{
  "id": 16744,
  "label": "qualitative or quantitative protein defects in neuromuscular diseases",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016139",
  "properties": {
    "xrefs": [
      "GARD:0020388",
      "MEDGEN:1842598",
      "Orphanet:207049",
      "UMLS:C5680807"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 19,
  "parents": [
    {
      "id": 6799,
      "label": "nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:863",
          "EFO:0000618",
          "ICD10CM:G00-G99",
          "ICD9:349.89",
          "ICD9:349.9",
          "MEDGEN:14336",
          "MESH:D009422",
          "NCIT:C26835",
          "SCTID:118940003",
          "UMLS:C0027765",
          "Wikipedia:Nervous_system_disease"
        ],
        "synonyms": [
          "disease of nervous system",
          "disease or disorder of nervous system",
          "disorder of nervous system",
          "nervous system disease",
          "nervous system disease or disorder",
          "nervous system disorder",
          "neurologic disease",
          "neurologic disorder",
          "neurological disease",
          "neurological disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the brain, spinal cord, or peripheral nerves."
      },
      "child_count": 72,
      "reference_id": "MONDO:0005071"
    }
  ],
  "children": [
    {
      "id": 16745,
      "label": "sarcoglycanopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020389",
          "MEDGEN:424705",
          "MESH:D058088",
          "Orphanet:207052",
          "UMLS:C2936331"
        ],
        "synonyms": [
          "qualitative or quantitative defects of sarcoglycan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Deficiencies or mutations in the genes for the sarcoglycan complex subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016140"
    },
    {
      "id": 16750,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dysferlin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002003",
          "MEDGEN:419874",
          "MESH:C537995",
          "Orphanet:207073",
          "UMLS:C2931687"
        ],
        "synonyms": [
          "dysferlinopathy",
          "qualitative or quantitative defects of dysferlin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016145"
    },
    {
      "id": 16751,
      "label": "caveolinopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798,
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020394",
          "MEDGEN:1826055",
          "Orphanet:207078",
          "UMLS:C5679790"
        ],
        "synonyms": [
          "qualitative or quantitative defects of caveolin-3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals"
      },
      "child_count": 3,
      "reference_id": "MONDO:0016146"
    },
    {
      "id": 16752,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of dystrophin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002031",
          "MEDGEN:1826053",
          "NANDO:1200487",
          "Orphanet:207085",
          "UMLS:C5679787"
        ],
        "synonyms": [
          "dystrophinopathy",
          "qualitative or quantitative defects of dystrophin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016147"
    },
    {
      "id": 16753,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of perlecan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020398",
          "MEDGEN:1842752",
          "Orphanet:207101",
          "UMLS:C5680831"
        ],
        "synonyms": [
          "qualitative or quantitative defects of perlecan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016151"
    },
    {
      "id": 16754,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of TRIM32",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020400",
          "MEDGEN:1843261",
          "Orphanet:207107",
          "UMLS:C5680829"
        ],
        "synonyms": [
          "qualitative or quantitative defects of TRIM32"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016153"
    },
    {
      "id": 16773,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of myofibrillar proteins",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020425",
          "MEDGEN:1842566",
          "Orphanet:209038",
          "UMLS:C5680851"
        ],
        "synonyms": [
          "qualitative or quantitative defects of myofibrillar proteins"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016186"
    },
    {
      "id": 16778,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of titin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020430",
          "MEDGEN:1843244",
          "Orphanet:209053",
          "UMLS:C5680843"
        ],
        "synonyms": [
          "qualitative or quantitative defects of titin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0016191"
    },
    {
      "id": 16779,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of telethonin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020431",
          "MEDGEN:1842233",
          "Orphanet:209056",
          "UMLS:C5680842"
        ],
        "synonyms": [
          "qualitative or quantitative defects of telethonin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0016192"
    },
    {
      "id": 16780,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-actin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020432",
          "MEDGEN:1842305",
          "Orphanet:209059",
          "UMLS:C5680845"
        ],
        "synonyms": [
          "qualitative or quantitative defects of alpha-actin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016193"
    },
    {
      "id": 16781,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of nebulin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020433",
          "MEDGEN:1842429",
          "Orphanet:209182",
          "UMLS:C5680844"
        ],
        "synonyms": [
          "qualitative or quantitative defects of nebulin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016194"
    },
    {
      "id": 16782,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of beta-myosin heavy chain (MYH7)",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020434",
          "MEDGEN:1842636",
          "Orphanet:209185",
          "UMLS:C5680832"
        ],
        "synonyms": [
          "qualitative or quantitative defects of beta-myosin heavy chain (MYH7)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016195"
    },
    {
      "id": 16783,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of selenoprotein N1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020436",
          "MEDGEN:1842545",
          "Orphanet:209193",
          "UMLS:C5680834"
        ],
        "synonyms": [
          "qualitative or quantitative defects of selenoprotein N1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016197"
    },
    {
      "id": 16784,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of plectin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020437",
          "MEDGEN:1842345",
          "Orphanet:209196",
          "UMLS:C5680835"
        ],
        "synonyms": [
          "PLEC-related muscular dystrophy-epidermolysis bullosa simplex spectrum disorder",
          "qualitative or quantitative defects of plectin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neuromuscular disease caused by the qualitative or quantitative defects of plectin. It is characterized by muscular dystrophy."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016198"
    },
    {
      "id": 16785,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of protein SERCA1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020438",
          "MEDGEN:1843114",
          "Orphanet:209199",
          "UMLS:C5680836"
        ],
        "synonyms": [
          "qualitative or quantitative defects of protein SERCA1"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016199"
    },
    {
      "id": 17624,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of tropomyosin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021123",
          "MEDGEN:1842978",
          "Orphanet:284790",
          "UMLS:C5681012"
        ],
        "synonyms": [
          "qualitative or quantitative defects of tropomyosin"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0017303"
    },
    {
      "id": 18397,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-dystroglycan",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021601",
          "MEDGEN:423526",
          "Orphanet:371024",
          "UMLS:C2936406"
        ],
        "synonyms": [
          "alpha-dystroglycanopathy",
          "dystroglycanopathy",
          "qualitative or quantitative defects of alpha-dystroglycan"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 1,
      "reference_id": "MONDO:0018282"
    },
    {
      "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": 23966,
      "label": "collagen 6-related myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        16744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012705"
        ],
        "synonyms": [
          "collagen 6-related myopathy",
          "collagen VI-related dystrophy",
          "collagen VI-related muscle disorder",
          "collagen VI-related muscular dystrophy",
          "collagen VI-related myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A qualitative or quantitative defect of collagen 6 disorder that covers a wide spectrum of musculoskeletal phenotypes caused by dominant and recessive mutations in the three major collagen VI genes: COL6A1, COL6A2, and COL6A3. These variants lead to a variety of overlapping phenotypes, ranging from severe congenital muscle weakness, hypotonia, torticollis and contractures with loss or non-development of ambulation on one end and childhood to adult onset mild muscle weakness, stiffness, and joint hyperlaxity on the other."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100225"
    }
  ],
  "roots": [
    {
      "id": 6799,
      "label": "nervous system disorder"
    }
  ]
}