{
  "id": 16734,
  "label": "autosomal dominant distal myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016108",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12004,
      "label": "tibial muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734,
        24220
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111078",
          "GARD:0013154",
          "MEDGEN:333047",
          "OMIM:600334",
          "Orphanet:609",
          "SCTID:698846009",
          "UMLS:C1838244"
        ],
        "synonyms": [
          "Finnish tibial muscular dystrophy",
          "TMD",
          "Udd myopathy",
          "distal myopathy, Udd type",
          "distal titinopathy",
          "tardive tibial muscular dystrophy",
          "Tmd",
          "tibial muscular dystrophy, tardive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A distal myopathy characterized by weakness of the muscles of the anterior compartment of lower limbs, appearing in the fourth to seventh decade of life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010870"
    },
    {
      "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": 12570,
      "label": "distal myopathy, Welander type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005552",
          "MEDGEN:67441",
          "OMIM:604454",
          "Orphanet:603",
          "UMLS:C0221054"
        ],
        "synonyms": [
          "WDM",
          "Welander distal myopathy",
          "Welander distal myopathy, Swedish type",
          "distal myopathy, Swedish type",
          "muscular dystrophy, distal, late-onset, autosomal dominant",
          "myopathy, distal, Swedish"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Welander distal myopathy (WDM) is a distal myopathy, characterized by weakness in the distal upper extremities, usually finger and wrist extensors which later progresses to all hand muscles and distal lower extremity, primarily in toe and ankle extensors."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011466"
    },
    {
      "id": 13195,
      "label": "myofibrillar myopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734,
        29370
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080093",
          "GARD:0017651",
          "MEDGEN:324735",
          "MESH:C563848",
          "OMIM:608810",
          "Orphanet:399058",
          "UMLS:C1837317"
        ],
        "synonyms": [
          "CRYAB autosomal dominant distal myopathy",
          "CRYAB-related myofibrillar myopathy",
          "alpha-B crystallinopathy",
          "autosomal dominant distal myopathy caused by mutation in CRYAB",
          "late-onset distal crystallinopathy",
          "myofibrillar myopathy type 2",
          "myopathy, myofibrillar, type 2",
          "MFM2",
          "myopathy, myofibrillar, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any autosomal dominant distal myopathy in which the cause of the disease is a mutation in the CRYAB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012130"
    },
    {
      "id": 13276,
      "label": "myofibrillar myopathy 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16083,
        16734,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080094",
          "DOID:0110300",
          "GARD:0016871",
          "MEDGEN:811509",
          "MESH:C000598645",
          "MESH:C535906",
          "MESH:C563775",
          "OMIM:159000",
          "OMIM:182920",
          "OMIM:609200",
          "Orphanet:266",
          "Orphanet:268129",
          "Orphanet:98911",
          "SCTID:719985001",
          "SCTID:765092004",
          "SCTID:765196004",
          "UMLS:C3714934"
        ],
        "synonyms": [
          "LGMD1A",
          "MYOT autosomal dominant distal myopathy",
          "MYOT autosomal dominant limb-girdle muscular dystrophy",
          "MYOT-related myofibrillar myopathy",
          "autosomal dominant distal myopathy caused by mutation in MYOT",
          "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT",
          "autosomal dominant limb-girdle muscular dystrophy type 1A",
          "distal myotilinopathy",
          "myofibrillar myopathy type 3",
          "myopathy, myofibrillar, type 3",
          "myotilinopathy",
          "spheroid body myopathy",
          "LGMD1",
          "MFM3",
          "autosomal dominant spheroid body myopathy",
          "limb-girdle muscular dystrophy type 1A",
          "muscular dystrophy, limb-girdle, type 1A",
          "muscular dystrophy, proximal, type 1A",
          "myopathy, myofibrillar, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012215"
    },
    {
      "id": 13336,
      "label": "myofibrillar myopathy 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16734,
        16777,
        18865
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080095",
          "GARD:0001886",
          "MEDGEN:1648314",
          "MESH:C563718",
          "OMIM:609452",
          "Orphanet:98912",
          "UMLS:C4721886"
        ],
        "synonyms": [
          "LDB3 myofibrillar myopathy (disease)",
