{
  "id": 13139,
  "label": "ribose-5-P isomerase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012073",
  "properties": {
    "xrefs": [
      "GARD:0017747",
      "ICD9:277.6",
      "MEDGEN:220946",
      "MESH:C563212",
      "OMIM:608611",
      "Orphanet:440706",
      "SCTID:124667004",
      "UMLS:C1291609"
    ],
    "synonyms": [
      "ribose 5-phosphate isomerase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Ribose-5-P isomerase deficiency is an extremely rare, hereditary, disorder of pentose phosphate metabolism characterized by progressive leukoencephalopathy and a highly increased ribitol and D-arabitol levels in the brain and body fluids. Clinical presentation includes psychomotor delay, epilepsy, and childhood-onset slow neurological regression with ataxia, spasticity, optic atrophy and sensorimotor neuropathy."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 19095,
      "label": "inborn disorder of pentose phosphate metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18607
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018962",
          "MEDGEN:1842861",
          "Orphanet:79186",
          "UMLS:C5681279",
          "icd11.foundation:2067324607"
        ],
        "synonyms": [
          "disorder of pentose phosphate metabolism"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0019231"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18952,
      "label": "leukodystrophy"
    },
    {
      "id": 19095,
      "label": "inborn disorder of pentose phosphate metabolism"
    }
  ]
}