{
  "id": 19669,
  "label": "congenital myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019952",
  "properties": {
    "xrefs": [
      "DOID:0080100",
      "DOID:0081337",
      "GARD:0005898",
      "MEDGEN:124381",
      "MedDRA:10062547",
      "NANDO:1200477",
      "NANDO:2100234",
      "OMIMPS:117000",
      "Orphanet:97245",
      "UMLS:C0270960",
      "icd11.foundation:1185572073"
    ],
    "synonyms": [
      "congenital myopathy",
      "Batten Turner congenital myopathy",
      "myopathy congenital"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 53,
  "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": 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": 2862,
      "label": "Ullrich congenital muscular dystrophy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19667,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050558",
          "GARD:0004769",
          "MEDGEN:1642667",
          "MESH:C537521",
          "NANDO:1200215",
          "NANDO:2200862",
          "NCIT:C123438",
          "OMIMPS:254090",
          "Orphanet:75840",
          "SCTID:240062007",
          "UMLS:C4551860",
          "icd11.foundation:1011547453"
        ],
        "synonyms": [
          "UCMD",
          "Ullrich scleroatonic muscular dystrophy",
          "scleroatonic Ullrich disease",
          "scleroatonic muscular dystrophy",
          "Ullrich disease",
          "congenital muscular dystrophy, Ullrich type",
          "late onset scleroatonic familial myopathy (subtype)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Ullrich congenital muscular dystrophy (UCMD) is characterized by early-onset, generalized and slowly progressive muscle weakness, multiple proximal joint contractures, marked hypermobility of the distal joints and normal intelligence."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000355"
    },
    {
      "id": 4928,
      "label": "congenital structural myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:422",
          "GARD:0023302",
          "MEDGEN:156050",
          "MESH:D020914",
          "NANDO:1200482",
          "NANDO:2200867",
          "NCIT:C84648",
          "UMLS:C0752282"
        ],
        "synonyms": [
          "centronuclear myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of rare genetic muscle disorders characterized by hypotonia, muscle weakness, and delayed development of motor skills."
      },
      "child_count": 6,
      "reference_id": "MONDO:0002921"
    },
    {
      "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": 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": 9374,
      "label": "tubular aggregate myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080089",
          "GARD:0003884",
          "MEDGEN:98050",
          "OMIMPS:160565",
          "Orphanet:2593",
          "UMLS:C0410207"
        ],
        "synonyms": [
          "myopathy, tubular aggregate, type 1",
          "tubular aggregate myopathy",
          "TAM1",
          "myopathy, tubular aggregate, 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tubular aggregate myopathy is a disorder that affects the skeletal muscles. Signs and symptoms typically begin in childhood and worsen over time. The leg muscles are most often affected, but the arm muscles may also be involved. Symptoms include muscle pain, cramping, weakness or stiffness; and exercise-induced muscle fatigue. Affected individuals may have an unusual walking style (gait) or difficulty running, climbing stairs, or getting up from a squatting position. Some individuals develop contractures. This condition may be caused by mutations in the STIM1 or ORAI1 genes. It is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has also been reported."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008051"
    },
    {
      "id": 9381,
      "label": "cylindrical spirals myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080103",
          "GARD:0011906",
          "MEDGEN:371817",
          "MESH:C563535",
          "OMIM:160990",
          "Orphanet:171886",
          "SCTID:764525006",
          "UMLS:C1834418",
          "icd11.foundation:1555346098"
        ],
        "synonyms": [
          "myotonic myopathy with cylindrical spirals"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cylindrical spirals myopathy is a rare form of congenital myopathy characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions (located in the central and/or subsacrolemmal areas of muscle fibers) in skeletal muscle biopsy. Abnormal gait, scoliosis, epileptic encephalopathy and psychomotor delay may be associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008058"
    },
    {
      "id": 9706,
      "label": "congenital myopathy 7A, myosin storage, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3107,
        4427,
        16782,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111269",
          "GARD:0015429",
          "ICD9:359.89",
          "MEDGEN:374868",
          "MESH:C564253",
          "OMIM:181430",
          "OMIM:608358",
          "Orphanet:437572",
          "Orphanet:636965",
          "UMLS:C1842160"
        ],
        "synonyms": [
