{
  "id": 10904,
  "label": "congenital myasthenic syndrome 10",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009690",
  "properties": {
    "xrefs": [
      "DOID:0110638",
      "DOID:0110668",
      "GARD:0015206",
      "ICD9:358.00",
      "MEDGEN:376880",
      "MESH:C563716",
      "OMIM:254300",
      "OMIM:609456",
      "SCTID:230687001",
      "UMLS:C1850792"
    ],
    "synonyms": [
      "CMS10",
      "DOK7 congenital myasthenic syndrome",
      "congenital muscular dystrophy merosin-positive",
      "congenital myasthenic syndrome 10",
      "congenital myasthenic syndrome caused by mutation in DOK7",
      "congenital myasthenic syndrome type 10",
      "myasthenic syndrome, congenital, type 10",
      "CMS Ib",
      "CMS1B",
      "Cms Ib",
      "Cms Ib, formerly",
      "congenital myasthenic syndrome type IB",
      "congenital myasthenic syndrome type IB, formerly",
      "muscular dystrophy, congenital, merosin-POSITIVE",
      "myasthenia, limb-girdle, familial",
      "myasthenia, limb-girdle, familial, formerly",
      "myasthenic myopathy",
      "myasthenic myopathy, formerly",
      "myasthenic syndrome, congenital, 10"
    ],
    "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 DOK7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    },
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015022",
          "MEDGEN:199758",
          "Orphanet:98913",
          "UMLS:C0751883"
        ],
        "synonyms": [
          "postsynaptic congenital myasthenic syndromes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0020344"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    },
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome"
    }
  ]
}