{
  "id": 14191,
  "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013155",
  "properties": {
    "xrefs": [
      "DOID:0112378",
      "GARD:0018455",
      "MEDGEN:461762",
      "OMIM:613151",
      "UMLS:C3150412"
    ],
    "synonyms": [
      "congenital muscular dystrophy-POMGNT1 related",
      "MDDGB3",
      "muscular dystrophy, congenital, POMGNT1-related",
      "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3",
      "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "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": 24464,
      "label": "myopathy caused by variation in POMGNT1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        7023,
        17974,
        24270,
        24618
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026341"
        ],
        "synonyms": [
          "POMGNT1 myopathy",
          "POMGNT1-related myopathy",
          "myopathy caused by mutation in POMGNT1"
        ],
        "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 POMGNT1 gene."
      },
      "child_count": 15,
      "reference_id": "MONDO:0700068"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2757,
      "label": "muscular dystrophy-dystroglycanopathy, type B"
    },
    {
      "id": 24464,
      "label": "myopathy caused by variation in POMGNT1"
    }
  ]
}