{
  "id": 24306,
  "label": "TOR1AIP1-related myopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100582",
  "properties": {
    "xrefs": [
      "GARD:0027277"
    ],
    "synonyms": [
      "TOR1AIP1-related limb-girdle muscular dystrophy",
      "autosomal recessive limb-girdle muscular dystrophy type 2Y",
      "muscular dystrophy autosomal recessive with rigid spine and distal joint contractures"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A congenital myopathy in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene. May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": 24326,
      "label": "TOR1AIP1-related nuclear envelopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "definition": "A hereditary disease that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100604"
    }
  ],
  "children": [
    {
      "id": 15880,
      "label": "autosomal recessive limb-girdle muscular dystrophy type 2Y",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16084,
        24306
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110289",
          "GARD:0017708",
          "MEDGEN:1385152",
          "NCIT:C181000",
          "OMIM:617072",
          "Orphanet:424261",
          "SCTID:725907002",
          "UMLS:C4511482"
        ],
        "synonyms": [
          "LGMD2Y",
          "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy",
          "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1",
          "autosomal recessive muscular dystrophy due to LAP1B deficiency",
          "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency",
          "muscular dystrophy with progressive weakness, distal contractures and rigid spine",
          "muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014900"
    }
  ],
  "roots": [
    {
      "id": 19669,
      "label": "congenital myopathy"
    },
    {
      "id": 24326,
      "label": "TOR1AIP1-related nuclear envelopathy"
    }
  ]
}