{
  "id": 19809,
  "label": "postsynaptic congenital myasthenic syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020344",
  "properties": {
    "xrefs": [
      "GARD:0015022",
      "MEDGEN:199758",
      "Orphanet:98913",
      "UMLS:C0751883"
    ],
    "synonyms": [
      "postsynaptic congenital myasthenic syndromes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "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": 10904,
      "label": "congenital myasthenic syndrome 10",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19667,
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110638",
          "DOID:0110668",
          "GARD:0015206",
          "ICD9:358.00",
          "MEDGEN:376880",
          "MESH:C563716",
          "OMIM:254300",
          "OMIM:609456",
          "SCTID:230687001",
          "UMLS:C1850792"
        ],
        "synonyms": [
          "CMS10",
          "DOK7 congenital myasthenic syndrome",
          "congenital muscular dystrophy merosin-positive",
          "congenital myasthenic syndrome 10",
          "congenital myasthenic syndrome caused by mutation in DOK7",
          "congenital myasthenic syndrome type 10",
          "myasthenic syndrome, congenital, type 10",
          "CMS Ib",
          "CMS1B",
          "Cms Ib",
          "Cms Ib, formerly",
          "congenital myasthenic syndrome type IB",
          "congenital myasthenic syndrome type IB, formerly",
          "muscular dystrophy, congenital, merosin-POSITIVE",
          "myasthenia, limb-girdle, familial",
          "myasthenia, limb-girdle, familial, formerly",
          "myasthenic myopathy",
          "myasthenic myopathy, formerly",
          "myasthenic syndrome, congenital, 10"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the DOK7 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009690"
    },
    {
      "id": 12214,
      "label": "congenital myasthenic syndrome 1A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110663",
          "GARD:0015330",
          "MEDGEN:419336",
          "OMIM:601462",
          "UMLS:C2931107"
        ],
        "synonyms": [
          "CHRNA1 congenital myasthenic syndrome",
          "CMS1A",
          "congenital myasthenic syndrome caused by mutation in CHRNA1",
          "congenital myasthenic syndrome type 1A",
          "Cms IIa",
          "Cms IIa, formerly",
          "myasthenic syndrome, congenital, 1A, slow-channel",
          "myasthenic syndrome, congenital, type IIa",
          "myasthenic syndrome, congenital, type IIa, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene."
      },
      "child_count": 1,
      "reference_id": "MONDO:0011088"
    },
    {
      "id": 14645,
      "label": "congenital myasthenic syndrome 16",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809,
        23870
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110682",
          "GARD:0015771",
          "MEDGEN:481742",
          "OMIM:614198",
          "UMLS:C3280112"
        ],
        "synonyms": [
          "CMS16",
          "SCN4A congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in SCN4A",
          "congenital myasthenic syndrome type 16",
          "myasthenic syndrome, congenital, type 16",
          "myasthenic syndrome, congenital, 16",
          "myasthenic syndrome, congenital, Acetazolamide-responsive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013620"
    },
    {
      "id": 15062,
      "label": "congenital myasthenic syndrome 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110657",
          "GARD:0015908",
          "MEDGEN:815069",
          "OMIM:615120",
          "UMLS:C3808739"
        ],
        "synonyms": [
          "AGRN congenital myasthenic syndrome",
          "CMS8",
          "congenital myasthenic syndrome 8",
          "congenital myasthenic syndrome caused by mutation in AGRN",
          "congenital myasthenic syndrome type 8",
          "myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects",
          "myasthenic syndrome, congenital, type 8",
          "myasthenic syndrome, congenital, 8",
          "myasthenic syndrome, congenital, due to agrin deficiency",
          "myasthenic syndrome, congenital, with Pre- and postsynaptic defects"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014052"
    },
    {
      "id": 15576,
      "label": "congenital myasthenic syndrome 17",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110674",
          "GARD:0016080",
          "MEDGEN:895078",
          "OMIM:616304",
          "UMLS:C4225377"
        ],
        "synonyms": [
          "CMS17",
          "LRP4 congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in LRP4",
          "congenital myasthenic syndrome type 17",
          "myasthenic syndrome, congenital, type 17",
          "myasthenic syndrome, congenital, 17"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014578"
    },
    {
      "id": 15579,
      "label": "congenital myasthenic syndrome 2A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110681",
          "GARD:0009895",
          "MEDGEN:908185",
          "OMIM:616313",
          "UMLS:C4225374"
        ],
