{
  "id": 12366,
  "label": "megaconial type congenital muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011246",
  "properties": {
    "xrefs": [
      "DOID:0110632",
      "GARD:0010317",
      "MEDGEN:355943",
      "MESH:C566527",
      "OMIM:602541",
      "Orphanet:280671",
      "UMLS:C1865233"
    ],
    "synonyms": [
      "congenital megaconial myopathy",
      "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect",
      "congenital muscular dystrophy with mitochondrial structural abnormalities",
      "megaconial congenital muscular dystrophy",
      "megaconial type congenital muscular dystrophy",
      "MDCMC",
      "megaconial congénital muscular dystrophy",
      "muscular dystrophy, congenital, megaconial type",
      "muscular dystrophy, congenital, with mitochondrial structural abnormalities"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021516",
          "MEDGEN:1843236",
          "Orphanet:352301",
          "UMLS:C5680990"
        ]
      },
      "child_count": 17,
      "reference_id": "MONDO:0018117"
    },
    {
      "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": 18270,
      "label": "disorder of phospholipids, sphingolipids and fatty acids biosynthesis"
    },
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    }
  ]
}