{
  "id": 14154,
  "label": "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013116",
  "properties": {
    "xrefs": [
      "GARD:0010522",
      "MEDGEN:416525",
      "MESH:C567769",
      "OMIM:613076",
      "Orphanet:330054",
      "UMLS:C2751320"
    ],
    "synonyms": [
      "congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome",
      "congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome",
      "myopathy, mitochondrial progressive, with congenital cataract and developmental delay",
      "mitochondrial Complex deficiency, combined",
      "myopathy with cataract and combined respiratory chain deficiency",
      "myopathy with cataract and combined respiratory-chain deficiency",
      "myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928,
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:699",
          "GARD:0020371",
          "MEDGEN:56484",
          "MESH:D017240",
          "MedDRA:10027710",
          "NCIT:C101328",
          "Orphanet:206966",
          "UMLS:C0162670",
          "icd11.foundation:601991549"
        ],
        "synonyms": [
          "mitochondrial myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by mitochondrial abnormalities."
      },
      "child_count": 48,
      "reference_id": "MONDO:0009637"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    }
  ]
}