{
  "id": 10040,
  "label": "ceroid lipofuscinosis, neuronal, 6B (Kufs type)",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008768",
  "properties": {
    "xrefs": [
      "DOID:0110730",
      "GARD:0006845",
      "MEDGEN:1794137",
      "OMIM:204300",
      "Orphanet:228340",
      "Orphanet:700477",
      "UMLS:C5561927"
    ],
    "synonyms": [
      "CLN4A",
      "CLN6 neuronal ceroid lipofuscinosis",
      "neuronal ceroid lipofuscinosis caused by mutation in CLN6",
      "neuronal ceroid lipofuscinosis type 4A",
      "CLN4A disease",
      "Kuf's disease type A",
      "Kuf's disease, autosomal recessive",
      "adult neuronal ceroid lipofuscinosis 4A",
      "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19108,
        21292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14503",
          "GARD:0010739",
          "ICD10CM:E75.4",
          "MEDGEN:10326",
          "NANDO:1200150",
          "NANDO:2200573",
          "NCIT:C61257",
          "OMIMPS:256730",
          "Orphanet:216",
          "SCTID:42012007",
          "UMLS:C0027877",
          "icd11.foundation:1568332253"
        ],
        "synonyms": [
          "NCL",
          "ceroid lipofuscinoses",
          "neuronal ceroid lipofuscinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of inherited progressive degenerative brain diseases characterized clinically by a decline of mental and other capacities, epilepsy, and vision loss through retinal degeneration, and histopathologically by intracellular accumulation of an autofluorescent material, ceroid lipofuscin, in the neuronal cells in the brain and in the retina."
      },
      "child_count": 28,
      "reference_id": "MONDO:0016295"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}