{
  "id": 26313,
  "label": "congenital neuronal ceroid lipofuscinosis 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0979371",
  "properties": {
    "xrefs": [
      "Orphanet:700487"
    ],
    "synonyms": [
      "congenital CLN10 disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 13465,
      "label": "neuronal ceroid lipofuscinosis 10"
    }
  ]
}