{
  "id": 18055,
  "label": "multiple sclerosis-ichthyosis-factor VIII deficiency syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017837",
  "properties": {
    "xrefs": [
      "GARD:0018787",
      "MEDGEN:1391655",
      "Orphanet:3151",
      "UMLS:C4518551"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome is characterized by the association of multiple sclerosis with lamellar ichthyosis and hematological anomalies (beta thalassemia minor and a quantitative deficit of factor VIII-von Willebrand complex). Other clinical manifestations may include eye involvement (optic atrophy, diplopia), neuromuscular involvement (ataxia, pyramidal syndrome, gait disturbance) and sensory disorder. There have been no further descriptions in the literature since 1992."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4359,
      "label": "coagulation protein disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2212",
          "GARD:0023096",
          "MEDGEN:108723",
          "MESH:D020147",
          "NCIT:C27215",
          "SCTID:86075001",
          "UMLS:C0600503"
        ],
        "synonyms": [
          "coagulation factor deficiency",
          "coagulation factor deficiency syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Congenital or acquired deficiency of one of the coagulation factors. It results in bleeding."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002242"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7217
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2213",
          "ICD9:287.9",
          "MEDGEN:6799",
          "MESH:D006474",
          "NCIT:C115221",
          "UMLS:C0019087"
        ],
        "synonyms": [
          "bleeding diathesis",
          "bleeding disorder",
          "bleeding predisposition",
          "bleeding tendency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (blood coagulation disorders) or another abnormality causing a structural flaw in the blood vessels (hemostatic disorders)."
      },
      "child_count": 28,
      "reference_id": "MONDO:0002243"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4359,
      "label": "coagulation protein disease"
    },
    {
      "id": 4360,
      "label": "hemorrhagic disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}