{
  "id": 29295,
  "label": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:1060108",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    }
  ],
  "children": [
    {
      "id": 15511,
      "label": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        29295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070061",
          "GARD:0017740",
          "OMIM:616158",
          "Orphanet:438216"
        ],
        "synonyms": [
          "MRD31",
          "PURA syndrome",
          "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation",
          "autosomal dominant intellectual disability 31",
          "intellectual disability, autosomal dominant type 31",
          "mental retardation, autosomal dominant type 31",
          "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties",
          "autosomal dominant non-syndromic intellectual disability 31",
          "intellectual disability, autosomal dominant 31",
          "mental retardation, autosomal dominant 31"
        ],
        "definition": "A rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014512"
    },
    {
      "id": 18032,
      "label": "severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        17323,
        29295
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017811"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    }
  ]
}