{
  "id": 23870,
  "label": "SCN4A-related myopathy, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100121",
  "properties": {
    "xrefs": [
      "GARD:0026053"
    ],
    "synonyms": [
      "SCN4A-related myopathy, autosomal recessive",
      "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis",
      "congenital myopathy with severe fetal hypokinesia",
      "congenital myopathy with severe foetal hypokinesia",
      "myopathy with ptosis and mild dystrophic pattern"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080100",
          "DOID:0081337",
          "GARD:0005898",
          "MEDGEN:124381",
          "MedDRA:10062547",
          "NANDO:1200477",
          "NANDO:2100234",
          "OMIMPS:117000",
          "Orphanet:97245",
          "UMLS:C0270960",
          "icd11.foundation:1185572073"
        ],
        "synonyms": [
          "congenital myopathy",
          "Batten Turner congenital myopathy",
          "myopathy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    }
  ],
  "children": [
    {
      "id": 14645,
      "label": "congenital myasthenic syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809,
        23870
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110682",
          "GARD:0015771",
          "MEDGEN:481742",
          "OMIM:614198",
          "UMLS:C3280112"
        ],
        "synonyms": [
          "CMS16",
          "SCN4A congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in SCN4A",
          "congenital myasthenic syndrome type 16",
          "myasthenic syndrome, congenital, type 16",
          "myasthenic syndrome, congenital, 16",
          "myasthenic syndrome, congenital, Acetazolamide-responsive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013620"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    }
  ]
}