{
  "id": 10928,
  "label": "myotonia congenita, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009715",
  "properties": {
    "xrefs": [
      "GARD:0000844",
      "MEDGEN:155852",
      "NANDO:1200499",
      "OMIM:255700",
      "UMLS:C0751360"
    ],
    "synonyms": [
      "autosomal recessive myotonia congenita",
      "myotonia congenita, autosomal recessive",
      "myotonia congenita, recessive",
      "Becker disease",
      "myotonia, generalised",
      "myotonia, generalized"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Autosomal recessive form of myotonia congenita."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 10923,
      "label": "Thomsen and Becker disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19001
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2106",
          "GARD:0012301",
          "ICD10CM:G71.12",
          "ICD9:359.22",
          "MESH:D009224",
          "MedDRA:10028655",
          "MedDRA:10043461",
          "NANDO:1200497",
          "NANDO:1200498",
          "NCIT:C84912",
          "Orphanet:614",
          "SCTID:726051002"
        ],
        "synonyms": [
          "myotonia congenita",
          "Batten-Turner congenital myopathy",
          "myopathy, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic, skeletal muscle channelopathy characterized by slow muscle relaxation after contraction (myotonia)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009710"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 10923,
      "label": "Thomsen and Becker disease"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    }
  ]
}