{
  "id": 13203,
  "label": "muscular dystrophy-dystroglycanopathy type B6",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012138",
  "properties": {
    "xrefs": [
      "DOID:0110637",
      "GARD:0024846",
      "MEDGEN:373284",
      "MESH:C563844",
      "OMIM:608840",
      "Orphanet:98894",
      "UMLS:C1837229"
    ],
    "synonyms": [
      "MDC1D",
      "MDDGB6",
      "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6",
      "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6",
      "muscular dystrophy, congenital, large-related",
      "muscular dystrophy, congenital, type 1D"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2757,
      "label": "muscular dystrophy-dystroglycanopathy, type B",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112375",
          "GARD:0012589",
          "OMIMPS:613155"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0000172"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2757,
      "label": "muscular dystrophy-dystroglycanopathy, type B"
    }
  ]
}