{
  "id": 23653,
  "label": "encephalopathy due to mitochondrial and peroxisomal fission defect",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0054865",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "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"
    },
    {
      "id": 24014,
      "label": "disorder of defective peroxisomal and mitochondrial fission",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18955
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026118"
        ],
        "synonyms": [
          "disorder of defective peroxisomal and mitochondrial fission",
          "peroxisome and mitochronrial fission disease"
        ],
        "definition": "A disease that has its basis in the disruption of peroxisome and mitochondrial fission."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100276"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "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 characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 14747,
      "label": "encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23653,
        23939
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013726"
    },
    {
      "id": 15885,
      "label": "encephalopathy due to defective mitochondrial and peroxisomal fission 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23653,
        23939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060994",
          "GARD:0017881",
          "MEDGEN:934693",
          "OMIM:617086",
          "Orphanet:485421",
          "UMLS:C4310726"
        ],
        "synonyms": [
          "EMPF2",
          "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome",
          "MFF-associated encephalopathy due to peroxisomal and mitochondrial fission defect",
          "encephalopathy due to defective mitochondrial and peroxisomal fission 2",
          "encephalopathy due to defective mitochondrial and peroxisomal fission type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014905"
    }
  ],
  "roots": [
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 24014,
      "label": "disorder of defective peroxisomal and mitochondrial fission"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}