          "MSMA",
          "MYH7-related late-onset SPMD",
          "MYH7-related late-onset scapuloperoneal muscular dystrophy",
          "MYH7-related late-onset scapuloperoneal syndrome",
          "MYH7-related scapuloperoneal myopathy",
          "SPMD",
          "SPMM",
          "autosomal dominant myosin storage myopathy",
          "myopathy with lysis of type 1 myofibrils",
          "myopathy, hyaline body, autosomal dominant",
          "myopathy, myosin storage, autosomal dominant",
          "scapuloperoneal muscular dystrophy",
          "scapuloperoneal myopathy, MYH7-related",
          "scapuloperoneal syndrome, myopathic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008409"
    },
    {
      "id": 10885,
      "label": "intellectual disability-myopathy-short stature-endocrine defect syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001358",
          "MEDGEN:381471",
          "MESH:C535458",
          "OMIM:253320",
          "Orphanet:3068",
          "SCTID:764959000",
          "UMLS:C1854663"
        ],
        "synonyms": [
          "Chudley-Rozdilsky syndrome",
          "Chudley Rozdilsky syndrome",
          "Chudley syndrome",
          "multicore myopathy with intellectual disability, short stature, and hypogonadotropic hypogonadism",
          "multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Intellectual disability-myopathy-short stature-endocrine defect syndrome is a rare congenital myopathy syndrome characterized by nonprogressive myopathy (manifesting with mild facial and generalized weakness, bilateral ptosis, and severe lumbar lordosis), severe intellectual disability, short stature, and sexual infantilism (due to hypogonadotropic hypogonadism). The presence of a small pituitary fossa was also noted. There have been no further descriptions in the literature since 1985."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009671"
    },
    {
      "id": 10921,
      "label": "myopathy, myosin storage, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111268",
          "GARD:0015207",
          "MEDGEN:340603",
          "MESH:C564970",
          "OMIM:255160",
          "Orphanet:636970",
          "UMLS:C1850709"
        ],
        "synonyms": [
          "autosomal recessive myosin storage myopathy",
          "myopathy, myosin storage, autosomal recessive",
          "MSMB",
          "myopathy, hyaline body, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009708"
    },
    {
      "id": 10935,
      "label": "Bailey-Bloch congenital myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060346",
          "GARD:0008432",
          "MEDGEN:340586",
          "MESH:C538343",
          "OMIM:255995",
          "Orphanet:168572",
          "SCTID:723439002",
          "UMLS:C1850625"
        ],
        "synonyms": [
          "Bailey-Bloch congenital myopathy",
          "Native American myopathy",
          "STAC3 disorder",
          "congenital myopathy-cleft palate-malignant hyperthermia syndrome",
          "myopathy, congenital, baily-bloch",
          "NAM",
          "congenital myopathy - cleft palate - malignant hyperthermia",
          "congenital myopathy cleft palate and malignant hyperthermia",
          "myopathy, congenital, with cleft palate and malignant hyperthermia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Bailey-Bloch congenital myopathy is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009722"
    },
    {
      "id": 11744,
      "label": "fingerprint body myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012720",
          "MEDGEN:337026",
          "MESH:C564425",
          "OMIM:305550",
          "Orphanet:97232",
          "UMLS:C1844560",
          "icd11.foundation:1251733531"
        ],
        "synonyms": [
          "fingerprint body myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Fingerprint body myopathy is a congenital benign muscle disorder characterized by congenital hypotonia and weakness and by the presence of numerous fingerprint bodies located at the periphery of the muscle fibers. Prevalence is unknown. Less than 20 patients have been described. Few sporadic cases have been observed, as well as cases of recessive transmission."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010591"
    },
    {
      "id": 12673,
      "label": "myopathy, proximal, and ophthalmoplegia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        9164,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080719",
          "GARD:0024809",
          "MEDGEN:381340",
          "MESH:C565311",
          "OMIM:605637",
          "UMLS:C1854106"
        ],
        "synonyms": [
          "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles",
          "myopathy, proximal, and ophthalmoplegia",
          "MYPOP",
          "inclusion body myopathy 3, autosomal dominant",
          "inclusion body myopathy 3, autosomal dominant, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any congenital myopathy in which the cause of the disease is a mutation in MYH2 gene. The disorder is either slowly progressive or nonprogressive, and affected individuals retain ambulation, although there is variable severity. It can show both autosomal dominant and autosomal recessive inheritance."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011577"
