{
  "id": 15770,
  "label": "combined oxidative phosphorylation deficiency 29",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014781",
  "properties": {
    "xrefs": [
      "DOID:0111501",
      "GARD:0017863",
      "MEDGEN:1799030",
      "OMIM:616811",
      "Orphanet:478029",
      "UMLS:C5567607"
    ],
    "synonyms": [
      "COXPD29",
      "TXN2 combined oxidative phosphorylation deficiency",
      "combined oxidative phosphorylation deficiency 29",
      "combined oxidative phosphorylation deficiency 29; COXPD29",
      "combined oxidative phosphorylation deficiency caused by mutation in TXN2",
      "combined oxidative phosphorylation deficiency type 29"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3109,
      "label": "combined oxidative phosphorylation deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16918
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060286",
          "GARD:0012893",
          "MEDGEN:1626645",
          "OMIMPS:609060",
          "UMLS:C4540031",
          "icd11.foundation:1953023896"
        ],
        "definition": "A mitochondrial oxidative phosphorylation disorder in which multiple mitochondrial respiratory chain complexes are affected."
      },
      "child_count": 58,
      "reference_id": "MONDO:0000732"
    },
    {
      "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": 21292,
      "label": "inherited neurodegenerative disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7208,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020280",
          "MEDGEN:1825988",
          "MESH:D020271",
          "NCIT:C97073",
          "Orphanet:183500",
          "UMLS:C5680568"
        ],
        "synonyms": [
          "genetic neurodegenerative disease",
          "hereditary neurodegenerative disease",
          "hereditary neurodegenerative disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited disorder characterized by progressive degeneration and atrophy of the nervous system."
      },
      "child_count": 164,
      "reference_id": "MONDO:0024237"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3109,
      "label": "combined oxidative phosphorylation deficiency"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 21292,
      "label": "inherited neurodegenerative disorder"
    }
  ]
}