{
  "id": 2761,
  "label": "congenital myasthenic syndrome with tubular aggregates",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000182",
  "properties": {
    "xrefs": [
      "GARD:0022723",
      "OMIMPS:610542"
    ],
    "synonyms": [
      "CMS-TA",
      "myasthenic syndrome, congenital, with tubular aggregates"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital myasthenic syndrome with a finding of tubular aggregates in myofibers."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "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": 18862,
      "label": "congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19747,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3635",
          "GARD:0011902",
          "ICD9:358.00",
          "ICD9:V17.89",
          "MEDGEN:155650",
          "MESH:D020294",
          "NANDO:1200021",
          "NCIT:C84647",
          "NORD:1893",
          "OMIMPS:601462",
          "Orphanet:590",
          "SCTID:230672006",
          "UMLS:C0751882",
          "icd11.foundation:1515367530"
        ],
        "synonyms": [
          "CMS",
          "Congenital Myasthenic Syndromes",
          "myasthenic syndrome, congenital",
          "congenital MG",
          "congenital myasthenia",
          "erb-Goldflam syndrome",
          "familial limb-girdle myasthenia",
          "myasthenia gravis congenital",
          "myasthenia gravis pseudoparalytica"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Congenital myasthenic syndrome (CMS) is a group of genetic disorders of impaired neuromuscular transmission at the motor endplate characterized by fatigable muscle weakness."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018940"
    }
  ],
  "children": [
    {
      "id": 13566,
      "label": "congenital myasthenic syndrome 12",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2761,
        21354
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110660",
          "GARD:0018451",
          "MEDGEN:765249",
          "NCIT:C168997",
          "OMIM:610542",
          "UMLS:C3552335"
        ],
        "synonyms": [
          "CMS12",
          "GFPT1 congenital myasthenic syndromes with glycosylation defect",
          "congenital myasthenic syndrome type 12",
          "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1",
          "myasthenia, congenital, 12, with tubular aggregates",
          "myasthenic syndrome, congenital, type 12",
          "myasthenic syndrome, congenital, 12",
          "myasthenic syndrome, congenital, with tubular aggregates 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the GFPT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012518"
    },
    {
      "id": 14895,
      "label": "congenital myasthenic syndrome 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110676",
          "GARD:0018452",
          "MEDGEN:766559",
          "OMIM:614750",
          "UMLS:C3553645"
        ],
        "synonyms": [
          "CMS13",
          "CMSTA2",
          "DPAGT1 congenital myasthenic syndromes with glycosylation defect",
          "congenital myasthenic syndrome type 13",
          "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1",
          "myasthenic syndrome, congenital, 13, with tubular aggregates",
          "myasthenic syndrome, congenital, type 13",
          "myasthenic syndrome, congenital, 13",
          "myasthenic syndrome, congenital, with tubular aggregates 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the DPAGT1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013883"
    },
    {
      "id": 15542,
      "label": "congenital myasthenic syndrome 14",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2761,
        13007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110669",
          "GARD:0018454",
          "MEDGEN:864034",
          "OMIM:616228",
          "UMLS:C4015597"
        ],
        "synonyms": [
          "ALG2 congenital myasthenic syndromes with glycosylation defect",
          "CMS14",
          "CMSTA3",
          "congenital myasthenic syndrome 14",
          "congenital myasthenic syndrome type 14",
          "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2",
          "myasthenic syndrome, congenital, 14, with tubular aggregates",
          "myasthenic syndrome, congenital, type 14",
          "myasthenic syndrome, congenital, 14",
          "myasthenic syndrome, congenital, with tubular aggregates 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014543"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 18862,
      "label": "congenital myasthenic syndrome"
    }
  ]
}