{
  "id": 9392,
  "label": "congenital myopathy 2a, typical, autosomal dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008070",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16495,
      "label": "severe congenital nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012821",
          "MEDGEN:1805110",
          "Orphanet:171430",
          "UMLS:C5680451",
          "icd11.foundation:1025202057"
        ],
        "synonyms": [
          "severe congenital (neonatal) NM"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM) characterized by severe hypotonia with little spontaneous movement in neonates."
      },
      "child_count": 25,
      "reference_id": "MONDO:0015735"
    },
    {
      "id": 16496,
      "label": "intermediate nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        7023,
        16780,
        16781,
        17624
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012823",
          "MEDGEN:1803914",
          "Orphanet:171433",
          "UMLS:C5680452",
          "icd11.foundation:1667070006"
        ],
        "synonyms": [
          "Intermediate congenital NM",
          "Intermediate congenital nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Intermediate nemaline myopathy is a type of nemaline myopathy (NM) that shows features of typical NM in neonates with a more severe progression."
      },
      "child_count": 20,
      "reference_id": "MONDO:0015736"
    },
    {
      "id": 16497,
      "label": "typical nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        17624,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012822",
          "MEDGEN:1806265",
          "Orphanet:171436",
          "UMLS:C5680453",
          "icd11.foundation:1105111633"
        ],
        "synonyms": [
          "typical congenital nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Typical nemaline myopathy is a moderate neonatal form of nemaline myopathy (NM) characterized by facial and skeletal muscle weakness and mild respiratory involvement."
      },
      "child_count": 36,
      "reference_id": "MONDO:0015737"
    },
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        17624,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0007171",
          "MEDGEN:154265",
          "Orphanet:171439",
          "UMLS:C0546125"
        ],
        "synonyms": [
          "mild nemaline myopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM) characterized by distal muscle weakness, and sometimes slowness of muscle contraction."
      },
      "child_count": 36,
      "reference_id": "MONDO:0015738"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16495,
      "label": "severe congenital nemaline myopathy"
    },
    {
      "id": 16496,
      "label": "intermediate nemaline myopathy"
    },
    {
      "id": 16497,
      "label": "typical nemaline myopathy"
    },
    {
      "id": 16498,
      "label": "childhood-onset nemaline myopathy"
    },
    {
      "id": 23836,
      "label": "alpha-actinopathy"
    }
  ]
}