{
  "id": 10719,
  "label": "Richards-Rundle syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009493",
  "properties": {
    "xrefs": [
      "GARD:0008423",
      "MEDGEN:163219",
      "MESH:C535674",
      "OMIM:245100",
      "Orphanet:1399",
      "SCTID:715415005",
      "UMLS:C0796136",
      "icd11.foundation:114583632"
    ],
    "synonyms": [
      "Richards-Rundle syndrome",
      "ketoaciduria-intellectual disability-ataxia-deafness syndrome",
      "RICHARDS-RUNDLE syndrome",
      "RRNS",
      "ataxia-deafness-intellectual disability syndrome",
      "ataxia-deafness-mental retardation syndrome",
      "ataxia-deafness-retardation syndrome with ketoaciduria",
      "familial ataxia-hypogonadism syndrome",
      "ketoaciduria - intellectual disability - ataxia - deafness",
      "ketoaciduria-mental deficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Richards-Rundle syndrome is an extremely rare neurodegenerative disorder characterized by progressive spinocerebellar ataxia, sensorineural hearing loss, and hypergonadotropic hypogonadism associated with additional neurological manifestations (such as peripheral muscle wasting, nystagmus, intellectual disability or dementia) and ketoaciduria."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 24045,
      "label": "hereditary ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24044,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050951",
          "EFO:0009671",
          "GARD:0020286",
          "ICD10CM:G11",
          "ICD10WHO:G11",
          "MEDGEN:2478",
          "MESH:C531684",
          "Orphanet:183518",
          "SCTID:763597000",
          "UMLS:C0004138",
          "icd11.foundation:442347652"
        ],
        "synonyms": [
          "rare hereditary ataxia",
          "SCA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of an atactic disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 40,
      "reference_id": "MONDO:0100309"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 24045,
      "label": "hereditary ataxia"
    }
  ]
}