{
  "id": 21728,
  "label": "mitochondrial complex I deficiency, nuclear type 30",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0026721",
  "properties": {
    "xrefs": [
      "DOID:0112098",
      "GARD:0015284",
      "MEDGEN:1648313",
      "OMIM:301021",
      "UMLS:C4746985"
    ],
    "synonyms": [
      "MC1DN30",
      "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 30"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 29254,
      "label": "NDUFB11-related disorders",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities."
      },
      "child_count": 4,
      "reference_id": "MONDO:1040023"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23964,
      "label": "mitochondrial complex I deficiency, nuclear type"
    },
    {
      "id": 29254,
      "label": "NDUFB11-related disorders"
    }
  ]
}