{
  "id": 7341,
  "label": "congenital nystagmus",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0005712",
  "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)"
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 10,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 6600,
      "label": "pathologic nystagmus",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3785
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9650",
          "ICD9:379.50",
          "MEDGEN:45166",
          "MESH:D009759",
          "UMLS:C0028738"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Involuntary movements of the eyeballs. The presence or absence of nystagmus is often used in the diagnosis of a variety of neurological and visual disorders."
      },
      "child_count": 3,
      "reference_id": "MONDO:0004843"
    },
    {
      "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": 9424,
      "label": "nystagmus 2, congenital, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111792",
          "MEDGEN:331657",
          "MESH:C537854",
          "OMIM:164100",
          "UMLS:C1834079"
        ],
        "synonyms": [
          "NYS2",
          "NYSTAGMUS 2, congenital, autosomal dominant",
          "Nystagmus congenital, motor 2",
          "Nystagmus, congenital motor, 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008106"
    },
    {
      "id": 9425,
      "label": "nystagmus, hereditary vertical",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:322336",
          "MESH:C537857",
          "OMIM:164150",
          "UMLS:C1834078"
        ],
        "synonyms": [
          "nystagmus, hereditary vertical",
          "congenital hereditary vertical nystagmus",
          "hereditary vertical nystagmus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008107"
    },
    {
      "id": 9935,
      "label": "spinocerebellar ataxia 27A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341,
        19840
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009603",
          "MESH:C537856",
          "OMIM:193003"
        ],
        "synonyms": [
          "NYS4",
          "NYSTAGMUS 4, congenital, autosomal dominant",
          "nystagmus 4, congenital, autosomal dominant",
          "vestibulocerebellar disorder with predominant ocular signs"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008654"
    },
    {
      "id": 10972,
      "label": "nystagmus, congenital, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061178",
          "GARD:0009609",
          "MEDGEN:462921",
          "MESH:C564938",
          "OMIM:257400",
          "UMLS:C3151571"
        ],
        "synonyms": [
          "nystagmus, congenital, autosomal recessive",
          "Nystagmus, congenital motor, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009762"
    },
    {
      "id": 11534,
      "label": "nystagmus 5, congenital, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111796",
          "MEDGEN:375583",
          "OMIM:300589",
          "UMLS:C1845116"
        ],
        "synonyms": [
          "NYS5",
          "nystagmus 5, congenital, X-linked, X-linked dominant",
          "NYSTAGMUS 5, congenital, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010369"
    },
    {
      "id": 11595,
      "label": "nystagmus 6, congenital, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341,
        24625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111795",
          "MEDGEN:463102",
          "OMIM:300814",
          "UMLS:C3151752"
        ],
        "synonyms": [
          "nystagmus 6, congenital, X-linked",
          "nystagmus 6, congenital, X-linked, X-linked recessive",
          "NYS6",
          "NYSTAGMUS 6, congenital, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010435"
    },
    {
      "id": 11837,
      "label": "nystagmus 1, congenital, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010693"
    },
    {
      "id": 11838,
      "label": "nystagmus, myoclonic",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:326918",
          "MESH:C564088",
          "OMIM:310800",
          "UMLS:C1839579"
        ],
        "synonyms": [
          "nystagmus, myoclonic",
          "myoclonic nystagmus"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010694"
    },
    {
      "id": 13086,
      "label": "nystagmus 3, congenital, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111793",
          "MEDGEN:374873",
          "MESH:C537855",
          "OMIM:608345",
          "UMLS:C1842186"
        ],
        "synonyms": [
          "NYS3",
          "NYSTAGMUS 3, congenital, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012015"
    },
    {
      "id": 14915,
      "label": "nystagmus 7, congenital, autosomal dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7341
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111791",
          "MEDGEN:766715",
          "OMIM:614826",
          "UMLS:C3553801"
        ],
        "synonyms": [
          "NYS7",
          "NYSTAGMUS 7, congenital, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013903"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 6600,
      "label": "pathologic nystagmus"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}