{
  "id": 14302,
  "label": "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013266",
  "properties": {
    "xrefs": [
      "DOID:0070050",
      "GARD:0024910",
      "MEDGEN:462050",
      "NORD:2013",
      "OMIM:613443",
      "Orphanet:664410",
      "UMLS:C3150700"
    ],
    "synonyms": [
      "MEF2C Deficiency",
      "MEF2C autosomal dominant non-syndromic intellectual disability",
      "MEF2C haploinsufficiency syndrome (MCHS)",
      "MEF2C-related neurodevelopmental disorder",
      "MEF2C-related syndrome",
      "MRD20",
      "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C",
      "intellectual disability, autosomal dominant 20",
      "intellectual disability, autosomal dominant type 20",
      "mental retardation, autosomal dominant 20",
      "mental retardation, autosomal dominant type 20",
      "neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language",
      "intellectual disability, stereotypic movements, epilepsy, and/or cerebral malformations",
      "mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16555,
      "label": "autosomal dominant non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        23914
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060307",
          "GARD:0012107",
          "MEDGEN:1826082",
          "Orphanet:178469",
          "UMLS:C5680502"
        ],
        "synonyms": [
          "autosomal dominant mental retardation",
          "autosomal dominant non-syndromic intellectual disability",
          "non-syndromic intellectual disability, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of non-syndromic intellectual disability."
      },
      "child_count": 52,
      "reference_id": "MONDO:0015802"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16555,
      "label": "autosomal dominant non-syndromic intellectual disability"
    }
  ]
}