{
  "id": 9403,
  "label": "ceroid lipofuscinosis, neuronal, 4 (Kufs type)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008083",
  "properties": {
    "xrefs": [
      "DOID:0110720",
      "GARD:0001222",
      "MEDGEN:320287",
      "NCIT:C128116",
      "OMIM:162350",
      "Orphanet:228343",
      "UMLS:C1834207"
    ],
    "synonyms": [
      "CLN4",
      "autosomal dominant Kufs disease",
      "ceroid lipofuscinosis, neuronal, 4 (Kufs type)",
      "ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominant",
      "neuronal ceroid lipofuscinosis type 4B",
      "neuronal ceroid lipofuscinosis, parry type",
      "CLN4B",
      "Kuf's disease type B",
      "Kuf's disease, autosomal dominant",
      "Kufs disease, autosomal dominant",
      "adult neuronal ceroid lipofuscinosis 4B",
      "ceroid lipofuscinosis, neuronal, 4B, autosomal dominant",
      "ceroid lipofuscinosis, neuronal, parry type"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A condition associated with mutation(s) in the DNAJC5 gene, encoding dnaJ homolog subfamily C member 5. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010973",
          "MEDGEN:7230",
          "NANDO:1200155",
          "NANDO:2201244",
          "NORD:1341",
          "Orphanet:79262",
          "SCTID:62009002",
          "UMLS:C0022797",
          "icd11.foundation:1460031344"
        ],
        "synonyms": [
          "ANCL",
          "Kufs disease",
          "adult NCL",
          "adult neuronal ceroid lipofuscinosis",
          "neuronal ceroid lipofuscinosis of adults",
          "CLN4 disease, adult autosomal dominant",
          "Kuf's disease",
          "neuronal ceroid lipofuscinosis 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019260"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis"
    }
  ]
}