    },
    {
      "id": 13969,
      "label": "Compton-North congenital myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080101",
          "GARD:0017111",
          "MEDGEN:393406",
          "MESH:C567261",
          "OMIM:612540",
          "Orphanet:210163",
          "UMLS:C2675527"
        ],
        "synonyms": [
          "Compton-North congenital myopathy",
          "MYPCN",
          "congenital lethal myopathy, Compton-North type",
          "myopathy, congenital, Compton-NORTH"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012929"
    },
    {
      "id": 14752,
      "label": "MEGF10-related myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111333",
          "GARD:0012199",
          "MEDGEN:482309",
          "OMIM:614399",
          "Orphanet:439212",
          "UMLS:C3280679"
        ],
        "synonyms": [
          "MEGF10 myopathy",
          "MEGF10-related myopathy",
          "congenital myopathy 10A, severe variant",
          "EMARDD",
          "early-onset myopathy, areflexia, respiratory distress and dysphagia",
          "early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome",
          "myopathy, areflexia, respiratory distress, and dysphagia, early-onset",
          "myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital myopathy caused by mutations in the multiple epidermal growth factor-like domains 10 (MEGF10) gene, which causes early-onset myopathy characterized by severe weakness, scoliosis, joint contractures, areflexia, respiratory distress, and dysphagia, and a milder phenotype of minicore myopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013731"
    },
    {
      "id": 15156,
      "label": "fetal akinesia-cerebral and retinal hemorrhage syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17730,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017553",
          "MEDGEN:1631944",
          "OMIM:615368",
          "Orphanet:363409",
          "SCTID:763346009",
          "UMLS:C4706410"
        ],
        "synonyms": [
          "lethal congenital contracture syndrome type 5",
          "LCCS5",
          "lethal congenital contracture syndrome 5",
          "myopathy, centronuclear, lethal, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014149"
    },
    {
      "id": 15684,
      "label": "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3287,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080592",
          "GARD:0017778",
          "MEDGEN:894399",
          "OMIM:616549",
          "Orphanet:447974",
          "UMLS:C4225285"
        ],
        "synonyms": [
          "Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome",
          "KFS4",
          "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism",
          "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014689"
    },
    {
      "id": 15772,
      "label": "severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017840",
          "MEDGEN:902080",
          "OMIM:616816",
          "Orphanet:467176",
          "UMLS:C4225196"
        ],
        "synonyms": [
          "IHPMR",
          "hypotonia, infantile, with psychomotor retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome is a rare, genetic, non-dystrophic congenital myopathy disorder characterized by a neonatal-onset of severe generalized hypotonia associated with mild psychomotor delay, congenital strabismus with abducens nerve palsy, and atrial and/or ventricular septal defects. Cryptorchidism is commonly reported in male patients and muscle biopsy typically reveals increased variability in muscle fiber size."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014784"
    },
    {
      "id": 16512,
      "label": "myopathy with hexagonally cross-linked tubular arrays",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020129",
          "MEDGEN:1636081",
          "Orphanet:171889",
          "SCTID:764994007",
          "UMLS:C4707259",
          "icd11.foundation:1953170361"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy with hexagonally cross-linked tubular arrays is a rare, congenital, non-dystrophic, mild, slowly progressive, proximal myopathy characterized by exercise intolerance and post-exercise myalgia without rhabdomyolysis, associated with highly organized hexagonally cross-linked tubular arrays in skeletal muscle biopsy. Additional features may include muscle atrophy (or diffuse hypotrophy), myalgia with or without musclar weakness, paresis of truncal and limb-girdle musculature, minimal ptosis, lumbar hyperlordosis, decreased deep tendon reflexes, contractures and pes equinovarus."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015755"
    },
    {
      "id": 18136,
      "label": "benign Samaritan congenital myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021445",
          "MEDGEN:1666762",
          "Orphanet:324581",
