{
  "id": 18880,
  "label": "nemaline myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018958",
  "properties": {
    "xrefs": [
      "DOID:3191",
      "GARD:0012033",
      "ICD10CM:G71.21",
      "MEDGEN:61528",
      "MESH:D017696",
      "NANDO:1200478",
      "NANDO:2200869",
      "OMIMPS:256030",
      "Orphanet:607",
      "SCTID:75072002",
      "UMLS:C0206157",
      "icd11.foundation:1996502540"
    ],
    "synonyms": [
      "NEM",
      "NM",
      "nemaline body disease",
      "nemaline myopathy",
      "nemaline rod myopathy",
      "rod myopathy",
      "Rod body disease",
      "Rod-body myopathy",
      "congenital rod disease",
      "nemaline rod disease"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Nemaline myopathy (NM) encompasses a large spectrum of myopathies characterized by hypotonia, weakness and depressed or absent deep tendon reflexes, with pathologic evidence of nemaline bodies (rods) on muscle biopsy."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 8,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 12637,
      "label": "nemaline myopathy 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110936",
          "GARD:0008334",
          "MEDGEN:344273",
          "MESH:C538397",
          "OMIM:605355",
          "Orphanet:98902",
          "UMLS:C1854380"
        ],
        "synonyms": [
          "ANM",
          "Amish nemaline myopathy",
          "NEM5",
          "TNNT1 nemaline myopathy",
          "nemaline myopathy 5",
          "nemaline myopathy caused by mutation in TNNT1",
          "nemaline myopathy type 5",
          "nemaline myopathy, Amish type",
          "nemaline myopathy, caused by mutation in the troponin t1 gene"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Amish nemaline myopathy is a type of nemaline myopathy (NM) only observed in several families of the Amish community."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011539"
    },
    {
      "id": 15999,
      "label": "MYPN-related myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110933",
          "GARD:0016222",
          "MEDGEN:1384302",
          "OMIM:617336",
          "UMLS:C4479186"
        ],
        "synonyms": [
          "MYPN nemaline myopathy",
          "MYPN-related myopathy",
          "NEM11",
          "nemaline myopathy 11",
          "nemaline myopathy 11, autosomal recessive",
          "nemaline myopathy caused by mutation in MYPN",
          "nemaline myopathy type 11"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Congenital myopathy caused by pathogenic mutations in MYPN that lead to a wide spectrum of phenotypes. Patients with mutations in this gene often experience muscle weakness, facial weakness, and sometimes cardiac and respiratory issues. Histological findings on skeletal muscle biopsy are variable with nemaline bodies and cap-like lesions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015023"
    },
    {
      "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": 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": 16499,
      "label": "adult-onset nemaline myopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16780,
        16781,
        18880,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012824",
          "MEDGEN:154264",
          "Orphanet:171442",
          "UMLS:C0546123",
          "icd11.foundation:1610331066"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Adult-onset nemaline myopathy is a rapidly progressive type of nemaline myopathy (NM) characterized by a very late onset."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015739"
    },
    {
      "id": 25643,
      "label": "nemaline myopathy 5B, autosomal recessive, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081374",
          "GARD:0026810",
          "MEDGEN:1841181",
          "OMIM:620386",
          "UMLS:C5830545"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957281"
    },
    {
      "id": 25644,
      "label": "nemaline myopathy 5C, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18880
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081375",
          "GARD:0026811",
          "MEDGEN:1841185",
          "OMIM:620389",
          "UMLS:C5830549"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957284"
    }
  ],
  "roots": [
    {
      "id": 4928,
      "label": "congenital structural myopathy"
    }
  ]
}