{
  "id": 16732,
  "label": "progressive muscular dystrophy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016106",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 13,
  "parents": [
    {
      "id": 19744,
      "label": "muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24271,
        24618
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 33,
      "reference_id": "MONDO:0020121"
    }
  ],
  "children": [
    {
      "id": 3573,
      "label": "facioscapulohumeral muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11727",
          "GARD:0009941",
          "ICD10CM:G71.02",
          "MEDGEN:65956",
          "MESH:D020391",
          "MedDRA:10064087",
          "NANDO:1200491",
          "NANDO:2200859",
          "NCIT:C84704",
          "NORD:1116",
          "OMIMPS:158900",
          "Orphanet:269",
          "SCTID:399091004",
          "UMLS:C0238288",
          "icd11.foundation:621965073"
        ],
        "synonyms": [
          "FSH dystrophy",
          "FSHD",
          "facioscapulohumeral dystrophy",
          "facioscapulohumeral muscular dystrophy",
          "facioscapulohumeral myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal dominant disorder affecting the skeletal muscles of the face, scapula, and upper arm. Patients present with muscle weakness in these anatomic areas. The muscle weakness eventually spreads to other skeletal muscles as well."
      },
      "child_count": 5,
      "reference_id": "MONDO:0001347"
    },
    {
      "id": 8980,
      "label": "congenital fibrosis of extraocular muscles",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3785,
        6517,
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080143",
          "GARD:0012590",
          "ICD9:728.2",
          "MEDGEN:724506",
          "MESH:C580012",
          "NORD:997",
          "OMIMPS:135700",
          "Orphanet:45358",
          "SCTID:400946004",
          "UMLS:C1302995",
          "icd11.foundation:887449084"
        ],
        "synonyms": [
          "Congenital Fibrosis of the Extraocular Muscles",
          "FEOM",
          "congenital fibrosis of the extraocular muscles",
          "fibrosis of extraocular muscles, congenital",
          "fibrosis of extraocular muscles, congenital, type 1",
          "Tukel syndrome",
          "CFEOM1",
          "Feom1 locus",
          "blepharoptosis with absent eye movements",
          "fibrosis of extraocular muscles, congenital, 1",
          "fibrosis of extraocular muscles, congenital, 3B",
          "ophthalmoplegia, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0007614"
    },
    {
      "id": 9355,
      "label": "Bethlem myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        19667,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050663",
          "GARD:0000873",
          "MEDGEN:331805",
          "MESH:C535436",
          "NANDO:1200220",
          "NCIT:C126688",
          "OMIMPS:158810",
          "Orphanet:610",
          "SCTID:718572004",
          "UMLS:C1834674",
          "icd11.foundation:72734329"
        ],
        "synonyms": [
          "Bethlem myopathy type 1",
          "benign autosomal dominant myopathy",
          "BTHLM1",
          "Bethlem myopathy 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A usually autosomal dominant inherited movement disorder caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. It is characterized by progressive muscle weakness and joint stiffness in the fingers, wrists, elbows, and ankles."
      },
      "child_count": 12,
      "reference_id": "MONDO:0008029"
    },
    {
      "id": 9432,
      "label": "oculopharyngeal muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6517,
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11719",
          "GARD:0007245",
          "MEDGEN:75730",
          "MESH:D039141",
          "MedDRA:10052181",
          "NANDO:1200493",
          "NORD:1523",
          "OMIMPS:164300",
          "Orphanet:270",
          "SCTID:77097004",
          "UMLS:C0270952",
          "icd11.foundation:1354386293"
        ],
        "synonyms": [
          "OPMD",
          "oculopharyngeal muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness."
