{
  "id": 16495,
  "label": "severe congenital nemaline myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015735",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "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": 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": 18880,
      "label": "nemaline myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4928
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018958"
    },
    {
      "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": 10938,
      "label": "nemaline myopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16496,
        16497,
        16498
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110928",
          "GARD:0015209",
          "MEDGEN:342534",
          "MESH:C538349",
          "NCIT:C118784",
          "OMIM:256030",
          "UMLS:C1850569"
        ],
        "synonyms": [
          "NEB nemaline myopathy",
          "NEM2",
          "nemaline myopathy 2",
          "nemaline myopathy caused by mutation in NEB",
          "nemaline myopathy type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009725"
    },
    {
      "id": 15145,
      "label": "nemaline myopathy 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110930",
          "GARD:0015946",
          "MEDGEN:815539",
          "NCIT:C129871",
          "OMIM:615348",
          "UMLS:C3809209"
        ],
        "synonyms": [
          "KLHL40 nemaline myopathy",
          "NEM8",
          "nemaline myopathy 8",
          "nemaline myopathy caused by mutation in KLHL40",
          "nemaline myopathy type 8"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014138"
    },
    {
      "id": 15329,
      "label": "nemaline myopathy 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16496,
        16497,
        16498
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110929",
          "GARD:0016007",
          "MEDGEN:816714",
          "OMIM:615731",
          "UMLS:C3810384"
        ],
        "synonyms": [
          "KLHL41 nemaline myopathy",
          "NEM9",
          "nemaline myopathy 9",
          "nemaline myopathy caused by mutation in KLHL41",
          "nemaline myopathy type 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014326"
    },
    {
      "id": 15512,
      "label": "nemaline myopathy 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16495,
        16497
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110931",
          "GARD:0016066",
          "MEDGEN:863797",
          "OMIM:616165",
          "UMLS:C4015360"
        ],
        "synonyms": [
          "LMOD3 nemaline myopathy",
          "NEM10",
          "nemaline myopathy 10",
          "nemaline myopathy caused by mutation in LMOD3",
          "nemaline myopathy type 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014513"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16780,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of alpha-actin"
    },
    {
      "id": 16781,
      "label": "neuromuscular disease caused by qualitative or quantitative defects of nebulin"
    },
    {
      "id": 18880,
      "label": "nemaline myopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}