{
  "id": 15350,
  "label": "intellectual disability, autosomal recessive 42",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014348",
  "properties": {
    "xrefs": [
      "GARD:0022564",
      "MEDGEN:862780",
      "OMIM:615802",
      "UMLS:C4014343"
    ],
    "synonyms": [
      "PGAP1 autosomal recessive non-syndromic intellectual disability",
      "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1",
      "intellectual disability, autosomal recessive 42",
      "intellectual disability, autosomal recessive type 42",
      "mental retardation, autosomal recessive type 42",
      "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities",
      "MRT42",
      "glycosylphosphatidylinositol biosynthesis defect 9",
      "mental retardation, autosomal recessive 42"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2962,
        17944,
        24319
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060308",
          "GARD:0018643",
          "MEDGEN:1826073",
          "OMIMPS:249500",
          "Orphanet:88616",
          "UMLS:C5680181"
        ],
        "synonyms": [
          "autosomal recessive intellectual disability",
          "intellectual disability, autosomal recessive",
          "AR-NSID",
          "NS-ARID",
          "autosomal recessive non-syndromic intellectual disability",
          "mental retardation, autosomal recessive",
          "non-syndromic intellectual disability, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal recessive form of non-syndromic intellectual disability."
      },
      "child_count": 204,
      "reference_id": "MONDO:0019502"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19320,
      "label": "autosomal recessive non-syndromic intellectual disability"
    }
  ]
}