{
  "id": 20273,
  "label": "hereditary hyperekplexia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021022",
  "properties": {
    "xrefs": [
      "DOID:0060695",
      "GARD:0003129",
      "MEDGEN:904633",
      "OMIMPS:149400",
      "Orphanet:3197",
      "SCTID:724351008",
      "UMLS:C4084968",
      "icd11.foundation:988250063"
    ],
    "synonyms": [
      "hyperekplexia",
      "Kok disease",
      "Stiff baby syndrome",
      "congenital stiff man syndrome",
      "familial startle disease",
      "hereditary hyperekplexia",
      "hereditary hyperexplexia",
      "hyperexplexia hereditary"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 17915,
      "label": "hyperekplexia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7073
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021281",
          "MEDGEN:488800",
          "MESH:D000071017",
          "Orphanet:306773",
          "UMLS:C0234166"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurologic disorder classically characterized by pronounced startle responses to tactile or acoustic stimuli and hypertonia"
      },
      "child_count": 2,
      "reference_id": "MONDO:0017658"
    },
    {
      "id": 19114,
      "label": "metabolic disease involving other neurotransmitter deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19112
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018979",
          "MEDGEN:1843271",
          "Orphanet:79219",
          "UMLS:C5681275",
          "icd11.foundation:946446904"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0019253"
    },
    {
      "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": [
    {
      "id": 9204,
      "label": "hyperekplexia 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060696",
          "GARD:0024583",
          "MEDGEN:1647581",
          "OMIM:149400",
          "UMLS:C4551954"
        ],
        "synonyms": [
          "HKPX1",
          "hyperekplexia 1",
          "hyperekplexia type 1",
          "hyperekplexia, hereditary type 1",
          "Kok disease",
          "Sthe",
          "Stiff-Man syndrome, congenital",
          "Stiff-Person syndrome, congenital",
          "Stiff-baby syndrome",
          "exaggerated startle reaction",
          "hyperekplexia, hereditary 1",
          "startle disease, familial",
          "startle reaction, exaggerated"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A hyperekplexia that has material basis in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007868"
    },
    {
      "id": 11539,
      "label": "developmental and epileptic encephalopathy, 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16759,
        20273,
        23814,
        23890
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080215",
          "GARD:0017010",
          "MEDGEN:375581",
          "MESH:C564474",
          "OMIM:300607",
          "Orphanet:163985",
          "UMLS:C1845102"
        ],
        "synonyms": [
          "DEE8",
          "EIEE8",
          "developmental and epileptic encephalopathy 8",
          "epileptic encephalopathy, early infantile, 8",
          "epileptic encephalopathy, early infantile, type 8",
          "hyperekplexia-epilepsy syndrome",
          "hyperekplexia and epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010375"
    },
    {
      "id": 14841,
      "label": "hyperekplexia 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060698",
          "GARD:0015825",
          "MEDGEN:766202",
          "OMIM:614618",
          "UMLS:C3553288"
        ],
        "synonyms": [
          "HKPX3",
          "SLC6A5 hereditary hyperekplexia",
          "hereditary hyperekplexia caused by mutation in SLC6A5",
          "hyperekplexia 3",
          "hyperekplexia type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013827"
    },
    {
      "id": 14842,
      "label": "hyperekplexia 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060697",
          "GARD:0015826",
          "MEDGEN:766205",
          "OMIM:614619",
          "UMLS:C3553291"
        ],
        "synonyms": [
          "GLRB hereditary hyperekplexia",
          "HKPX2",
          "hereditary hyperekplexia caused by mutation in GLRB",
          "hyperekplexia 2",
          "hyperekplexia type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013828"
    },
    {
      "id": 23333,
      "label": "hyperekplexia 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20273
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080581",
          "GARD:0016284",
          "MEDGEN:1642659",
          "OMIM:618011",
          "UMLS:C4693933"
        ],
        "synonyms": [
          "hyperekplexia 4",
          "HKPX4"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by {2:Piard et al., 2018}).nnFor a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM:149400)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0044330"
    }
  ],
  "roots": [
    {
      "id": 17915,
      "label": "hyperekplexia"
    },
    {
      "id": 19114,
      "label": "metabolic disease involving other neurotransmitter deficiency"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}