{
  "id": 22141,
  "label": "mitochondrial complex 2 deficiency, nuclear type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030937",
  "properties": {
    "xrefs": [
      "GARD:0016430",
      "MEDGEN:1751884",
      "OMIM:619167",
      "UMLS:C5436934"
    ],
    "synonyms": [
      "MC2DN3",
      "SDHD-related Nuclear type mitochondrial complex II deficiency",
      "mitochondrial complex 2 deficiency, nuclear type 3",
      "mitochondrial complex II deficiency, nuclear type 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A an autosomal recessive caused by pathogenic variants in the SDHD gene, leading to dysfunction of mitochondrial complex II. Clinical features are variable and may include Leigh syndrome, cardiomyopathy, and other neurological and muscular manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 22229,
      "label": "mitochondrial complex II deficiency, nuclear type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        10856
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025696",
          "OMIMPS:252011"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0031230"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 22229,
      "label": "mitochondrial complex II deficiency, nuclear type"
    }
  ]
}