{
  "id": 14300,
  "label": "amyotrophic lateral sclerosis type 12",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013264",
  "properties": {
    "xrefs": [
      "DOID:0060203",
      "GARD:0015663",
      "MEDGEN:462042",
      "OMIM:613435",
      "UMLS:C3150692"
    ],
    "synonyms": [
      "ALS12",
      "OPTN amyotrophic lateral sclerosis",
      "amyotrophic lateral sclerosis 12",
      "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia",
      "amyotrophic lateral sclerosis caused by mutation in OPTN",
      "amyotrophic lateral sclerosis type 12"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any amyotrophic lateral sclerosis in which the cause of the disease is a mutation in the OPTN gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6718,
        21302
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0001356",
          "GARD:0024155",
          "MEDGEN:1642547",
          "OMIMPS:105400",
          "UMLS:C4551993"
        ],
        "synonyms": [
          "hereditary amyotrophic lateral sclerosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of amyotrophic lateral sclerosis that is caused by an inherited modification of the individual's genome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005144"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6868,
      "label": "familial amyotrophic lateral sclerosis"
    }
  ]
}