{
  "id": 13465,
  "label": "neuronal ceroid lipofuscinosis 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012414",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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"
    }
  ],
  "children": [
    {
      "id": 26313,
      "label": "congenital neuronal ceroid lipofuscinosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        13465
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700487"
        ],
        "synonyms": [
          "congenital CLN10 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979371"
    },
    {
      "id": 26314,
      "label": "late infantile neuronal ceroid lipofuscinosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13465
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700492"
        ],
        "synonyms": [
          "late infantile CLN10 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979372"
    },
    {
      "id": 26315,
      "label": "juvenile neuronal ceroid lipofuscinosis 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        13465,
        19123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700497"
        ],
        "synonyms": [
          "juvenile CLN10 disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979373"
    }
  ],
  "roots": [
    {
      "id": 16851,
      "label": "neuronal ceroid lipofuscinosis"
    }
  ]
}