      },
      "child_count": 4,
      "reference_id": "MONDO:0008116"
    },
    {
      "id": 11828,
      "label": "X-linked myopathy with excessive autophagy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16735
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050760",
          "GARD:0003892",
          "MEDGEN:374264",
          "MESH:C536522",
          "NANDO:1200223",
          "NORD:1866",
          "OMIM:310440",
          "Orphanet:25980",
          "SCTID:719815005",
          "UMLS:C1839615"
        ],
        "synonyms": [
          "XMEA",
          "myopathy, X-linked, with excessive autophagy, X-linked recessive",
          "vacuolar myopathy",
          "MEAX",
          "myopathy, X-linked, with excessive autophagy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterized by slow progression of muscle weakness and unique histopathological findings."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010684"
    },
    {
      "id": 12472,
      "label": "myopathy, myofibrillar, 9, with early respiratory failure",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732,
        16734,
        16735,
        24220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111188",
          "GARD:0012591",
          "MEDGEN:350930",
          "MESH:C564377",
          "MESH:C566343",
          "OMIM:603689",
          "OMIM:607569",
          "Orphanet:178464",
          "Orphanet:34521",
          "SCTID:702373006",
          "SCTID:733490006",
          "UMLS:C1863599"
        ],
        "synonyms": [
          "ADMERF",
          "Edstrom myopathy",
          "Edström myopathy",
          "HIBM-ERF",
          "HMERF",
          "HMERF-ERF",
          "distal myopathy with early respiratory muscle involvement",
          "hereditary inclusion body myopathy with early respiratory failure",
          "hereditary proximal myopathy with early respiratory failure",
          "myofibrillar myopathy with early respiratory failure",
          "myopathy, distal, with early respiratory failure, autosomal dominant",
          "myopathy, proximal, with early respiratory muscle involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011362"
    },
    {
      "id": 15788,
      "label": "progressive scapulohumeroperoneal distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732,
        23836
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017779",
          "MEDGEN:905125",
          "OMIM:616852",
          "Orphanet:447977",
          "UMLS:C4225181"
        ],
        "synonyms": [
          "myopathy, scapulohumeroperoneal",
          "SHPM"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014800"
    },
    {
      "id": 16724,
      "label": "symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020350",
          "MEDGEN:1631985",
          "Orphanet:206546",
          "SCTID:765197008",
          "UMLS:C4707359"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016097"
    },
    {
      "id": 16733,
      "label": "myotonic dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16737
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:450",
          "GARD:0010419",
          "ICD10CM:G71.11",
          "ICD9:359.2",
          "MEDGEN:10239",
          "MESH:D009223",
          "MedDRA:10068871",
          "NANDO:1200495",
          "NANDO:2200864",
          "NCIT:C84914",
          "OMIMPS:160900",
          "Orphanet:206647",
          "SCTID:240104008",
          "UMLS:C0027126",
          "icd11.foundation:192087511"
        ],
        "synonyms": [
          "inherited myotonic dystrophy",
          "myotonia atrophica",
          "myotonia dystrophica",
          "myotonic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited progressive disorder affecting the muscles. It is characterized by muscle wasting and hypotonia, cataracts, heart conduction defects and endocrinopathies."
      },
      "child_count": 16,
      "reference_id": "MONDO:0016107"
    },
    {
      "id": 17256,
      "label": "Emery-Dreifuss muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        16878
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11726",
          "GARD:0006329",
          "MEDGEN:96078",
          "MESH:D020389",
          "NANDO:1200492",
          "NANDO:2200857",
          "NCIT:C84685",
          "NORD:1084",
          "OMIMPS:310300",
          "Orphanet:261",
          "SCTID:111508004",
          "UMLS:C0410189",
          "icd11.foundation:749295636"
        ],
        "synonyms": [
          "EDMD",
          "Emery Dreifuss Muscular Dystrophy",
          "Emery-Dreifuss muscular dystrophy",
          "Humeroperoneal neuromuscular disease, (formerly)",
          "scapuloperoneal syndrome, X-linked (formerly)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Emery-Dreifuss muscular dystrophy (EDMD) is characterized by muscular weakness and atrophy, with early joint contractures and cardiomyopathy."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016830"
    },
    {
      "id": 17384,
      "label": "limb-girdle muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11724",
          "GARD:0006907",
          "MEDGEN:151940",
          "MESH:D049288",
          "NANDO:1200490",
          "NANDO:2200858",
          "NCIT:C84828",
          "Orphanet:263",
          "SCTID:78468005",
          "UMLS:C0686353",
          "icd11.foundation:887807212"
        ],
        "synonyms": [
          "LGMD",
          "Leyden-Mobius muscular dystrophy",
          "limb-girdle muscular dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular dystrophies characterized by proximal weakness affecting the pelvic and shoulder girdles. Cardiac and respiratory impairment may be observed in certain forms of LGMD."
      },
      "child_count": 3,
      "reference_id": "MONDO:0016971"
    },
    {
      "id": 18724,
      "label": "childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021942",
          "MEDGEN:1800286",
          "Orphanet:466921",
          "UMLS:C5568863"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018759"
    },
    {
      "id": 21665,
      "label": "oculopharyngodistal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16732,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081296",
          "GARD:0012592",
          "MEDGEN:320250",
          "MESH:C563508",
          "NANDO:1200219",
          "OMIMPS:164310",
          "Orphanet:98897",
          "SCTID:763829004",
          "UMLS:C1834014",
          "icd11.foundation:1493269618"
        ],
        "synonyms": [
          "OPDM",
          "oculopharyngeal distal myopathy",
          "oculopharyngodistal myopathy",
          "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown."
      },
      "child_count": 10,
      "reference_id": "MONDO:0025193"
    }
  ],
  "roots": [
    {
      "id": 19744,
      "label": "muscular dystrophy"
    }
  ]
}