{
  "id": 14851,
  "label": "deafness-encephaloneuropathy-obesity-valvulopathy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013837",
  "properties": {
    "xrefs": [
      "DOID:0070239",
      "GARD:0017230",
      "MEDGEN:766268",
      "OMIM:614651",
      "Orphanet:254898",
      "UMLS:C3553354"
    ],
    "synonyms": [
      "coenzyme Q10 deficiency, primary, type 2",
      "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome",
      "COQ10D2",
      "coenzyme Q10 deficiency, primary, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18296,
      "label": "coenzyme Q10 deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050730",
          "GARD:0010423",
          "MEDGEN:334528",
          "MESH:C564403",
          "NCIT:C142083",
          "OMIMPS:607426",
          "Orphanet:35656",
          "SCTID:724575009",
          "UMLS:C1843920",
          "icd11.foundation:1251664337"
        ],
        "synonyms": [
          "CoQ10 deficiency",
          "coenzyme Q10 deficiency disease",
          "coenzyme Q10 deficiency, primary",
          "CoQ10 deficiency, primary"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous condition, typically inherited in an autosomal recessive fashion, characterized by coenzyme Q10 deficiency."
      },
      "child_count": 20,
      "reference_id": "MONDO:0018151"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18296,
      "label": "coenzyme Q10 deficiency"
    }
  ]
}