{
  "id": 23965,
  "label": "mitochondrial complex I deficiency, nuclear type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100224",
  "properties": {
    "xrefs": [
      "DOID:0112074",
      "GARD:0015201",
      "NANDO:1200180",
      "OMIM:252010"
    ],
    "synonyms": [
      "mitochondrial complex 1 deficiency",
      "mitochondrial complex I deficiency",
      "MC1DN1",
      "NADH-coenzyme Q reductase deficiency",
      "NADH:Q(1) oxidoreductase deficiency",
      "mitochondrial NADH dehydrogenase component of Complex I, deficiency of",
      "mitochondrial complex I deficiency, nuclear type 1"
    ],
    "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": 23964,
      "label": "mitochondrial complex I deficiency, nuclear type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23882
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112065",
          "GARD:0026087",
          "OMIMPS:252010"
        ],
        "definition": "Any mitochondrial complex I deficiency in which the cause of the disease is a mutation in the nuclear-encoded genes that encode structural subunits or assembly factors of complex I."
      },
      "child_count": 37,
      "reference_id": "MONDO:0100223"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 23964,
      "label": "mitochondrial complex I deficiency, nuclear type"
    }
  ]
}