          "UMLS:C4749502"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Benign Samaritan congenital myopathy is a rare, genetic, skeletal muscle disease characterized by severe neonatal hypotonia with respiratory insufficiency, delay in motor milestones, and dysmorphic features including bitemporal narrowing, epicanthal folds and hypertelorism. Affected individuals show gradual improvement in hypotonia and muscle weakness within the first two years of life resulting in minimal clinical manifestations in adulthood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017936"
    },
    {
      "id": 18740,
      "label": "congenital generalized hypercontractile muscle stiffness syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        19669,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021956",
          "MEDGEN:1799212",
          "Orphanet:476406",
          "UMLS:C5567789"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018780"
    },
    {
      "id": 18817,
      "label": "hyaline body myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16782,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111267",
          "GARD:0007148",
          "Orphanet:53698",
          "icd11.foundation:352828432"
        ],
        "synonyms": [
          "myosin storage myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018889"
    },
    {
      "id": 18869,
      "label": "centronuclear myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14717",
          "GARD:0000101",
          "ICD10CM:G71.22",
          "MEDGEN:104495",
          "NANDO:1200481",
          "NANDO:1200482",
          "NANDO:2200867",
          "NORD:909",
          "OMIMPS:160150",
          "Orphanet:595",
          "SCTID:82077006",
          "UMLS:C0175709",
          "icd11.foundation:742097637"
        ],
        "synonyms": [
          "CNM",
          "centronuclear myopathy",
          "myopathy, centronuclear",
          "myopathy, myotubular"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy."
      },
      "child_count": 5,
      "reference_id": "MONDO:0018947"
    },
    {
      "id": 19665,
      "label": "reducing body myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080090",
          "GARD:0012162",
          "ICD9:359.89",
          "MEDGEN:543081",
          "NANDO:2200875",
          "Orphanet:97239",
          "SCTID:42779002",
          "UMLS:C0270970",
          "icd11.foundation:397698784"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibers."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019948"
    },
    {
      "id": 22454,
      "label": "myopathy, congenital, with tremor",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081348",
          "GARD:0025748",
          "MEDGEN:1684886",
          "OMIM:618524",
          "UMLS:C5231401"
        ],
        "synonyms": [
          "MYOPATHY, CONGENITAL, WITH TREMOR",
          "MYOTREM",
          "Myogenic Tremor"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032797"
    },
    {
      "id": 22478,
      "label": "myopathy, congenital, progressive, with scoliosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081351",
          "GARD:0025753",
          "MEDGEN:1684769",
          "OMIM:618578",
          "UMLS:C5231417"
        ],
        "synonyms": [
          "MYOSCO",
          "myopathy, congenital, progressive, with scoliosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032821"
    },
    {
      "id": 22506,
      "label": "myopathy, congenital, with structured cores and z-line abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669,
        24723
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081342",
          "GARD:0025759",
          "MEDGEN:1684705",
          "OMIM:618654",
          "UMLS:C5231445"
        ],
        "synonyms": [
          "myopathy, congenital with structured cores and z-line abnormalities",
          "MYOCOZ",
          "MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES",
          "Multiple Structured Core Disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032852"
    },
    {
      "id": 22587,
      "label": "myopathy, congenital, with respiratory insufficiency and bone fractures",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081343",
          "GARD:0025779",
          "MEDGEN:1718097",
          "OMIM:618822",
          "UMLS:C5394189"
        ],
        "synonyms": [
          "MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES",
          "MYORIBF"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032936"
    },
    {
      "id": 22588,
      "label": "myopathy, congenital proximal, with minicore lesions",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081344",
          "GARD:0025780",
          "MEDGEN:1717569",
          "OMIM:618823",
          "UMLS:C5394193"
        ],
        "synonyms": [
          "MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS",
          "MYOPMIL"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032937"
    },
    {
      "id": 22677,
      "label": "myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081349",
          "GARD:0025807",
          "MEDGEN:1764743",
          "OMIM:618975",
          "UMLS:C5436530"
        ],
        "synonyms": [
          "MYODRIF",
          "MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES",
