{
  "id": 12727,
  "label": "amyotrophic lateral sclerosis type 21",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011632",
  "properties": {
    "xrefs": [
      "DOID:0060212",
      "GARD:0018619",
      "MEDGEN:813851",
      "NCIT:C168755",
      "OMIM:606070",
      "UMLS:C3807521"
    ],
    "synonyms": [
      "ALS21",
      "MATR3 amyotrophic lateral sclerosis",
      "amyotrophic lateral sclerosis caused by mutation in MATR3",
      "amyotrophic lateral sclerosis type 21",
      "amyotrophic lateral sclerosis 21",
      "myopathy, distal, 2",
      "myopathy, distal, 2, formerly",
      "vocal cord and pharyngeal dysfunction with distal myopathy",
      "vocal cord and pharyngeal dysfunction with distal myopathy, formerly"
    ],
    "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 MATR3 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"
    }
  ]
}