{
  "id": 23886,
  "label": "X-linked recessive mitochondrial myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100138",
  "properties": {
    "xrefs": [
      "GARD:0026061"
    ],
    "synonyms": [
      "X-linked recessive mitochondrial myopathy, lactic acidosis, cognitive impairment and autistic features"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A mitochondrial myopathy caused by defects in the MICOS subunit gene APOO (MIC26). Modelling in yeast and flies demonstrate an inability to insert MICOS complex into the inner mitohondrial membrane. Associated symptoms include, lactic acidosis, cognitive impairment and autistic features."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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": 20040,
      "label": "X-linked recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080012",
          "MEDGEN:1798083",
          "UMLS:C5566660"
        ],
        "definition": "X-linked recessive form of disease."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020605"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}