{
  "id": 26292,
  "label": "adult neuronal ceroid lipofuscinosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979342",
  "properties": {
    "xrefs": [
      "Orphanet:699745"
    ],
    "synonyms": [
      "adult CLN1 disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10955,
      "label": "neuronal ceroid lipofuscinosis 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110721",
          "GARD:0001219",
          "MEDGEN:340540",
          "NANDO:1200152",
          "NANDO:2201241",
          "NCIT:C85861",
          "OMIM:214200",
          "OMIM:256730",
          "Orphanet:228329",
          "SCTID:720830009",
          "UMLS:C1850451"
        ],
        "synonyms": [
          "CLN1",
          "CLN1 disease",
          "CLN1 variable age at onset",
          "PPT1 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis neuronal 1",
          "ceroid lipofuscinosis, neuronal, 1",
          "ceroid lipofuscinosis, neuronal, 1, variable Age at onset",
          "ceroid lipofuscinosis, neuronal, type 1",
          "ceroid storage disease",
          "neuronal ceroid lipofuscinosis 1",
          "neuronal ceroid lipofuscinosis caused by mutation in PPT1",
          "neuronal ceroid lipofuscinosis type 1",
          "Santavuori disease",
          "Santavuori-Haltia disease",
          "adult CLN (type of CLN1)",
          "classic late infantile CLN (type of CLN1)",
          "infantile CLN (type of CLN1)",
          "infantile neuronal ceroid lipofuscinosis",
          "juvenile CLN (type of CLN1)",
          "neuronal ceroid lipofuscinosis, infantile",
          "congenital NCL",
          "congenital neuronal ceroid lipofuscinosis",
          "lipofuscin storage disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments."
      },
      "child_count": 4,
      "reference_id": "MONDO:0009744"
    },
    {
      "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": 10955,
      "label": "neuronal ceroid lipofuscinosis 1"
    },
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis"
    }
  ]
}