{
  "id": 8952,
  "label": "spinocerebellar ataxia type 34",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007574",
  "properties": {
    "xrefs": [
      "DOID:0050981",
      "GARD:0000059",
      "MEDGEN:338703",
      "MESH:C535738",
      "NORD:1105",
      "OMIM:133190",
      "Orphanet:1955",
      "SCTID:719255000",
      "UMLS:C1851481"
    ],
    "synonyms": [
      "Erythrokeratodermia with Ataxia",
      "SCA34",
      "erythrokeratodermia with ataxia",
      "spinocerebellar ataxia and erythrokeratodermia",
      "spinocerebellar ataxia type 34",
      "Giroux Barbeau syndrome",
      "erythrokeratodermia - ataxia",
      "spinocerebellar ataxia 34"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A subtype of autosomal dominant cerebellar ataxia type I (ADCA type I), characterized by papulosquamous, ichthyosiform plaques on the limbs appearing shortly after birth and later manifestations including progressive ataxia, dysarthria, nystagmus and decreased reflexes."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19131,
      "label": "erythrokeratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19129
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018986",
          "ICD9:757.39",
          "MEDGEN:609461",
          "MedDRA:10015280",
          "Orphanet:79355",
          "SCTID:254215005",
          "UMLS:C0432330"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An umbrella term for a group of rare genetic skin disorders characterized by well-demarcated plaques of reddened, dry and thickened skin. Typically, these lesions are distributed symmetrically on the body and tend to slowly expand and progress over time."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019270"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019252",
          "MEDGEN:1842696",
          "Orphanet:94145",
          "UMLS:C5680259"
        ],
        "synonyms": [
          "ADCA1",
          "ADCAI",
          "autosomal dominant cerebellar ataxia type 1",
          "cerebellar plus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant cerebellar ataxia (ADCA) type I is a group of spinocerebellar ataxias (SCAs) characterized by ataxia with other neurological signs, including oculomotor disturbances, cognitive deficits, pyramidal and extrapyramidal dysfunction, bulbar, spinal and peripheral nervous system involvement."
      },
      "child_count": 30,
      "reference_id": "MONDO:0019792"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19131,
      "label": "erythrokeratoderma"
    },
    {
      "id": 19535,
      "label": "autosomal dominant cerebellar ataxia type I"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}