{
  "id": 2757,
  "label": "muscular dystrophy-dystroglycanopathy, type B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000172",
  "properties": {
    "xrefs": [
      "DOID:0112375",
      "GARD:0012589",
      "OMIMPS:613155"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112374",
          "GARD:0012584",
          "MEDGEN:1842215",
          "Orphanet:370953",
          "UMLS:C5679911"
        ],
        "synonyms": [
          "CMD due to dystroglycanopathy",
          "muscular dystrophy-dystroglycanopathy",
          "congenital muscular dystrophy due to dystroglycanopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0018276"
    }
  ],
  "children": [
    {
      "id": 12778,
      "label": "muscular dystrophy-dystroglycanopathy type B5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24462
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011688"
    },
    {
      "id": 13203,
      "label": "muscular dystrophy-dystroglycanopathy type B6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012138"
    },
    {
      "id": 14191,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24464
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013155"
    },
    {
      "id": 14192,
      "label": "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112379",
          "GARD:0018456",
          "MEDGEN:413465",
          "OMIM:613152",
          "UMLS:C2751052"
        ],
        "synonyms": [
          "congenital muscular dystrophy-FKTN related",
          "MDDGB4",
          "muscular dystrophy, congenital, Fktn-related",
          "muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B, 4",
          "muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013156"
    },
    {
      "id": 14195,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24466
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050588",
          "GARD:0024904",
          "MEDGEN:1774807",
          "OMIM:613155",
          "UMLS:C5436962"
        ],
        "synonyms": [
          "congenital muscular dystrophy-POMT1 related",
          "MDDGB1",
          "muscular dystrophy, congenital, Pomt1-related",
          "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1",
          "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013159"
    },
    {
      "id": 14196,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24467
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013160"
    },
    {
      "id": 15148,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        24480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112377",
          "GARD:0024976",
          "MEDGEN:815551",
          "OMIM:615351",
          "UMLS:C3809221"
        ],
        "synonyms": [
          "congenital muscular dystrophy-GMPPB related",
          "MDDGB14",
          "muscular dystrophy, congenital, GMPPB-related",
          "muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 14",
          "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014141"
    },
    {
      "id": 22682,
      "label": "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2757,
        14087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112376",
          "GARD:0025809",
          "MEDGEN:1755743",
          "OMIM:618992",
          "UMLS:C5436552"
        ],
        "synonyms": [
          "MDDGB15",
          "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 15",
          "muscular dystrophy, congenital, DPM3-related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033556"
    }
  ],
  "roots": [
    {
      "id": 18393,
      "label": "muscular dystrophy-dystroglycanopathy"
    }
  ]
}