        "synonyms": [
          "CMS2A",
          "congenital myasthenic syndrome type 2A",
          "CMS IIa",
          "SCCMS",
          "myasthenic syndrome, congenital, 2A, slow-channel",
          "myasthenic syndrome, congenital, postsynaptic slow-channel",
          "myasthenic syndrome, congenital, slow-channel",
          "myasthenic syndrome, congenital, type IIa",
          "slow channel congenital myasthenic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has material basis in heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014581"
    },
    {
      "id": 15580,
      "label": "congenital myasthenic syndrome 2C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110680",
          "GARD:0016083",
          "MEDGEN:903254",
          "OMIM:616314",
          "UMLS:C4225373"
        ],
        "synonyms": [
          "CMS2C",
          "congenital myasthenic syndrome type 2C",
          "myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has material basis in ompound heterozygous mutation in the CHRNB1 gene on chromosome 17p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014582"
    },
    {
      "id": 15581,
      "label": "congenital myasthenic syndrome 3A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110666",
          "GARD:0016084",
          "MEDGEN:898378",
          "OMIM:616321",
          "UMLS:C4225372"
        ],
        "synonyms": [
          "CMS3A",
          "congenital myasthenic syndrome type 3A",
          "myasthenic syndrome, congenital, 3A, slow-channel"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has material basis in heterozygous mutation in the CHRND gene on chromosome 2q37."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014583"
    },
    {
      "id": 15582,
      "label": "congenital myasthenic syndrome 3B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110665",
          "GARD:0016085",
          "MEDGEN:909404",
          "OMIM:616322",
          "UMLS:C4225371"
        ],
        "synonyms": [
          "CMS3B",
          "congenital myasthenic syndrome type 3B",
          "myasthenic syndrome, congenital, 3B, FAST-channel"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014584"
    },
    {
      "id": 15583,
      "label": "congenital myasthenic syndrome 3C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110664",
          "GARD:0016086",
          "MEDGEN:903088",
          "OMIM:616323",
          "UMLS:C4225370"
        ],
        "synonyms": [
          "congenital myasthenic syndrome type 3C",
          "CMS3C",
          "myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014585"
    },
    {
      "id": 15585,
      "label": "congenital myasthenic syndrome 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110670",
          "GARD:0016088",
          "MEDGEN:895641",
          "OMIM:616325",
          "UMLS:C4225368"
        ],
        "synonyms": [
          "CMS9",
          "MUSK congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in MUSK",
          "congenital myasthenic syndrome type 9",
          "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014587"
    },
    {
      "id": 15586,
      "label": "congenital myasthenic syndrome 11",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110675",
          "GARD:0016089",
          "MEDGEN:902189",
          "MESH:C563831",
          "OMIM:616326",
          "UMLS:C4225367"
        ],
        "synonyms": [
          "CMS11",
          "RAPSN congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in RAPSN",
          "congenital myasthenic syndrome type 11",
          "Cms Ie",
          "Cms Ie, formerly",
          "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency",
          "myasthenic syndrome, congenital, Ie",
          "myasthenic syndrome, congenital, Ie, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the RAPSN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014588"
    },
    {
      "id": 15737,
      "label": "congenital myasthenic syndrome 19",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19809,
        24775
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110673",
          "GARD:0016153",
          "MEDGEN:897962",
          "OMIM:616720",
          "UMLS:C4225235"
        ],
        "synonyms": [
          "CMS19",
          "COL13A1 congenital myasthenic syndrome",
          "congenital myasthenic syndrome caused by mutation in COL13A1",
          "congenital myasthenic syndrome type 19",
          "myasthenic syndrome, congenital, 19",
          "myasthenic syndrome, congenital, type 19"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014745"
    },
    {
      "id": 29252,
      "label": "congenital myasthenic syndrome 4",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19809
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027234"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any postsynaptic congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNE gene."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040021"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 18862,
      "label": "congenital myasthenic syndrome"
    }
  ]
}