{
  "id": 12266,
  "label": "ceroid lipofuscinosis, neuronal, 6A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011144",
  "properties": {
    "xrefs": [
      "DOID:0110729",
      "GARD:0001224",
      "MEDGEN:1790423",
      "MESH:C566627",
      "OMIM:601780",
      "Orphanet:228363",
      "UMLS:C5551375"
    ],
    "synonyms": [
      "CLN6",
      "CLN6 late infantile neuronal ceroid lipofuscinosis",
      "CLN6A",
      "ceroid lipofuscinosis, neuronal, type 6",
      "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6",
      "neuronal ceroid lipofuscinosis type 6",
      "neuronal ceroid lipofuscinosis, late infantile, variant",
      "vLINCL",
      "CLN6 disease",
      "CLN6 disease, adult Kufs type A (subtype)",
      "CLN6 disease, late infantile (subtype)",
      "ceroid lipofuscinosis, neuronal, 6",
      "ceroid lipofuscinosis, neuronal, 6, variable age at onset",
      "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 16446,
      "label": "late infantile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017032",
          "MEDGEN:9589",
          "NANDO:1200153",
          "NANDO:2201242",
          "Orphanet:168491",
          "SCTID:14637005",
          "UMLS:C0022340",
          "icd11.foundation:1923920542"
        ],
        "synonyms": [
          "Jansky-Bielschowsky disease",
          "LINCL",
          "late infantile NCL",
          "late-infantile neuronal ceroid lipofuscinosis",
          "Bielschowsky-jansky disease",
          "Bielschowsky-jansky type neuronal ceroid lipofuscinosis",
          "amaurotic idiocy early juvenile type",
          "amaurotic idiocy late infantile type",
          "amaurotic idiocy, early juvenile type",
          "amaurotic idiocy, late infantile type",
          "dollinger-Bielschowsky syndrome",
          "dollinger-Bielschowsky type neuronal ceroid lipofuscinosis"
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset during infancy or early childhood with decline of mental and motor capacities, epilepsy, and vision loss through retinal degeneration."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015674"
    },
    {
      "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": 26310,
      "label": "late infantile neuronal ceroid lipofuscinosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12266
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700467"
        ],
        "synonyms": [
          "late infantile CLN6 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979367"
    },
    {
      "id": 26311,
      "label": "juvenile neuronal ceroid lipofuscinosis 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12266,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700472"
        ],
        "synonyms": [
          "juvenile CLN6 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979368"
    }
  ],
  "roots": [
    {
      "id": 16446,
      "label": "late infantile neuronal ceroid lipofuscinosis"
    },
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}