{
  "id": 14213,
  "label": "congenital muscular dystrophy due to integrin alpha-7 deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013177",
  "properties": {
    "xrefs": [
      "DOID:0110639",
      "GARD:0012587",
      "MEDGEN:413044",
      "MESH:C567709",
      "OMIM:613204",
      "Orphanet:34520",
      "UMLS:C2750786"
    ],
    "synonyms": [
      "ITGA7 congenital muscular dystrophy",
      "congenital muscular dystrophy caused by mutation in ITGA7",
      "congenital muscular dystrophy with ITGA7 deficiency",
      "congenital muscular dystrophy with integrin alpha-7 deficiency",
      "muscular dystrophy, congenital, due to ITGA7 deficiency",
      "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency",
      "myopathy, congenital, due to integrin Alpha-7 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency."
  },
  "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"
    }
  ]
}