{
  "id": 12588,
  "label": "congenital muscular dystrophy 1B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011486",
  "properties": {
    "xrefs": [
      "DOID:0110634",
      "GARD:0012586",
      "MEDGEN:346746",
      "MESH:C565748",
      "OMIM:604801",
      "Orphanet:98893",
      "SCTID:764944006",
      "UMLS:C1858118"
    ],
    "synonyms": [
      "CMD1B",
      "MDC1B",
      "congenital muscular dystrophy type 1B",
      "muscular dystrophy, congenital, 1B"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Congenital muscular dystrophy type 1B is a rare, genetic neuromuscular disorder characterized by proximal and symmetrical muscle weakness (particularly of neck, sternomastoid, facial and diaphragm muscles), spinal rigidity, joint contractures (Achilles tendon, elbows, hands), generalized muscle hypertrophy and early respiratory failure (usually in the first decade of life). Patients typically present delayed motor milestones and grossly elevated serum creatine kinase levels, and with disease progression, forced expiratory abdominal squeeze and nocturnal hypoventilation."
  },
  "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    }
  ]
}