{
  "id": 23836,
  "label": "alpha-actinopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100084",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020388",
          "MEDGEN:1842598",
          "Orphanet:207049",
          "UMLS:C5680807"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0016139"
    },
    {
      "id": 19669,
      "label": "congenital myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7023,
        24618
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 106,
      "reference_id": "MONDO:0019952"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 9392,
      "label": "congenital myopathy 2a, typical, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16496,
        16497,
        16498,
        23836
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110927",
          "GARD:0010111",
          "MEDGEN:777997",
          "MESH:C579880",
          "MESH:C580202",
          "NCIT:C129870",
          "OMIM:161800",
          "Orphanet:98904",
          "SCTID:702349003",
          "UMLS:C3711389"
        ],
        "synonyms": [
          "ACTA1 nemaline myopathy",
          "CMYO2A",
          "actin accumulation myopathy",
          "actin accumulation myopathy (disorder)",
          "actin myopathy",
          "congenital myopathy 2a, typical, autosomal dominant",
          "congenital myopathy with excess of thin filaments",
          "nemaline myopathy caused by mutation in ACTA1",
          "nemaline myopathy type 3",
          "NEM3",
          "myopathy, actin, congenital, with Excess of thin myofilaments",
          "myopathy, actin, congenital, with cores",
          "nemaline myopathy 3",
          "nemaline myopathy 3, with intranuclear rods"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008070"
    },
    {
      "id": 15788,
      "label": "progressive scapulohumeroperoneal distal myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16732,
        23836
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017779",
          "MEDGEN:905125",
          "OMIM:616852",
          "Orphanet:447977",
          "UMLS:C4225181"
        ],
        "synonyms": [
          "myopathy, scapulohumeroperoneal",
          "SHPM"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014800"
    },
    {
      "id": 16511,
      "label": "cap myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23836,
        23858
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0011915",
          "MEDGEN:777197",
          "MESH:C579969",
          "Orphanet:171881",
          "SCTID:703532002",
          "UMLS:C3710589"
        ],
        "synonyms": [
          "Cap disease",
          "congenital myopathy with caps"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015753"
    },
    {
      "id": 19666,
      "label": "zebra body myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23836
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019354",
          "ICD9:359.89",
          "MEDGEN:543080",
          "Orphanet:97240",
          "SCTID:34513009",
          "UMLS:C0270969",
          "icd11.foundation:1699813614"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0019949"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16744,
      "label": "qualitative or quantitative protein defects in neuromuscular diseases"
    },
    {
      "id": 19669,
      "label": "congenital myopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}