{
  "id": 10955,
  "label": "neuronal ceroid lipofuscinosis 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009744",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": [
    {
      "id": 26289,
      "label": "infantile neuronal ceroid lipofuscinosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10955,
        19122
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699718"
        ],
        "synonyms": [
          "infantile CLN1 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979339"
    },
    {
      "id": 26290,
      "label": "late infantile neuronal ceroid lipofuscinosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10955
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699734"
        ],
        "synonyms": [
          "late infantile CLN1 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979340"
    },
    {
      "id": 26291,
      "label": "juvenile neuronal ceroid lipofuscinosis 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10955,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699739"
        ],
        "synonyms": [
          "juvenile CLN1 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979341"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}