{
  "id": 15674,
  "label": "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014679",
  "properties": {
    "xrefs": [
      "GARD:0016130",
      "MEDGEN:899982",
      "OMIM:616531",
      "UMLS:C4225295"
    ],
    "synonyms": [
      "polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis",
      "PMGYCHA"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19807,
      "label": "bilateral perisylvian polymicrogyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17468
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080924",
          "GARD:0006011",
          "MEDGEN:337000",
          "Orphanet:98889",
          "UMLS:C1845668",
          "icd11.foundation:1882677643"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0020340"
    },
    {
      "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": 29244,
      "label": "PI4KA-related disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027233"
        ],
        "definition": "Any human disease in which the cause of the disease is a variation in the PI4KA gene. This disease is characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria."
      },
      "child_count": 3,
      "reference_id": "MONDO:1040012"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19807,
      "label": "bilateral perisylvian polymicrogyria"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 29244,
      "label": "PI4KA-related disorder"
    }
  ]
}