{
  "id": 14747,
  "label": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013726",
  "properties": {
    "xrefs": [
      "DOID:0070347",
      "GARD:0017509",
      "MEDGEN:482290",
      "OMIM:614388",
      "Orphanet:330050",
      "UMLS:C3280660"
    ],
    "synonyms": [
      "DNM1L-associated encephalopathy due to peroxisomal and mitochondrial fission defect",
      "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",
      "lethal encephalopathy due to mitochondrial and peroxisomal fission defect",
      "EMPF",
      "EMPF1",
      "encephalopathy due to defective mitochondrial and peroxisomal fission 1",
      "encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 23653,
      "label": "encephalopathy due to mitochondrial and peroxisomal fission defect",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        16918,
        24014,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022192",
          "MEDGEN:1814479",
          "OMIMPS:614388",
          "Orphanet:527276",
          "UMLS:C5681458"
        ],
        "synonyms": [
          "encephalopathy due to defective mitochondrial and peroxisomal fission",
          "encephalopathy due to mitochondrial and peroxisomal fission defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare mitochondrial disease characterized by a variable phenotype comprising delayed psychomotor development or neurodevelopmental regression, hypotonia, seizures, microcephaly, optic atrophy, pyramidal signs, and peripheral neuropathy, among others. Age of onset and disease severity are also variable with some cases taking a fatal course in early infancy. Serum lactate levels may be elevated. Reported brain imaging findings include abnormal signals in the basal ganglia, cerebral and/or cerebellar atrophy, and white matter abnormalities."
      },
      "child_count": 8,
      "reference_id": "MONDO:0054865"
    },
    {
      "id": 23939,
      "label": "Mendelian encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "An instance of encephalopathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 19,
      "reference_id": "MONDO:0100198"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 23653,
      "label": "encephalopathy due to mitochondrial and peroxisomal fission defect"
    },
    {
      "id": 23939,
      "label": "Mendelian encephalopathy"
    }
  ]
}