{
  "id": 18263,
  "label": "Wolfram syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018105",
  "properties": {
    "xrefs": [
      "DOID:10632",
      "GARD:0007898",
      "ICD9:250.80",
      "MEDGEN:21923",
      "MESH:D014929",
      "NANDO:1200757",
      "NCIT:C35133",
      "Orphanet:3463",
      "SCTID:70694009",
      "UMLS:C0043207",
      "icd11.foundation:151381747"
    ],
    "synonyms": [
      "DIDMOAD",
      "DIDMOAD syndrome",
      "Wolfram syndrome",
      "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness syndrome",
      "diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome",
      "diabetes mellitus and insipidus with optic atrophy and deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Wolfram syndrome (WS) also known as DIDMOAD, is a neurodegenerative disorder characterized by type I diabetes mellitus (DM), diabetes insipidus (DI), sensorineural deafness (D), bilateral optical atrophy (OA) and neurological signs. Other related problems are urinary tract atony, ataxia, peripheral neuropathy, psychiatric disorders and/or seizures. 2 types of WS may be distinguished: type 1 and type 2 (WS1 and WS2)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "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": [
    {
      "id": 10348,
      "label": "Wolfram syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18263,
        24687
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110629",
          "GARD:0024648",
          "MEDGEN:1641635",
          "OMIM:222300",
          "UMLS:C4551693"
        ],
        "synonyms": [
          "WFS1",
          "WFS1 Wolfram syndrome",
          "Wolfram syndrome 1",
          "Wolfram syndrome caused by mutation in WFS1",
          "Wolfram syndrome type 1",
          "WOLFRAM syndrome 1",
          "Wfs",
          "diabetes insipidus and mellitus with optic atrophy and deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Wolfram syndrome in which the cause of the disease is a mutation in the WFS1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009101"
    },
    {
      "id": 11937,
      "label": "Wolfram syndrome, mitochondrial form",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080583",
          "GARD:0015313",
          "MEDGEN:325511",
          "MESH:C564012",
          "OMIM:598500",
          "UMLS:C1838782"
        ],
        "synonyms": [
          "Wolfram syndrome, mitochondrial form",
          "Didmoad syndrome, mitochondrial form",
          "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010800"
    },
    {
      "id": 12602,
      "label": "Wolfram syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        18263
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110630",
          "GARD:0015374",
          "MEDGEN:347604",
          "MESH:C565733",
          "OMIM:604928",
          "UMLS:C1858028"
        ],
        "synonyms": [
          "CISD2 Wolfram syndrome",
          "WFS2",
          "Wolfram syndrome 2",
          "Wolfram syndrome caused by mutation in CISD2",
          "Wolfram syndrome type 2",
          "WOLFRAM syndrome 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011502"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    }
  ]
}