{
  "id": 19209,
  "label": "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019375",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 3395,
      "label": "hydrocephalus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10908",
          "ICD10CM:G91",
          "ICD10WHO:G91",
          "MEDGEN:9335",
          "MESH:D006849",
          "NCIT:C3111",
          "SCTID:230745008",
          "UMLS:C0020255",
          "icd11.foundation:574533444"
        ],
        "synonyms": [
          "hydrocephalus, X-linked",
          "hydrocephalus, nonsyndromic, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disorder characterized by an abnormal increase of cerebrospinal fluid in the ventricles of the brain."
      },
      "child_count": 7,
      "reference_id": "MONDO:0001150"
    },
    {
      "id": 12458,
      "label": "non-syndromic polydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20259
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MedDRA:10036063",
          "Orphanet:2913",
          "icd11.foundation:1534380955"
        ],
        "synonyms": [
          "isolated polydactyly (disease)",
          "nonsyndromic polydactyly",
          "nonsyndromic polydactyly (disease)",
          "Extra digits",
          "isolated polydactyly",
          "polydactylia",
          "supernumerary digits"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits."
      },
      "child_count": 10,
      "reference_id": "MONDO:0011348"
    },
    {
      "id": 24020,
      "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19709
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026123"
        ],
        "synonyms": [
          "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease caused by mosaic gain-of-function (GoF) of several genes in the MTOR pathway (MTOR, PIK3CA, PIK3R2 and AKT3) are functionally the same despite significant phenotypic variability. These GoF variants result in overgrowth due to an over-activation of key genes in this pathway. The phenotypic variability is generally attributed to the mosaic fraction and affected tissue types. For example, macrocephaly is noted if the variant is identified in the brain, but non symmetric overgrowth of that limb is noted when the variant is only present in the affected limb. The pathologies of the affected tissue often reveal similar characteristics such as cellular overgrowth. However, this is not always the case especially with focal cortical dysplasia. At times the characteristics pathologies are not present in the tissue but sampling biases are an issue. FCD resections often involve a very small area and so a very small amount of tissue is available for pathology and it is not guaranteed that lesional tissue is sent. Therefore, having a single disease term which can encompass the phenotypic variability yet provide a unifying molecular diagnosis name makes sense given the common functional mechanism."
      },
      "child_count": 5,
      "reference_id": "MONDO:0100283"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "id": 29234,
      "label": "PIK3CA-related overgrowth spectrum",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19480
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027113",
          "MEDGEN:1790024",
          "UMLS:C4728213"
        ],
        "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 PIK3CA gene. The variants can be germline or somatic"
      },
      "child_count": 5,
      "reference_id": "MONDO:1040002"
    }
  ],
  "children": [
    {
      "id": 12428,
      "label": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19209,
        29236
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011313"
    },
    {
      "id": 15409,
      "label": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19209,
        25069
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018078",
          "MEDGEN:863175",
          "OMIM:615937",
          "UMLS:C4014738"
        ],
        "synonyms": [
          "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",
          "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2",
          "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2",
          "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3",
          "MPPH2"
        ],
        "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 AKT3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014407"
    },
    {
      "id": 15410,
      "label": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19209
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018079",
          "MEDGEN:863179",
          "OMIM:615938",
          "UMLS:C4014742"
        ],
        "synonyms": [
          "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome",
          "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3",
          "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3",
          "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2",
          "MPPH3"
        ],
        "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 CCND2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014408"
    }
  ],
  "roots": [
    {
      "id": 3395,
      "label": "hydrocephalus"
    },
    {
      "id": 12458,
      "label": "non-syndromic polydactyly"
    },
    {
      "id": 24020,
      "label": "overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 29234,
      "label": "PIK3CA-related overgrowth spectrum"
    }
  ]
}