{
  "id": 11370,
  "label": "familial isolated deficiency of vitamin E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010188",
  "properties": {
    "xrefs": [
      "DOID:0090028",
      "GARD:0008595",
      "ICD9:269.1",
      "ICD9:334.3",
      "MEDGEN:341248",
      "MESH:C535393",
      "MedDRA:10047631",
      "NANDO:1200050",
      "NORD:817",
      "OMIM:277460",
      "Orphanet:96",
      "SCTID:702442008",
      "UMLS:C1848533"
    ],
    "synonyms": [
      "AVED",
      "Ataxia with Vitamin E Deficiency",
      "Friedreich-like ataxia",
      "ataxia with isolated vitamin E deficiency",
      "familial isolated deficiency of vitamin type E",
      "familial isolated vitamin E deficiency",
      "isolated vitamin E deficiency",
      "Friedreich-like ataxia with selective vitamin E deficiency",
      "VED",
      "ataxia with vitamin E deficiency",
      "ataxia, Friedreich-like, with selective vitamin E deficiency",
      "vitamin E, familial isolated deficiency OF"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Ataxia with vitamin E deficiency (AVED) is a neurodegenerative disease belonging to the inherited cerebellar ataxias. It is mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7182,
      "label": "inborn vitamin metabolic disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        21331
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050718",
          "EFO:0005596",
          "GARD:0024204"
        ],
        "synonyms": [
          "inborn error of vitamin metabolic process",
          "inborn vitamin metabolic process disorder",
          "rare inborn error of vitamin metabolic process",
          "vitamin metabolic disorder"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of vitamin metabolic process."
      },
      "child_count": 10,
      "reference_id": "MONDO:0005528"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16133
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019413",
          "MEDGEN:1842756",
          "Orphanet:98096",
          "UMLS:C5681517"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0020044"
    },
    {
      "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": 7182,
      "label": "inborn vitamin metabolic disorder"
    },
    {
      "id": 19712,
      "label": "autosomal recessive metabolic cerebellar ataxia"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}