{
  "id": 26299,
  "label": "juvenile neuronal ceroid lipofuscinosis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979349",
  "properties": {
    "xrefs": [
      "Orphanet:699807"
    ],
    "synonyms": [
      "juvenile CLN5 disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10956,
      "label": "neuronal ceroid lipofuscinosis 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16446,
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110728",
          "GARD:0001223",
          "MEDGEN:376792",
          "MESH:C575534",
          "OMIM:256731",
          "Orphanet:228360",
          "UMLS:C1850442"
        ],
        "synonyms": [
          "CLN5",
          "CLN5 neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 5",
          "neuronal ceroid lipofuscinosis caused by mutation in CLN5",
          "neuronal ceroid lipofuscinosis type 5",
          "CLN5 disease",
          "CLN5 disease, adult",
          "CLN5 disease, juvenile",
          "CLN5 disease, late infantile (subtype)",
          "Finnish Vlincl",
          "ceroid lipofuscinosis, neuronal, 5",
          "ceroid lipofuscinosis, neuronal, 5, variable Age at onset",
          "neuronal ceroid lipofuscinosis Finnish variant",
          "neuronal ceroid lipofuscinosis, late infantile, Finnish variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neuronal ceroid lipofuscinosis 5 (CLN5-NCL) is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 4.5 and 7 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 cognitive/motor decline. It occurs predominantly in the Finnish population. CLN5-NCL is caused by changes (mutations) in the CLN5 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms."
      },
      "child_count": 6,
      "reference_id": "MONDO:0009745"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050756",
          "GARD:0004938",
          "MedDRA:10052073",
          "NANDO:1200154",
          "NANDO:2201243",
          "Orphanet:79264",
          "SCTID:61663001",
          "icd11.foundation:1716107919"
        ],
        "synonyms": [
          "JNCL",
          "Spielmeyer-Vogt disease",
          "batten disease",
          "juvenile NCL",
          "juvenile neuronal ceroid lipofuscinosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) typically characterized by onset at early school age with vision loss due to retinopathy, seizures and the decline of mental and motor capacities."
      },
      "child_count": 16,
      "reference_id": "MONDO:0019262"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10956,
      "label": "neuronal ceroid lipofuscinosis 5"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis"
    }
  ]
}