{
  "id": 15466,
  "label": "Charcot-Marie-Tooth disease recessive intermediate D",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014467",
  "properties": {
    "xrefs": [
      "DOID:0110203",
      "GARD:0017723",
      "MEDGEN:1800450",
      "OMIM:616039",
      "Orphanet:435998",
      "UMLS:C5569027"
    ],
    "synonyms": [
      "CMTRID",
      "COX6A1 Charcot-Marie-Tooth disease",
      "Charcot-Marie-Tooth disease caused by mutation in COX6A1",
      "Charcot-Marie-Tooth disease recessive intermediate type D",
      "Charcot-Marie-Tooth disease, recessive Intermediate type D",
      "RI-CMT type D",
      "autosomal recessive intermediate Charcot-Marie-Tooth disease type D",
      "Charcot-Marie-Tooth disease, recessive intermediate D"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the COX6A1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        18739
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012452",
          "MEDGEN:1843095",
          "Orphanet:268337",
          "UMLS:C5679732"
        ],
        "synonyms": [
          "RI-CMT",
          "autosomal recessive intermediate Charcot-Marie-Tooth disease",
          "intermediate Charcot-Marie-Tooth disease, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of intermediate Charcot-Marie-Tooth disease."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017058"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 17439,
      "label": "autosomal recessive intermediate Charcot-Marie-Tooth disease"
    }
  ]
}