{
  "id": 20182,
  "label": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020781",
  "properties": {
    "xrefs": [
      "GARD:0017991",
      "MEDGEN:934642",
      "OMIM:617186",
      "Orphanet:555407",
      "UMLS:C4310675"
    ],
    "synonyms": [
      "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy",
      "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy",
      "NAD(P)HX epimerase deficiency",
      "ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1",
      "PEBEL1"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 15939,
      "label": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        21292,
        23939
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009158",
          "GARD:0025040",
          "OMIMPS:617186"
        ],
        "synonyms": [
          "PEBEL",
          "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy",
          "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy; PEBEL",
          "encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy; PEBEL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0014960"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 15939,
      "label": "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy"
    }
  ]
}