{
  "id": 14415,
  "label": "progressive demyelinating neuropathy with bilateral striatal necrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013382",
  "properties": {
    "xrefs": [
      "GARD:0017123",
      "MEDGEN:462323",
      "OMIM:613710",
      "Orphanet:217396",
      "UMLS:C3150973"
    ],
    "synonyms": [
      "thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)",
      "THMD4",
      "bilateral striatal Degeneration and progressive polyneuropathy",
      "progressive polyneuropathy with bilateral striatal necrosis",
      "striatal Necrosis, bilateral, and progressive polyneuropathy",
      "thiamine metabolism dysfunction syndrome 4 (bilateral striatal degeneration and progressive polyneuropathy type)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17859
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022716",
          "OMIMPS:249270"
        ],
        "synonyms": [
          "thiamine-responsive dysfunction syndrome"
        ],
        "definition": "A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance."
      },
      "child_count": 5,
      "reference_id": "MONDO:0000152"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}