ],
        "synonyms": [
          "syndromic constitutional thrombocytopenia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0018795"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18746,
      "label": "syndromic constitutional thrombocytopenia"
    }
  ]
}