{
  "id": 26293,
  "label": "infantile neuronal ceroid lipofuscinosis 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979343",
  "properties": {
    "xrefs": [
      "Orphanet:699751"
    ],
    "synonyms": [
      "infantile CLN2 disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10041,
      "label": "neuronal ceroid lipofuscinosis 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 3,
      "reference_id": "MONDO:0008769"
    },
    {
      "id": 19122,
      "label": "infantile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009447",
          "MEDGEN:75666",
          "NANDO:1200152",
          "NANDO:2201241",
          "NORD:1689",
          "Orphanet:79263",
          "SCTID:58258004",
          "UMLS:C0268281",
          "icd11.foundation:797123687"
        ],
        "synonyms": [
          "Classic Infantile CLN1 Disease",
          "Hagberg-Santavuori disease",
          "INCL",
          "Santavuori disease",
          "Santavuori-Haltia disease",
          "infantile NCL"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A form of neuronal ceroid lipofuscinosis (NCL) characterized by onset during the second half of the first year of life and rapid mental and motor deterioration leading to loss of all psychomotor abilities."
      },
      "child_count": 4,
      "reference_id": "MONDO:0019261"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10041,
      "label": "neuronal ceroid lipofuscinosis 2"
    },
    {
      "id": 19122,
      "label": "infantile neuronal ceroid lipofuscinosis"
    }
  ]
}