{
  "id": 26315,
  "label": "juvenile neuronal ceroid lipofuscinosis 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979373",
  "properties": {
    "xrefs": [
      "Orphanet:700497"
    ],
    "synonyms": [
      "juvenile CLN10 disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 13465,
      "label": "neuronal ceroid lipofuscinosis 10",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16851
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110725",
          "GARD:0001218",
          "MEDGEN:350481",
          "MESH:C566438",
          "OMIM:610127",
          "Orphanet:228337",
          "SCTID:720831008",
          "UMLS:C1864669"
        ],
        "synonyms": [
          "CLN10",
          "CLN10-NCL",
          "CTSD neuronal ceroid lipofuscinosis",
          "ceroid lipofuscinosis, neuronal, type 10",
          "neuronal ceroid lipofuscinosis caused by mutation in CTSD",
          "neuronal ceroid lipofuscinosis due to cathepsin D deficiency",
          "neuronal ceroid lipofuscinosis type 10",
          "CLN10 disease",
          "CLN10 disease, adult (subtype)",
          "CLN10 disease, congenital (subtype)",
          "CLN10 disease, juvenile (subtype)",
          "CLN10 disease, late infantile (subtype)",
          "ceroid lipofuscinosis neuronal Cathepsin D-deficient",
          "ceroid lipofuscinosis, neuronal, 10",
          "ceroid lipofuscinosis, neuronal, Cathepsin D-deficient",
          "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency",
          "neuronal ceroid lipofuscinosis, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare condition that affects the nervous system. Signs and symptoms of the condition can develop any time from birth to adulthood and may include progressive dementia, seizures, lack of muscle coordination, and vision loss. CLN10-NCL is caused by changes (mutations) in the CTSD 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": 3,
      "reference_id": "MONDO:0012414"
    },
    {
      "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": 13465,
      "label": "neuronal ceroid lipofuscinosis 10"
    },
    {
      "id": 19123,
      "label": "juvenile neuronal ceroid lipofuscinosis"
    }
  ]
}