{
  "id": 14653,
  "label": "hyperphosphatasia with intellectual disability syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013628",
  "properties": {
    "xrefs": [
      "DOID:0070435",
      "GARD:0018350",
      "MEDGEN:481783",
      "OMIM:614207",
      "UMLS:C3280153"
    ],
    "synonyms": [
      "PGAP2 hyperphosphatasia-intellectual disability syndrome",
      "hyperphosphatasia with intellectual disability syndrome 3",
      "hyperphosphatasia with intellectual disability syndrome type 3",
      "hyperphosphatasia with mental retardation syndrome 3",
      "hyperphosphatasia with mental retardation syndrome type 3",
      "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2",
      "HPMRS3",
      "glycosylphosphatidylinositol biosynthesis defect 8",
      "intellectual disability, autosomal recessive 17",
      "intellectual disability, autosomal recessive 21",
      "mental retardation, autosomal recessive 17",
      "mental retardation, autosomal recessive 21"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17083,
      "label": "hyperphosphatasia-intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        16607,
        17977,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070431",
          "GARD:0017188",
          "MEDGEN:383800",
          "OMIMPS:239300",
          "Orphanet:247262",
          "SCTID:33982008",
          "UMLS:C1855923"
        ],
        "synonyms": [
          "HPMR",
          "Mabry syndrome",
          "hyperphosphatasia with intellectual disability syndrome",
          "hyperphosphatasia with mental retardation syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0016596"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17083,
      "label": "hyperphosphatasia-intellectual disability syndrome"
    }
  ]
}