{
  "id": 14981,
  "label": "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013971",
  "properties": {
    "xrefs": [
      "DOID:0111493",
      "GARD:0013381",
      "MEDGEN:1645614",
      "OMIM:614924",
      "Orphanet:314051",
      "SCTID:763366000",
      "UMLS:C4706421"
    ],
    "synonyms": [
      "COXPD12",
      "EARS2 combined oxidative phosphorylation deficiency",
      "LTBL",
      "combined oxidative phosphorylation defect type 12",
      "combined oxidative phosphorylation deficiency caused by mutation in EARS2",
      "combined oxidative phosphorylation deficiency type 12",
      "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome",
      "combined oxidative phosphorylation deficiency 12",
      "leukoencephalopathy with thalamus and brainstem involvement and high lactate"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward."
  },
  "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": 18952,
      "label": "leukodystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050987",
          "DOID:0060786",
          "DOID:10579",
          "GARD:0006895",
          "ICD9:330.0",
          "MEDGEN:6070",
          "MedDRA:10024381",
          "NANDO:1200575",
          "NANDO:2200836",
          "NCIT:C61253",
          "NORD:1367",
          "OMIMPS:312080",
          "Orphanet:68356",
          "SCTID:192781003",
          "UMLS:C0023520",
          "icd11.foundation:468040251"
        ],
        "synonyms": [
          "hypomyelinating leukodystrophy",
          "hypomyelinating leukoencephalopathy",
          "leukodystrophy, hypomyelinating"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Leukodystrophies are a group of rare, progressive, metabolic, genetic diseases that affect the brain, spinal cord and often the peripheral nerves. Each type of leukodystrophy is caused by a specific gene abnormality that leads to abnormal development or destruction of the white matter (myelin sheath) of the brain. The myelin sheath is the protective covering of the nerve and nerves can't function normally without it. Each type of leukodystrophy affects a different part of the myelin sheath, leading to a range of neurological problems."
      },
      "child_count": 65,
      "reference_id": "MONDO:0019046"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3109,
      "label": "combined oxidative phosphorylation deficiency"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}