{
  "id": 10041,
  "label": "neuronal ceroid lipofuscinosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008769",
  "properties": {
    "xrefs": [
      "DOID:0110726",
      "GARD:0003045",
      "MEDGEN:406281",
      "NANDO:1200153",
      "NANDO:2201242",
      "NCIT:C85864",
      "OMIM:204500",
      "Orphanet:228349",
      "UMLS:C1876161"
    ],
    "synonyms": [
      "late infantile neuronal ceroid lipofuscinosis",
      "CLN2",
      "TPP1 neuronal ceroid lipofuscinosis",
      "ceroid lipofuscinosis, neuronal, type 2",
      "neuronal ceroid lipofuscinosis caused by mutation in TPP1",
      "neuronal ceroid lipofuscinosis type 2",
      "CLN2 disease",
      "CLN2 disease, juvenile (subtype)",
      "CLN2 disease, late infantile (subtype)",
      "Jansky-Bielschowsky disease",
      "ceroid lipofuscinosis, neuronal, 2",
      "ceroid lipofuscinosis, neuronal, 2, variable Age at onset",
      "neuronal ceroid lipofuscinosis, late infantile"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A condition associated with mutation(s) in the TPP1 gene, encoding tripeptidyl-peptidase- 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": 3,
  "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": 26293,
      "label": "infantile neuronal ceroid lipofuscinosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10041,
        19122
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699751"
        ],
        "synonyms": [
          "infantile CLN2 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979343"
    },
    {
      "id": 26294,
      "label": "late infantile neuronal ceroid lipofuscinosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10041
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699761"
        ],
        "synonyms": [
          "late infantile CLN2 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979344"
    },
    {
      "id": 26295,
      "label": "juvenile neuronal ceroid lipofuscinosis 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10041,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:699769"
        ],
        "synonyms": [
          "juvenile CLN2 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979345"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}