{
  "id": 19122,
  "label": "infantile neuronal ceroid lipofuscinosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019261",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        19108,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10742",
          "GARD:0019491",
          "ICD9:330.1",
          "MEDGEN:1825994",
          "Orphanet:98544",
          "SCTID:16517004",
          "UMLS:C5681730"
        ],
        "synonyms": [
          "cerebral lipidosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0020143"
    }
  ],
  "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": 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"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    },
    {
      "id": 19753,
      "label": "cerebral lipidosis with dementia"
    }
  ]
}