{
  "id": 17092,
  "label": "megalencephaly",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016608",
  "properties": {
    "xrefs": [
      "GARD:0016601",
      "HP:0001355",
      "ICD10CM:Q04.5",
      "ICD9:742.4",
      "MEDGEN:65141",
      "MESH:D058627",
      "MedDRA:10050183",
      "Orphanet:2477",
      "SCTID:9740002",
      "UMLS:C0221355",
      "icd11.foundation:368780653"
    ],
    "synonyms": [
      "macroencephaly",
      "megalencephaly",
      "megalencephaly (disease)"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with hydrocephalus; subdural effusion; arachnoid cysts; or is part of a genetic condition (e.g., alexander disease; sotos syndrome)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [
    {
      "id": 9289,
      "label": "megalencephaly, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024590",
          "MEDGEN:812057",
          "OMIM:155350",
          "UMLS:C3805727"
        ],
        "synonyms": [
          "megalencephaly, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007961"
    },
    {
      "id": 10766,
      "label": "macrocephaly/megalencephaly syndrome, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17092,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024680",
          "MEDGEN:812742",
          "MESH:C537453",
          "OMIM:248000",
          "UMLS:C3806412"
        ],
        "synonyms": [
          "macrocephaly/megalencephaly syndrome, autosomal recessive",
          "Fryns Dereymaeker Haegeman syndrome",
          "MGCPH",
          "intellectual disability, macrocephaly, short stature and craniofacial dysmorphism",
          "mental retardation, macrocephaly, short stature and craniofacial dysmorphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009544"
    },
    {
      "id": 17467,
      "label": "isolated megalencephaly",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020977",
          "MEDGEN:439426",
          "Orphanet:268920",
          "UMLS:C2720434"
        ],
        "synonyms": [
          "isolated macrencephaly",
          "isolated megalencephaly (disease)",
          "nonsyndromic megalencephaly (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A megalencephaly (disease) that is not part of a larger syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017089"
    },
    {
      "id": 20796,
      "label": "bagatelle Cassidy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        6982,
        17092
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000398",
          "MEDGEN:444100",
          "MESH:C537796",
          "UMLS:C2931616"
        ],
        "synonyms": [
          "macrocephaly short limbs deafness",
          "macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0021964"
    }
  ],
  "roots": [
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}