          "ZASP-related myofibrillar myopathy",
          "myofibrillar myopathy (disease) caused by mutation in LDB3",
          "myofibrillar myopathy type 4",
          "myopathy, myofibrillar, type 4",
          "MFM4",
          "late-onset distal myopathy, Markesbery-Griggs type",
          "myopathy, myofibrillar, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Late-onset distal myopathy, Markesbery-Griggs type is a rare, genetic, non-dystrophic myofibrillar myopathy disorder characterized by late-adult onset of distal and/or proximal limb muscle weakness with initial involvement of posterior lower leg muscles, medial gastrocnemius and soleus. Patients present with ankle weakness followed by weakness of finger and wrist extensors and later on of proximal muscles. Ambulation is usually preserved. Late-onset associated cardiomyopathy and/or neuropathy has been reported in a minority of cases."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012277"
    },
    {
      "id": 13461,
      "label": "Finnish upper limb-onset distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111189",
          "GARD:0017652",
          "MEDGEN:400595",
          "OMIM:610099",
          "Orphanet:399086",
          "SCTID:763718009",
          "UMLS:C1864706"
        ],
        "synonyms": [
          "MPD3",
          "distal myopathy type 3",
          "myopathy, distal, 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Finnish upper limb-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal to proximal limb muscle weakness and atrophy, with characteristic early involvement of thenar and hypothenar muscles. Patients present with clumsiness of the hands and stumbling in the fourth to fifth decade of life, and later develop steppage gait and contractures of the hands. Progressive fatty degeneration affects intrinsic muscles of the hands, gluteus medium and both anterior and posterior compartment muscles of the distal lower extremities, with later involvement of forearm muscles, triceps, infraspinatus and the proximal lower limb muscles. Asymmetry of muscle involvement is common."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012410"
    },
    {
      "id": 14578,
      "label": "distal myopathy with posterior leg and anterior hand involvement",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111190",
          "GARD:0016666",
          "MEDGEN:481352",
          "OMIM:614065",
          "Orphanet:63273",
          "SCTID:733489002",
          "UMLS:C3279722"
        ],
        "synonyms": [
          "distal ABD-filaminopathy",
          "myopathy, distal, type 4",
          "MPD4",
          "Williams distal myopathy",
          "myopathy, distal, 4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013550"
    },
    {
      "id": 14708,
      "label": "distal myopathy, Tateyama type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111191",
          "GARD:0017900",
          "MEDGEN:482073",
          "OMIM:614321",
          "Orphanet:488650",
          "SCTID:711265009",
          "UMLS:C3280443"
        ],
        "synonyms": [
          "MPDT",
          "myopathy, distal, Tateyama type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013686"
    },
    {
      "id": 18181,
      "label": "adult-onset distal myopathy due to VCP mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021492",
          "MEDGEN:1660404",
          "Orphanet:329478",
          "UMLS:C4749506"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018006"
    },
    {
      "id": 18451,
      "label": "KLHL9-related early-onset distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021655",
          "MEDGEN:1647584",
          "Orphanet:399081",
          "SCTID:763776004",
          "UMLS:C4706574"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018370"
    },
    {
      "id": 18873,
      "label": "distal myopathy with vocal cord weakness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001887",
          "MEDGEN:342950",
          "Orphanet:600",
          "UMLS:C1853723",
          "icd11.foundation:1133125258"
        ],
        "synonyms": [
          "MATR3-related distal myopathy",
          "VCPDM",
          "MPD2",
          "distal myopathy 2",
          "vocal cord and pharyngeal distal myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018951"
    },
    {
      "id": 26306,
      "label": "TARDBP-related predominantly upper-limb distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700154"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979359"
    },
    {
      "id": 26308,
      "label": "asymetric thumb-handgrip weakness-distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700170"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979361"
    },
    {
      "id": 26309,
      "label": "calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16734
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:700188"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979362"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 18871,
      "label": "distal myopathy"
    }
  ]
}