{
  "id": 14196,
  "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013160",
  "properties": {
    "xrefs": [
      "DOID:0112380",
      "GARD:0024905",
      "MEDGEN:461766",
      "NCIT:C126690",
      "OMIM:613156",
      "UMLS:C3150416"
    ],
    "synonyms": [
      "congenital muscular dystrophy-POMT2 related",
      "congenital muscular dystrophy-dystroglycanopathy with intellectual disability type B2",
      "congenital muscular dystrophy-dystroglycanopathy with mental retardation type B2",
      "MDDGB2",
      "muscular dystrophy, congenital, Pomt2-related",
      "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 2",
      "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan."
  },
  "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": 24467,
      "label": "myopathy caused by variation in POMT2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16755,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026344"
        ],
        "synonyms": [
          "POMT2 myopathy",
          "POMT2-related myopathy",
          "myopathy caused by mutation in POMT2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any myopathy in which the cause of the disease is a variation in the POMT2 gene."
      },
      "child_count": 9,
      "reference_id": "MONDO:0700071"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2757,
      "label": "muscular dystrophy-dystroglycanopathy, type B"
    },
    {
      "id": 24467,
      "label": "myopathy caused by variation in POMT2"
    }
  ]
}