{
  "id": 12360,
  "label": "megalencephaly-capillary malformation-polymicrogyria syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011240",
  "properties": {
    "xrefs": [
      "GARD:0006950",
      "ICD9:759.89",
      "MEDGEN:355421",
      "MESH:C536142",
      "NANDO:2200823",
      "NORD:1423",
      "OMIM:602501",
      "Orphanet:60040",
      "SCTID:703370002",
      "UMLS:C1865285"
    ],
    "synonyms": [
      "MCAP",
      "MCM",
      "MCMTC",
      "Megalencephaly-Capillary Malformation",
      "macrocephaly-capillary malformation syndrome",
      "macrocephaly-cutis marmorata telangiectatica congenita syndrome",
      "megalencephaly-capillary malformation syndrome",
      "megalencephaly-capillary malformation-polymicrogyria syndrome",
      "megalencephaly-capillary malformation-polymicrogyria syndrome, somatic",
      "megalencephaly-cutis marmorata telangiectatica congenita syndrome",
      "M-CM",
      "M-CMTC",
      "macrocephaly cutis marmorata telangiectatica congenita",
      "macrocephaly-capillary malformation",
      "macrocephaly-cutis marmorata telangiectatica congenita",
      "megalencephaly cutis marmorata telangiectatica congenita",
      "megalencephaly-cutis marmorata telangiectatica congenita",
      "megalocephaly cutis marmorata telangiectatica congenita"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "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"
    }
  ]
}