{
  "id": 14044,
  "label": "EAST syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013005",
  "properties": {
    "xrefs": [
      "DOID:0060484",
      "GARD:0010514",
      "MEDGEN:411243",
      "MESH:C557674",
      "OMIM:612780",
      "Orphanet:199343",
      "SCTID:721207002",
      "UMLS:C2748572"
    ],
    "synonyms": [
      "EAST syndrome",
      "seizures, sensorineural deafness, ataxia, intellectual disability and electrolyte imbalance",
      "seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome",
      "sesame syndrome",
      "SESAMES",
      "epilepsy, ataxia, sensorineural deafness, and tubulopathy",
      "seizures - sensorineural deafness - ataxia - intellectual disability - electrolyte imbalance",
      "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance",
      "seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance"
    ],
    "categories": [
      {
        "ref": "MONDO:0002118",
        "name": "urinary system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "SeSAME syndrome is characterized by seizures, sensorineural deafness, ataxia, intellectual deficit, and electrolyte imbalance (hypokalemia, metabolic alkalosis, and hypomagnesemia)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16626,
      "label": "inherited renal tubular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20667,
        23932
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020306",
          "MEDGEN:1826140",
          "Orphanet:183592",
          "UMLS:C5680544"
        ],
        "synonyms": [
          "genetic renal tubular disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002118",
            "name": "urinary system disorder"
          }
        ]
      },
      "child_count": 56,
      "reference_id": "MONDO:0015962"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16626,
      "label": "inherited renal tubular disease"
    },
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}