{
  "id": 26300,
  "label": "adult neuronal ceroid lipofuscinosis 5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979350",
  "properties": {
    "xrefs": [
      "Orphanet:699812"
    ],
    "synonyms": [
      "adult 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": 19121,
      "label": "adult neuronal ceroid lipofuscinosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851,
        19753
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010973",
          "MEDGEN:7230",
          "NANDO:1200155",
          "NANDO:2201244",
          "NORD:1341",
          "Orphanet:79262",
          "SCTID:62009002",
          "UMLS:C0022797",
          "icd11.foundation:1460031344"
        ],
        "synonyms": [
          "ANCL",
          "Kufs disease",
          "adult NCL",
          "adult neuronal ceroid lipofuscinosis",
          "neuronal ceroid lipofuscinosis of adults",
          "CLN4 disease, adult autosomal dominant",
          "Kuf's disease",
          "neuronal ceroid lipofuscinosis 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019260"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10956,
      "label": "neuronal ceroid lipofuscinosis 5"
    },
    {
      "id": 19121,
      "label": "adult neuronal ceroid lipofuscinosis"
    }
  ]
}