{
  "id": 10431,
  "label": "epilepsy-telangiectasia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009188",
  "properties": {
    "xrefs": [
      "GARD:0002168",
      "MEDGEN:384017",
      "MESH:C535497",
      "OMIM:226850",
      "Orphanet:1951",
      "UMLS:C1856929"
    ],
    "synonyms": [
      "epilepsy telangiectasia",
      "epilepsy-telangiectasia",
      "intellectual disability, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency",
      "mental retardation, epilepsy, palpebral conjunctival telangiectasias and IgA deficiency"
    ],
    "definition": "Epilepsy telangiectasia syndrome is characterized by intellectual deficit, epilepsy, palpebral conjunctival telangiectasias and diminished serum IgA, particular facies and a shortened fifth finger. It has been reported in six siblings from a Mexican family. It is probably transmitted as an autosomal recessive trait."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}