{
  "id": 10766,
  "label": "macrocephaly/megalencephaly syndrome, autosomal recessive",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009544",
  "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"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17092,
      "label": "megalencephaly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7209,
        20383
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0016608"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17092,
      "label": "megalencephaly"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}