{
  "id": 22161,
  "label": "mitochondrial complex 2 deficiency, nuclear type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0030974",
  "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."
  },
  "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"
    }
  ]
}