{
  "id": 26291,
  "label": "juvenile neuronal ceroid lipofuscinosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979341",
  "properties": {
    "xrefs": [
      "Orphanet:699739"
    ],
    "synonyms": [
      "juvenile 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": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050756",
          "GARD:0004938",
          "MedDRA:10052073",
          "NANDO:1200154",
          "NANDO:2201243",
          "Orphanet:79264",
          "SCTID:61663001",
          "icd11.foundation:1716107919"
        ],
        "synonyms": [
          "JNCL",
          "Spielmeyer-Vogt disease",
          "batten disease",
          "juvenile NCL",
          "juvenile neuronal ceroid lipofuscinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019262"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10955,
      "label": "neuronal ceroid lipofuscinosis 1"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis"
    }
  ]
}