{
  "id": 15463,
  "label": "progressive encephalopathy with leukodystrophy due to DECR deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014464",
  "properties": {
    "xrefs": [
      "GARD:0010327",
      "MEDGEN:346552",
      "MESH:C565624",
      "OMIM:616034",
      "Orphanet:431361",
      "UMLS:C1857252"
    ],
    "synonyms": [
      "2,4-dienoyl-CoA reductase deficiency",
      "DECR deficiency with hyperlysinemia",
      "progressive encephalopathy with leukodystrophy due to DECR deficiency",
      "2,4-alpha dienoyl-CoA reductase deficiency",
      "DECRD",
      "dienoyl-CoA reductase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Progressive encephalopathy with leukodystrophy due to DECR deficiency is a rare mitochondrial disease, which presents with neonatal hypotonia, central nervous system abnormalities (ventriculomegaly, corpus callosum hypoplasia, cerebellar atrophy), acquired microcephaly, failure to thrive, developmental delay and intermittent lactic acidosis provoked by catabolic stress (e.g. infection). Hyperlysinemia and elevated C10:2 carnitine can be detected in plasma. Later on, epilepsy, cerebellar ataxia, renal tubular acidosis, severe encephalopathy, dystonia, spastic quadriplegia and other complications may develop."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    },
    {
      "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": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    },
    {
      "id": 18952,
      "label": "leukodystrophy"
    }
  ]
}