{
  "id": 18393,
  "label": "muscular dystrophy-dystroglycanopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018276",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050557",
          "GARD:0009138",
          "ICD9:359.0",
          "MEDGEN:147063",
          "Orphanet:97242",
          "SCTID:240059009",
          "UMLS:C0699743",
          "icd11.foundation:396687076"
        ],
        "synonyms": [
          "CMD",
          "MDC",
          "congenital MD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted."
      },
      "child_count": 46,
      "reference_id": "MONDO:0019950"
    }
  ],
  "children": [
    {
      "id": 2756,
      "label": "muscular dystrophy-dystroglycanopathy, type A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050560",
          "GARD:0002599",
          "MEDGEN:75553",
          "MESH:D058494",
          "NCIT:C99109",
          "OMIMPS:236670",
          "Orphanet:899",
          "SCTID:111504002",
          "UMLS:C0265221"
        ],
        "synonyms": [
          "WWS",
          "Walker-Warburg muscular dystrophy",
          "Walker-Warburg syndrome",
          "hard syndrome",
          "hydrocephalus-agyria-retinal dysplasia syndrome",
          "Chemke syndrome",
          "Pagon syndrome",
          "Warburg syndrome",
          "cerebroocular dysgenesis",
          "cerebroocular dysplasia muscular dystrophy syndrome",
          "hard +/- E syndrome",
          "hydrocephalus, agyria and retinal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0000171"
    },
    {
      "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": 2758,
      "label": "muscular dystrophy-dystroglycanopathy, type C",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022722",
          "OMIMPS:609308"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0000173"
    },
    {
      "id": 14087,
      "label": "DPM3-congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7156,
        17978,
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012395",
          "MEDGEN:414534",
          "MESH:C567857",
          "OMIM:612937",
          "Orphanet:263494",
          "SCTID:725044000",
          "UMLS:C2752007"
        ],
        "synonyms": [
          "CDG syndrome type Io",
          "CDG-Io",
          "CDG1O",
          "DPM3-CDG",
          "DPM3-congenital disorder of glycosylation",
          "carbohydrate deficient glycoprotein syndrome type Io",
          "congenital disorder of glycosylation type 1o",
          "congenital disorder of glycosylation type Io",
          "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15",
          "CDG Io",
          "CDGIo",
          "Cdg1(Dpm3)",
          "DG1O",
          "DPM3-CDG (CDG-Io)",
          "congenital disorder of glycosylation, type Io"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "DPM3-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case by muscle weakness, waddling gait and dilated cardiomyopathy."
      },
      "child_count": 3,
      "reference_id": "MONDO:0013049"
    },
    {
      "id": 15033,
      "label": "congenital muscular dystrophy with intellectual disability and severe epilepsy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7156,
        17978,
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080571",
          "GARD:0012416",
          "MEDGEN:1682844",
          "OMIM:615042",
          "Orphanet:329178",
          "UMLS:C5190603"
        ],
        "synonyms": [
          "CDG syndrome type Iu",
          "CDG-Iu",
          "CDG1U",
          "CMD with intellectual disability and severe epilepsy",
          "DPM2-CDG",
          "carbohydrate deficient glycoprotein syndrome type Iu",
          "congenital disorder of glycosylation type 1u",
          "congenital disorder of glycosylation type Iu",
          "CDG Iu",
          "congenital disorder of glycosylation, type Iu"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014023"
    },
    {
      "id": 18394,
      "label": "congenital muscular dystrophy with intellectual disability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16168,
        18393
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017606",
          "MEDGEN:1683413",
          "Orphanet:370968",
          "UMLS:C5190846"
        ],
        "synonyms": [
          "CMD with intellectual disability",
          "CMD-MR"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018278"
    },
    {
      "id": 18395,
      "label": "muscle-eye-brain disease with bilateral multicystic leucodystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18393,
        18801
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017608",
          "MEDGEN:1675257",
          "Orphanet:370997",
          "UMLS:C5191414"
        ],
        "synonyms": [
          "MEB disease with bilateral multicystic leucodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Muscle-eye-brain (MEB) disease with bilateral multicystic leucodystrophy is a form of congenital muscular alpha-dystroglycanopathy with brain and eye anomaly characterized by severe muscle-eye-brain disease-like phenotype associated with macrocephaly and extended bilateral multicystic white matter disease, overlapping with the cerebral findings in patients with megalencephalic leukoencephalopathy with subcortical cysts."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018280"
    }
  ],
  "roots": [
    {
      "id": 19667,
      "label": "congenital muscular dystrophy"
    }
  ]
}