          "Myopathy, Congenital, Due to Myod1 Deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033548"
    },
    {
      "id": 22770,
      "label": "congenital myopathy with reduced type 2 muscle fibers",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081346",
          "GARD:0017989",
          "MEDGEN:1672638",
          "OMIM:618414",
          "Orphanet:544602",
          "UMLS:C5193081"
        ],
        "synonyms": [
          "myopathy, congenital, with fast-twitch (type II) fiber atrophy",
          "myopathy, congenital, with fast-twitch (type II) fibre atrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0034109"
    },
    {
      "id": 23836,
      "label": "alpha-actinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16744,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026038"
        ],
        "synonyms": [
          "actin myopathy",
          "actinopathy",
          "ACTA1 disease",
          "alpha actinopathy",
          "alpha-actinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A musculoskeletal system disorder that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle α-actin gene (ACTA1). These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, myopathic face, respiratory dysfunction, and rarely cardiac involvement. Specific skeletal muscle structural lesions visible on muscle biopsy include actin accumulations, nemaline and intranuclear bodies, fiber-type disproportion, cores, caps, dystrophic features and zebra bodies. Disorders associated with ACTA1 pathogenic variants can have autosomal dominant (90%) or recessive (10%) inheritance."
      },
      "child_count": 16,
      "reference_id": "MONDO:0100084"
    },
    {
      "id": 23851,
      "label": "SELENON-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026047"
        ],
        "synonyms": [
          "SELENON-related myopathy",
          "SEPN1-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present."
      },
      "child_count": 1,
      "reference_id": "MONDO:0100100"
    },
    {
      "id": 23858,
      "label": "TPM3-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17624,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026050"
        ],
        "synonyms": [
          "TPM3 myopathy",
          "TPM3-related myopathy",
          "congenital myopathy related to TPM3",
          "autosomal dominant TPM3-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "TPM3-related myopathy is a disorder of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle γ-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, hypotonia, motor delay, myopathic facies, scoliosis, and sometimes respiratory involvement. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, fiber-type disproportion, and dystrophic features even in patients with the same mutation."
      },
      "child_count": 12,
      "reference_id": "MONDO:0100108"
    },
    {
      "id": 23870,
      "label": "SCN4A-related myopathy, autosomal recessive",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026053"
        ],
        "synonyms": [
          "SCN4A-related myopathy, autosomal recessive",
          "congenital myopathy with \"corona\" fibers, selective muscle atrophy, and craniosynostosis",
          "congenital myopathy with severe fetal hypokinesia",
          "congenital myopathy with severe foetal hypokinesia",
          "myopathy with ptosis and mild dystrophic pattern"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any congenital myopathy in which the cause of the disease is a mutation in the SCN4A gene. It include is a spectrum of autosomal recessive disorders including congenital myasthenic syndrome, fetal hypokinesia, and congenital myopathy."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100121"
    },
    {
      "id": 23892,
      "label": "RYR1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19001,
        19669,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026064",
          "Orphanet:98742"
        ],
        "synonyms": [
          "RYR1-related disease",
          "RYR1-related disorder",
          "RYR1-related myopathy",
          "neurological muscular channelopathy due to a genetic ryanodine receptor defect"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the RYR1 gene, which encodes the ryanodine receptor type 1 protein. These variants are associated with a variety of overlapping features characterized by symmetric proximal muscle weakness, often with pronounced facial weakness with or without dysmorphism and ophthalmoparesis/ophthalmoplegia with ptosis, bulbar weakness, significant respiratory involvement, severe neonatal hypotonia, scoliosis, orthopedic deformities including arthrogryposis, hip dislocation, club feet, and King Denborough syndrome (pectus carinatum or excavatum, short stature, joint contractures, facial and skeletal deformities), malignant hyperthermia susceptibility, anesthesia-induced rhabdomyolysis, fatigue, exercise-induced hyperthermia/exertional heat stroke, and exertional myalgia. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include central core disease, multiminicore disease, cone-rod myopathy, centronuclear myopathy, and congenital fiber-type disproportion."
