{
  "id": 10630,
  "label": "hyperphosphatasia with intellectual disability syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009398",
  "properties": {
    "xrefs": [
      "DOID:0070433",
      "GARD:0018349",
      "MEDGEN:1647044",
      "OMIM:239300",
      "UMLS:C4551502"
    ],
    "synonyms": [
      "PIGV hyperphosphatasia-intellectual disability syndrome",
      "hyperphosphatasia with intellectual disability syndrome 1",
      "hyperphosphatasia with intellectual disability syndrome type 1",
      "hyperphosphatasia with mental retardation syndrome 1",
      "hyperphosphatasia with mental retardation syndrome type 1",
      "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV",
      "HPMRS1",
      "Mabry syndrome",
      "glycosylphosphatidylinositol biosynthesis defect 2"
    ],
    "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 PIGV 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"
    }
  ]
}