{
  "id": 19744,
  "label": "muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020121",
  "properties": {
    "xrefs": [
      "DOID:9884",
      "GARD:0007922",
      "ICD10CM:G71.0",
      "ICD9:359.1",
      "MEDGEN:44527",
      "MESH:D009136",
      "MedDRA:10028356",
      "NANDO:1200486",
      "NANDO:2100233",
      "NCIT:C84910",
      "Orphanet:98473",
      "SCTID:73297009",
      "UMLS:C0026850",
      "icd11.foundation:1464662404"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Muscular dystrophy (MD) refers to a group of more than 30 genetic diseases characterized by progressive weakness and degeneration of the skeletal muscles that control movement. Some forms of MD are seen in newborns, infants or children, while others have late-onset and may not appear until middle age or later. The disorders differ in terms of the distribution and extent of muscle weakness (some forms of MD also affect cardiac muscle), age of onset, rate of progression, and pattern of inheritance. The prognosis for people with MD varies according to the type and progression of the disorder. There is no specific treatment to stop or reverse any form of MD. Treatment is supportive and may include physical therapy, respiratory therapy, speech therapy, orthopedic appliances used for support, corrective orthopedic surgery, and medicationsincluding corticosteroids, anticonvulsants (seizure medications), immunosuppressants, and antibiotics. Some individuals may need assisted ventilation to treat respiratory muscle weaknessor a pacemaker for cardiac (heart)abnormalities."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 7023,
      "label": "myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:423",
          "EFO:0004145",
          "ICD9:359.8",
          "ICD9:359.9",
          "ICD9:728.3",
          "MEDGEN:10135",
          "NCIT:C101216",
          "SCTID:129565002",
          "UMLS:C0026848",
          "icd11.foundation:1870184184"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness."
      },
      "child_count": 32,
      "reference_id": "MONDO:0005336"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18957,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026275"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that is characterized by progressive muscle degeneration and weakness."
      },
      "child_count": 44,
      "reference_id": "MONDO:0100546"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        19743
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026375"
        ],
        "synonyms": [
          "genetic muscle disease",
          "genetic muscle disorder",
          "genetic muscular disease",
          "genetic muscular disorder",
          "hereditary muscle disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of muscle tissue disorder that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 66,
      "reference_id": "MONDO:0700223"
    }
  ],
  "children": [
    {
      "id": 9354,
      "label": "muscular dystrophy, Barnes type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024595",
          "MEDGEN:322468",
          "MESH:C563558",
          "OMIM:158800",
          "UMLS:C1834688"
        ],
        "synonyms": [
          "muscular dystrophy, Barnes type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008028"
    },
    {
      "id": 11820,
      "label": "muscular dystrophy, cardiac type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024745",
          "MEDGEN:254845",
          "MESH:C563247",
          "OMIM:309930",
          "UMLS:C1442927"
        ],
        "synonyms": [
          "muscular dystrophy, cardiac type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010675"
    },
    {
      "id": 11821,
      "label": "muscular dystrophy, Hemizygous lethal type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024746",
          "MEDGEN:326552",
          "MESH:C564097",
          "OMIM:309950",
          "UMLS:C1839671"
        ],
        "synonyms": [
          "muscular dystrophy, Hemizygous lethal type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010676"
    },
    {
      "id": 11822,
      "label": "muscular dystrophy, Mabry type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024747",
          "MEDGEN:326551",
          "MESH:C564096",
          "OMIM:310000",
          "UMLS:C1839670"
        ],
        "synonyms": [
          "muscular dystrophy, Mabry type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010677"
    },
    {
      "id": 11823,
      "label": "muscular dystrophy, progressive Pectorodorsal",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024748",
          "MEDGEN:326550",
          "MESH:C564095",
          "OMIM:310095",
          "UMLS:C1839669"
        ],
        "synonyms": [
          "muscular dystrophy, progressive Pectorodorsal",
          "muscular dystrophy, progressive, involving shoulder girdle and back"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010678"
    },
    {
      "id": 16732,
      "label": "progressive muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020360",
          "MEDGEN:1633060",
          "Orphanet:206644",
          "UMLS:C4551827"
        ],
        "synonyms": [
          "progressive muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 13,
      "reference_id": "MONDO:0016106"
    },
    {
      "id": 18871,
      "label": "distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11720",
          "GARD:0018699",
          "MEDGEN:155541",
          "NANDO:1200216",
          "NCIT:C84675",
          "OMIMPS:160500",
          "Orphanet:599",
          "SCTID:58795000",
          "UMLS:C0751336",
          "icd11.foundation:596283352"
        ],
        "synonyms": [
          "distal muscular dystrophy",
          "distal myopathy",
          "Miyoshi muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal myopathy refers to a group of muscle diseases which share the clinical pattern of predominant weakness and atrophy beginning in the feet and/or hands."
      },
      "child_count": 11,
      "reference_id": "MONDO:0018949"
    },
    {
      "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"
    },
    {
      "id": 21181,
      "label": "Fukuda-Miyanomae-Nakata syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002411",
          "Orphanet:2060"
        ],
        "synonyms": [
          "Cerebromuscular dystrophy, Fukuyama type",
          "FCMD",
          "Fukuyama type muscular dystrophy",
          "muscular dystrophy, congenital progressive, with intellectual disability",
          "muscular dystrophy, congenital progressive, with mental retardation",
          "muscular dystrophy, congenital, Fukuyama type",
          "muscular dystrophy, congenital, with central nervous system involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023204"
    },
    {
      "id": 23969,
      "label": "LAMA2-related muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026089",
          "MEDGEN:1826054",
          "UMLS:C5679788"
        ],
        "synonyms": [
          "LAMA2-related muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any muscular dystrophy in which the cause of the disease is a mutation in the LAMA2 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100228"
    },
    {
      "id": 24680,
      "label": "DMD-related muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027378"
        ],
        "synonyms": [
          "DMD-related musculodystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0700285"
    }
  ],
  "roots": [
    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 24271,
      "label": "hereditary neuromuscular disease"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}