{
  "id": 22229,
  "label": "mitochondrial complex II deficiency, nuclear type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0031230",
  "properties": {
    "xrefs": [
      "GARD:0025696",
      "OMIMPS:252011"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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"
    }
  ],
  "children": [
    {
      "id": 22139,
      "label": "mitochondrial complex 2 deficiency, nuclear type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22229
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016429",
          "MEDGEN:1742371",
          "OMIM:619166",
          "UMLS:C5436933"
        ],
        "synonyms": [
          "MC2DN2",
          "mitochondrial complex 2 deficiency, nuclear type 2",
          "mitochondrial complex II deficiency, nuclear type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030935"
    },
    {
      "id": 22141,
      "label": "mitochondrial complex 2 deficiency, nuclear type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        22229
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030937"
    },
    {
      "id": 22161,
      "label": "mitochondrial complex 2 deficiency, nuclear type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        22229
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016438",
          "MEDGEN:1782861",
          "OMIM:619224",
          "UMLS:C5543176"
        ],
        "synonyms": [
          "MC2DN4",
          "SDHB-related Nuclear type mitocondrial complex II deficiency",
          "mitochondrial complex 2 deficiency, nuclear type 4",
          "mitochondrial complex II deficiency, nuclear type 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal recessive disorder due to pathogenic variants in the SDHB gene, resulting in Mitochondrial complex II deficiency and a variety of clinical manifestations, including neurological and muscular symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0030974"
    },
    {
      "id": 24031,
      "label": "mitochondrial complex II deficiency, nuclear type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        22229
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060537",
          "GARD:0005053",
          "ICD9:277.6",
          "MEDGEN:1814582",
          "MESH:C565375",
          "OMIM:252011",
          "Orphanet:3208",
          "SCTID:124165006",
          "UMLS:C5700310"
        ],
        "synonyms": [
          "isolated mitochondrial respiratory chain complex II deficiency",
          "isolated succinate-CoQ reductase deficiency",
          "isolated succinate-coenzyme Q reductase deficiency",
          "isolated succinate-ubiquinone reductase deficiency",
          "mitochondrial complex II deficiency, nuclear type 1",
          "complex 2 mitochondrial respiratory chain deficiency",
          "mitochondrial complex 2 deficiency",
          "mitochondrial respiratory chain complex II deficiency",
          "succinate CoQ reductase deficiency",
          "succinate dehydrogenase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100294"
    }
  ],
  "roots": [
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    }
  ]
}