{
  "id": 18871,
  "label": "distal myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018949",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "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": 9372,
      "label": "myopathy, distal, infantile-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070196",
          "GARD:0024597",
          "MEDGEN:860162",
          "OMIM:160300",
          "UMLS:C4011725"
        ],
        "synonyms": [
          "myopathy, distal, infantile-onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008049"
    },
    {
      "id": 9373,
      "label": "MYH7-related skeletal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16782,
        18871,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070197",
          "GARD:0010769",
          "MEDGEN:1647391",
          "OMIM:160500",
          "Orphanet:59135",
          "SCTID:764859001",
          "UMLS:C4552004"
        ],
        "synonyms": [
          "Laing distal myopathy",
          "MPD1",
          "MYH7-related skeletal myopathy",
          "distal myopathy type 1",
          "myopathy distal, type 1",
          "myopathy, distal, 1",
          "myopathy, distal, early-onset, autosomal dominant",
          "myopathy, distal, type 1",
          "myopathy, late distal hereditary",
          "myosin storage myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. Progression is slow with variations in age of onset, severity, weakness, cardiac, and respiratory involvement."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008050"
    },
    {
      "id": 10899,
      "label": "Miyoshi myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070198",
          "GARD:0009676",
          "MEDGEN:1790866",
          "MESH:C537480",
          "NANDO:1200217",
          "NCIT:C118846",
          "OMIMPS:254130",
          "Orphanet:45448",
          "UMLS:C5553104"
        ],
        "synonyms": [
          "MM",
          "Miyoshi distal myopathy",
          "Miyoshi muscular dystrophy",
          "MMD1",
          "Miyoshi muscular dystrophy 1",
          "Miyoshi muscular dystrophy type 1",
          "muscular dystrophy, distal, late onset, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes."
      },
      "child_count": 3,
      "reference_id": "MONDO:0009685"
    },
    {
      "id": 12808,
      "label": "distal myopathy with anterior tibial onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16750,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111187",
          "GARD:0017080",
          "MEDGEN:335706",
          "MESH:C564664",
          "OMIM:606768",
          "Orphanet:178400",
          "UMLS:C1847532",
          "icd11.foundation:651559966"
        ],
        "synonyms": [
          "distal anterior compartment myopathy",
          "DMAT",
          "myopathy, distal, with anterior tibial onset"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011721"
    },
    {
      "id": 15859,
      "label": "myopathy, distal, 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017878",
          "MEDGEN:1798944",
          "OMIM:617030",
          "Orphanet:482601",
          "UMLS:C5567521"
        ],
        "synonyms": [
          "ADSSL1 distal myopathy",
          "ADSSL1-related distal myopathy",
          "MPD5",
          "adenylosuccinate synthetase-like 1-related distal myopathy",
          "distal myopathy caused by mutation in ADSSL1",
          "myopathy, distal, 5; MPD5",
          "myopathy, distal, type 5"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014877"
    },
    {
      "id": 15924,
      "label": "myopathy, distal, with rimmed vacuoles",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18871,
        25050
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081363",
          "GARD:0016204",
          "MEDGEN:1728314",
          "NANDO:1200218",
          "OMIM:617158",
          "UMLS:C5399975"
        ],
        "synonyms": [
          "DMRV",
          "myopathy, distal, with rimmed vacuoles",
          "myopathy, distal, with rimmed vacuoles; DMRV"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014945"
    },
    {
      "id": 16734,
      "label": "autosomal dominant distal myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020361",
          "MEDGEN:1826097",
          "Orphanet:206650",
          "UMLS:C5680803"
        ],
        "synonyms": [
          "distal myopathy, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of distal myopathy."
      },
      "child_count": 30,
      "reference_id": "MONDO:0016108"
    },
    {
      "id": 18452,
      "label": "nebulin-related early-onset distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021656",
          "MEDGEN:1677937",
          "Orphanet:399103",
          "UMLS:C5190827"
        ],
        "synonyms": [
          "distal nebulin myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018371"
    },
    {
      "id": 21587,
      "label": "myopathy, distal, 7, adult-onset, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025463",
          "MEDGEN:1808663",
          "OMIM:301075",
          "Orphanet:700163",
          "UMLS:C5676880"
        ],
        "synonyms": [
          "MPD7",
          "myopathy, distal, 7, adult-onset, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0024771"
    },
    {
      "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"
    },
    {
      "id": 26168,
      "label": "asymptomatic hyperckemia-myalgia-rhabdomyolysis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18871
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027423",
          "MEDGEN:1876659",
          "Orphanet:689021",
          "UMLS:C6012375"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0975918"
    }
  ],
  "roots": [
    {
      "id": 19744,
      "label": "muscular dystrophy"
    }
  ]
}