{
  "id": 19121,
  "label": "adult neuronal ceroid lipofuscinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019260",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        19108,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10742",
          "GARD:0019491",
          "ICD9:330.1",
          "MEDGEN:1825994",
          "Orphanet:98544",
          "SCTID:16517004",
          "UMLS:C5681730"
        ],
        "synonyms": [
          "cerebral lipidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0020143"
    }
  ],
  "children": [
    {
      "id": 9403,
      "label": "ceroid lipofuscinosis, neuronal, 4 (Kufs type)",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19121
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008083"
    },
    {
      "id": 14878,
      "label": "neuronal ceroid lipofuscinosis 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19121
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110732",
          "GARD:0017426",
          "MEDGEN:761331",
          "OMIM:614706",
          "Orphanet:314629",
          "UMLS:C3539123"
        ],
        "synonyms": [
          "CLN11",
          "GRN neuronal ceroid lipofuscinosis",
          "Grn neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 11",
          "neuronal ceroid lipofuscinosis caused by mutation in GRN",
          "neuronal ceroid lipofuscinosis caused by mutation in Grn",
          "neuronal ceroid lipofuscinosis type 11",
          "CLN11 disease",
          "ceroid lipofuscinosis, neuronal, 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the GRN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013866"
    },
    {
      "id": 15154,
      "label": "neuronal ceroid lipofuscinosis 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19121
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110727",
          "GARD:0017527",
          "MEDGEN:811566",
          "OMIM:615362",
          "Orphanet:352709",
          "UMLS:C3715049"
        ],
        "synonyms": [
          "CLN13",
          "CTSF neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, 13 (Kufs type)",
          "ceroid lipofuscinosis, neuronal, type 13",
          "neuronal ceroid lipofuscinosis caused by mutation in CTSF",
          "neuronal ceroid lipofuscinosis type 13",
          "CLN13 disease",
          "ceroid lipofuscinosis, neuronal, 13",
          "ceroid lipofuscinosis, neuronal, 13, Kufs type"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any neuronal ceroid lipofuscinosis in which the cause of the disease is a mutation in the CTSF gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014147"
    },
    {
      "id": 26292,
      "label": "adult neuronal ceroid lipofuscinosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10955,
        19121
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699745"
        ],
        "synonyms": [
          "adult CLN1 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979342"
    },
    {
      "id": 26300,
      "label": "adult neuronal ceroid lipofuscinosis 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10956,
        19121
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699812"
        ],
        "synonyms": [
          "adult CLN5 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979350"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    }
  ]
}