{
  "id": 15570,
  "label": "Lichtenstein-Knorr syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014572",
  "properties": {
    "xrefs": [
      "DOID:0080065",
      "GARD:0017780",
      "MEDGEN:898996",
      "OMIM:616291",
      "Orphanet:448251",
      "UMLS:C4225383"
    ],
    "synonyms": [
      "LIKNS",
      "Lichtenstein-Knorr syndrome",
      "SCAR19",
      "SLC9A1-related spinocerebellar ataxia syndrome",
      "autosomal recessive spinocerebellar ataxia type 19",
      "progressive autosomal recessive ataxia-sensorineural hearing loss syndrome",
      "spinocerebellar ataxia, autosomal recessive 19"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive spinocerebellar ataxia caused by disease-causing variants in the SLC9A1 gene, characterized by early-onset cerebellar ataxia, cognitive or developmental delay, seizure, and cerebellar atrophy. Patients may also present with varying degrees of nystagmus, oculomotor apraxia, amelogenesis imperfecta and sensorineural hearing loss."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        24046
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050950",
          "GARD:0018718",
          "MEDGEN:1843058",
          "OMIMPS:213200",
          "Orphanet:1172",
          "UMLS:C5575375"
        ],
        "synonyms": [
          "ARCA",
          "arca",
          "cerebellar ataxia, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both the central and peripheral nervous system (and in some cases other systems and organs), and characterized by degeneration or abnormal development of the cerebellum and spinal cord and, in most cases, early onset occurring before the age of 20 years."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015244"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16133,
      "label": "autosomal recessive cerebellar ataxia"
    }
  ]
}