      },
      "child_count": 20,
      "reference_id": "MONDO:0100150"
    },
    {
      "id": 23917,
      "label": "TTN-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16778,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026073"
        ],
        "synonyms": [
          "TTN myopathy",
          "congenital myopathy related to TTN"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder of the musculoskeletal system caused by pathogenic variants in the TTN gene encoding the titin protein expressed in striated muscle. These variants are associated with a variety of overlapping congenital and adult-onset myopathies characterized by non-progressive or progressive neck, axial, and limb weakness, joint contractures, early-onset respiratory insufficiency, facial weakness, congenital cardiac anomalies and/or early-onset dilated cardiomyopathy. Histologic findings on skeletal muscle biopsy reveal a wide range of structural abnormalities and can include increased internalized and central nuclei, minicores, and dystrophic changes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100175"
    },
    {
      "id": 23937,
      "label": "TPM2-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        17624,
        19669,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026079"
        ],
        "synonyms": [
          "TPM2 myopathy",
          "TPM2-related myopathy",
          "autosomal dominant TPM2-related myopathy",
          "congenital myopathy related to TPM2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myopathy of the musculoskeletal system that covers a wide spectrum of phenotypes and is caused by pathogenic variants in the skeletal muscle beta-Tropomyosin gene. These variants lead to a variety of overlapping adult onset and congenital myopathies characterized by muscle weakness, amyotrophy, hypotonia, myopathic facies, scoliosis, and sometimes contractures among other phenotypes. Histologic findings on skeletal muscle biopsy are variable with nemaline and intranuclear bodies, cap-like lesions, core-like lesions, fiber-type disproportion, and dystrophic features all observed to some degree."
      },
      "child_count": 8,
      "reference_id": "MONDO:0100196"
    },
    {
      "id": 24194,
      "label": "Batten-Turner congenital myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081335",
          "GARD:0026232",
          "MEDGEN:10158",
          "OMIM:255300",
          "UMLS:C0027127"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital myopathy in which a family of 6 siblings presented in infancy the picture of 'amyotonia congenita' and later in life a nonprogressive myopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0100468"
    },
    {
      "id": 24306,
      "label": "TOR1AIP1-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19669,
        24326
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027277"
        ],
        "synonyms": [
          "TOR1AIP1-related limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy type 2Y",
          "muscular dystrophy autosomal recessive with rigid spine and distal joint contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100582"
    },
    {
      "id": 25405,
      "label": "congenital myopathy 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026683",
          "MEDGEN:462881",
          "OMIM:619967",
          "UMLS:C3151531"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859264"
    },
    {
      "id": 25467,
      "label": "congenital myopathy 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081347",
          "GARD:0026704",
          "MEDGEN:1824046",
          "OMIM:620161",
          "UMLS:C5774273"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859335"
    },
    {
      "id": 25514,
      "label": "congenital myopathy 18",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081350",
          "GARD:0026730",
          "MEDGEN:1840919",
          "OMIM:620246",
          "UMLS:C5830283"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0859514"
    },
    {
      "id": 25515,
      "label": "congenital myopathy 10b, mild variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19669
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081345",
          "GARD:0026731",
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    {
      "id": 7023,
      "label": "myopathy"
    },
    {
      "id": 24618,
      "label": "hereditary skeletal muscle disorder"
    }
  ]
}