{
  "id": 12428,
  "label": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011313",
  "properties": {
    "xrefs": [
      "GARD:0018077",
      "MEDGEN:861164",
      "MESH:C566381",
      "OMIM:603387",
      "UMLS:C4012727"
    ],
    "synonyms": [
      "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",
      "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1",
      "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1",
      "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2",
      "MPPH1",
      "Meg-PMG-Megacc syndrome",
      "megalencephaly, mega corpus callosum, and complete lack of motor development",
      "megalencephaly, polymicrogyria, mega corpus callosum syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the PIK3R2 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19209,
      "label": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3395,
        12458,
        24020,
        24270,
        29234
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010341",
          "MEDGEN:355095",
          "OMIMPS:603387",
          "Orphanet:83473",
          "SCTID:722036008",
          "UMLS:C1863924"
        ],
        "synonyms": [
          "MPPH syndrome",
          "megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus",
          "megalencephaly, polymicrogyria, and hydrocephalus (MPPH) syndrome",
          "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome is characterized by megalencephaly, polymicrogyria, and hydrocephalus with variable polydactyly. It has been described in six unrelated patients. Intellectual deficit or slow development is also present. The mode of inheritance of this syndrome is unknown since all cases were sporadic."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019375"
    },
    {
      "id": 29236,
      "label": "PIK3R2-related overgrowth spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027114"
        ],
        "synonyms": [
          "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
        ],
        "definition": "Any overgrowth syndrome resulting from pathogenic gain-of-function variants in the PIK3R2 gene. The variants can be germline or somatic"
      },
      "child_count": 1,
      "reference_id": "MONDO:1040004"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19209,
      "label": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome"
    },
    {
      "id": 29236,
      "label": "PIK3R2-related overgrowth spectrum"
    }
  ]
}