{
  "id": 18032,
  "label": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017811",
  "properties": {
    "xrefs": [
      "GARD:0021383",
      "MEDGEN:1636705",
      "Orphanet:314655",
      "SCTID:768555009",
      "UMLS:C4708510"
    ],
    "synonyms": [
      "5q31.3 microdeletion syndrome",
      "Del(5)(q31.3)",
      "monosomy 5q31.3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare, genetic neurological disease in which the cause of the disease is a 5q31.3 deletion encompassing all or part of PURA gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:262038",
          "icd11.foundation:285885131"
        ],
        "synonyms": [
          "partial deletion of chromosome 5q",
          "partial deletion of the long arm of chromosome type 5",
          "partial monosomy of chromosome 5q",
          "partial monosomy of the long arm of chromosome 5"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016904"
    },
    {
      "id": 29295,
      "label": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2903,
        16087
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027440",
          "MEDGEN:863794",
          "Orphanet:438213",
          "UMLS:C4015357"
        ],
        "synonyms": [
          "PURA-related neurodevelopmental disorders",
          "PURA syndrome"
        ],
        "definition": "A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities."
      },
      "child_count": 4,
      "reference_id": "MONDO:1060108"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5"
    },
    {
      "id": 29295,
      "label": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"
    }
  ]
}