{
  "id": 11837,
  "label": "nystagmus 1, congenital, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010693",
  "properties": {
    "xrefs": [
      "DOID:0111790",
      "GARD:0027796",
      "MEDGEN:333352",
      "MESH:C537853",
      "OMIM:310700",
      "UMLS:C1839580"
    ],
    "synonyms": [
      "FRMD7 congenital nystagmus",
      "congenital nystagmus caused by mutation in FRMD7",
      "nystagmus 1, congenital, X-linked",
      "NYS1",
      "NYSTAGMUS 1, congenital, X-linked",
      "Nystagmus 1, congenital, X- linked",
      "Nystagmus 1, infantile, X-linked",
      "Nystagmus, congenital motor, 1",
      "Nystagmus, infantile idiopathic",
      "Nystagmus, infantile idiopathic, formerly",
      "Nystagmus, infantile periodic alternating, X-linked",
      "Xlpan"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7341,
      "label": "congenital nystagmus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        6600,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9649",
          "EFO:0007217",
          "HP:0000639",
          "ICD10CM:H55.01",
          "ICD9:379.51",
          "MEDGEN:195995",
          "MESH:D020417",
          "OMIMPS:310700",
          "Orphanet:651",
          "SCTID:64635004",
          "UMLS:C0700501",
          "icd11.foundation:1626567380"
        ],
        "synonyms": [
          "nystagmus",
          "congenital idiopathic nystagmus",
          "congenital pathologic nystagmus",
          "motor congenital nystagmus",
          "nystagmus, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with albinism and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)"
      },
      "child_count": 30,
      "reference_id": "MONDO:0005712"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7341,
      "label": "congenital nystagmus"
    }
  ]
}