{
  "id": 16322,
  "label": "fatal infantile encephalocardiomyopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015487",
  "properties": {
    "xrefs": [
      "DOID:0050713",
      "GARD:0016569",
      "MEDGEN:903874",
      "Orphanet:1561",
      "SCTID:718124006",
      "UMLS:C4273730"
    ],
    "synonyms": [
      "fatal infantile COX deficiency",
      "fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency",
      "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency",
      "fatal infantile cytochrome C oxidase deficiency",
      "fatal infantile encephalomyopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 6933,
      "label": "familial cardiomyopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6735,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0002945",
          "GARD:0024166",
          "ICD9:425.4",
          "MEDGEN:538845",
          "SCTID:35728003",
          "UMLS:C0264789",
          "icd11.foundation:1018022925"
        ],
        "synonyms": [
          "hereditary cardiomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "An instance of cardiomyopathy that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 18,
      "reference_id": "MONDO:0005217"
    },
    {
      "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": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    }
  ],
  "children": [
    {
      "id": 12555,
      "label": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080357",
          "GARD:0018570",
          "MEDGEN:1748867",
          "OMIM:604377",
          "UMLS:C5399977"
        ],
        "synonyms": [
          "SCO2 fatal infantile encephalocardiomyopathy",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1",
          "fatal infantile encephalocardiomyopathy caused by mutation in SCO2",
          "mitochondrial complex IV deficiency, nuclear type 2",
          "CEMCOX1",
          "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the SCO2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011451"
    },
    {
      "id": 15061,
      "label": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080358",
          "GARD:0018571",
          "MEDGEN:767448",
          "OMIM:615119",
          "UMLS:C3554534"
        ],
        "synonyms": [
          "COX15 fatal infantile encephalocardiomyopathy",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2",
          "fatal infantile encephalocardiomyopathy caused by mutation in COX15",
          "mitochondrial complex IV deficiency, nuclear type 6",
          "CEMCOX2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COX15 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014051"
    },
    {
      "id": 15662,
      "label": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080359",
          "GARD:0018572",
          "MEDGEN:903495",
          "OMIM:616500",
          "UMLS:C4225154"
        ],
        "synonyms": [
          "COA5 fatal infantile encephalocardiomyopathy",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3",
          "fatal infantile encephalocardiomyopathy caused by mutation in COA5",
          "mitochondrial complex IV, deficiency, nuclear type 9",
          "CEMCOX3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014667"
    },
    {
      "id": 15663,
      "label": "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080360",
          "GARD:0018573",
          "MEDGEN:905398",
          "OMIM:616501",
          "UMLS:C4225304"
        ],
        "synonyms": [
          "COA6 fatal infantile encephalocardiomyopathy",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4",
          "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4",
          "fatal infantile encephalocardiomyopathy caused by mutation in COA6",
          "mitochondrial complex IV deficiency, nuclear type 13",
          "CEMCOX4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Any fatal infantile encephalocardiomyopathy in which the cause of the disease is a mutation in the COA6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014668"
    }
  ],
  "roots": [
    {
      "id": 6933,
      "label": "familial cardiomyopathy"
    },
    {
      "id": 10856,
      "label": "inborn mitochondrial myopathy"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    }
  ]
}