{
  "id": 17083,
  "label": "hyperphosphatasia-intellectual disability syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016596",
  "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"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        4594
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020232",
          "MEDGEN:1826171",
          "Orphanet:181437",
          "SCTID:109041000119107",
          "UMLS:C5680608"
        ],
        "synonyms": [
          "complex dyslipidaemia",
          "complex dyslipidemia",
          "syndrome associated with inherited lipid metabolism disorder",
          "syndromic inherited lipid metabolism disorder",
          "rare syndromic dyslipidaemia",
          "rare syndromic dyslipidemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A inherited lipid metabolism disorder that is part of a larger syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015905"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4594,
        16168,
        21353
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021342",
          "MEDGEN:1842274",
          "Orphanet:309515",
          "UMLS:C5679954"
        ],
        "synonyms": [
          "disorder of glycosphingolipid and GPI-anchored proteins glycosylation",
          "disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
        ]
      },
      "child_count": 24,
      "reference_id": "MONDO:0017748"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 10630,
      "label": "hyperphosphatasia with intellectual disability syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17083
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009398"
    },
    {
      "id": 14653,
      "label": "hyperphosphatasia with intellectual disability syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17083
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013628"
    },
    {
      "id": 14894,
      "label": "hyperphosphatasia with intellectual disability syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070434",
          "GARD:0018351",
          "MEDGEN:766551",
          "OMIM:614749",
          "UMLS:C3553637"
        ],
        "synonyms": [
          "PIGO hyperphosphatasia-intellectual disability syndrome",
          "hyperphosphatasia with intellectual disability syndrome 2",
          "hyperphosphatasia with intellectual disability syndrome type 2",
          "hyperphosphatasia with mental retardation syndrome 2",
          "hyperphosphatasia with mental retardation syndrome type 2",
          "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO",
          "HPMRS2",
          "glycosylphosphatidylinositol biosynthesis defect 6"
        ],
        "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 PIGO gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013882"
    },
    {
      "id": 15321,
      "label": "hyperphosphatasia with intellectual disability syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070436",
          "GARD:0018352",
          "MEDGEN:816684",
          "OMIM:615716",
          "UMLS:C3810354"
        ],
        "synonyms": [
          "PGAP3 hyperphosphatasia-intellectual disability syndrome",
          "hyperphosphatasia with intellectual disability syndrome 4",
          "hyperphosphatasia with intellectual disability syndrome type 4",
          "hyperphosphatasia with mental retardation syndrome 4",
          "hyperphosphatasia with mental retardation syndrome type 4",
          "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3",
          "HPMRS4",
          "glycosylphosphatidylinositol biosynthesis defect 10"
        ],
        "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 PGAP3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014318"
    },
    {
      "id": 15457,
      "label": "hyperphosphatasia with intellectual disability syndrome 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070432",
          "GARD:0018353",
          "MEDGEN:863395",
          "OMIM:616025",
          "UMLS:C4014958"
        ],
        "synonyms": [
          "PIGW hyperphosphatasia-intellectual disability syndrome",
          "hyperphosphatasia with intellectual disability syndrome 5",
          "hyperphosphatasia with intellectual disability syndrome type 5",
          "hyperphosphatasia with mental retardation syndrome 5",
          "hyperphosphatasia with mental retardation syndrome type 5",
          "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW",
          "GPIBD11",
          "HPMRS5",
          "glycosylphosphatidylinositol biosynthesis defect 11"
        ],
        "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 PIGW gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014457"
    },
    {
      "id": 15769,
      "label": "hyperphosphatasia with intellectual disability syndrome 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17083
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070437",
          "GARD:0018354",
          "MEDGEN:906509",
          "OMIM:616809",
          "UMLS:C4225201"
        ],
        "synonyms": [
          "HPMRS6",
          "PIGY hyperphosphatasia-intellectual disability syndrome",
          "hyperphosphatasia with intellectual disability syndrome 6",
          "hyperphosphatasia with intellectual disability syndrome 6; HPMRS6",
          "hyperphosphatasia with intellectual disability syndrome type 6",
          "hyperphosphatasia with mental retardation syndrome 6",
          "hyperphosphatasia with mental retardation syndrome type 6",
          "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY",
          "glycosylphosphatidylinositol biosynthesis defect 12"
        ],
        "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 PIGY gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014780"
    }
  ],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 16607,
      "label": "syndromic dyslipidemia"
    },
    {
      "id": 17977,
      "label": "inborn disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}