{
  "id": 29252,
  "label": "congenital myasthenic syndrome 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1040021",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        18862
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0020344"
    }
  ],
  "children": [
    {
      "id": 12696,
      "label": "congenital myasthenic syndrome 4A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        29252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110678",
          "GARD:0015387",
          "MEDGEN:908188",
          "OMIM:605809",
          "UMLS:C4225413"
        ],
        "synonyms": [
          "CMS4A",
          "congenital myasthenic syndrome type 4A",
          "Cms Ia1",
          "Cms Ia1, formerly",
          "congenital myasthenic syndrome type Ia1",
          "congenital myasthenic syndrome type Ia1, formerly",
          "myasthenic syndrome, congenital, 4A, slow-channel"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A congenital myasthenic syndrome characterized by 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 or rarely biallelic mutation in the CHRNE gene on chromosome 17p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011600"
    },
    {
      "id": 13220,
      "label": "congenital myasthenic syndrome 4C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        29252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110679",
          "GARD:0010108",
          "MEDGEN:373251",
          "OMIM:608931",
          "UMLS:C1837091"
        ],
        "synonyms": [
          "CMS4C",
          "congenital myasthenic syndrome type 4C",
          "Cms Id",
          "Cms Id, formerly",
          "congenital myasthenic syndrome associated with acetylcholine receptor deficiency",
          "myasthenia, familial infantile, 1",
          "myasthenia, familial infantile, 1, formerly",
          "myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency",
          "myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency",
          "myasthenic syndrome, congenital, type Id"
        ],
        "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 homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012157"
    },
    {
      "id": 15584,
      "label": "congenital myasthenic syndrome 4B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        29252
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110677",
          "GARD:0016087",
          "MEDGEN:904424",
          "OMIM:616324",
          "UMLS:C4225369"
        ],
        "synonyms": [
          "CMS4B",
          "congenital myasthenic syndrome type 4B",
          "myasthenic syndrome, congenital, 4B, 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, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has material basis in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014586"
    }
  ],
  "roots": [
    {
      "id": 19809,
      "label": "postsynaptic congenital myasthenic syndrome"
    }
  ]
}