{
  "id": 12778,
  "label": "muscular dystrophy-dystroglycanopathy type B5",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011688",
  "properties": {
    "xrefs": [
      "DOID:0110635",
      "GARD:0024818",
      "MEDGEN:335764",
      "MESH:C564691",
      "OMIM:606612",
      "Orphanet:52428",
      "UMLS:C1847759"
    ],
    "synonyms": [
      "MDC1C",
      "MDDGB5",
      "congenital muscular dystrophy-FKRP related",
      "muscular dystrophy-dystroglycanopathy (congenital with or without intellectual disability), type B, 5",
      "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5",
      "muscular dystrophy, congenital, 1C",
      "muscular dystrophy, congenital, FKRP-related"
    ],
    "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 variable penetrance of intellectual disability and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3."
  },
  "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"
    },
    {
      "id": 24462,
      "label": "myopathy caused by variation in FKRP",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        17974,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026339"
        ],
        "synonyms": [
          "FKRP myopathy",
          "FKRP-related myopathy",
          "myopathy caused by mutation in FKRP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the FKRP gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700066"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2757,
      "label": "muscular dystrophy-dystroglycanopathy, type B"
    },
    {
      "id": 24462,
      "label": "myopathy caused by variation in FKRP"
    }
  ]
}