{
  "id": 10375,
  "label": "Riley-Day syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009131",
  "properties": {
    "xrefs": [
      "DOID:11589",
      "GARD:0007581",
      "ICD10CM:G90.1",
      "MEDGEN:41678",
      "MESH:D004402",
      "MedDRA:10039179",
      "NCIT:C84706",
      "NORD:1069",
      "OMIM:223900",
      "Orphanet:1764",
      "SCTID:29159009",
      "UMLS:C0013364",
      "icd11.foundation:831377479"
    ],
    "synonyms": [
      "Dysautonomia, Familial",
      "HSAN 3",
      "HSAN III",
      "HSAN3",
      "HSN 3",
      "Riley Day syndrome",
      "Riley-Day syndrome",
      "familial dysautonomia",
      "hereditary sensory and autonomic neuropathy 3",
      "hereditary sensory and autonomic neuropathy type 3",
      "hereditary sensory and autonomic neuropathy type III",
      "hereditary sensory neuropathy type 3",
      "neuropathy, hereditary sensory and autonomic, type 3",
      "neuropathy, hereditary sensory and autonomic, type III",
      "dysautonomia, familial",
      "familial autonomic nervous dysfunction"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "A congenital disorder caused by mutations in the IKBKAP gene. It is characterized by damage of the sympathetic and parasympathetic and sensory nervous system."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    },
    {
      "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": 20691,
      "label": "neurocristopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}