{
  "id": 8860,
  "label": "Duane retraction syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007473",
  "properties": {
    "xrefs": [
      "DOID:12557",
      "GARD:0006288",
      "ICD10CM:H50.81",
      "ICD9:378.71",
      "MEDGEN:4413",
      "MESH:D004370",
      "MedDRA:10013799",
      "NCIT:C84678",
      "NORD:1062",
      "OMIMPS:126800",
      "Orphanet:233",
      "SCTID:60318001",
      "UMLS:C0013261"
    ],
    "synonyms": [
      "DRS",
      "DURS",
      "Duane retraction syndrome",
      "Duane syndrome",
      "Duane's syndrome",
      "Stilling-Turk-Duane syndrome",
      "Duane anomaly",
      "retraction syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Duane retraction syndrome (DRS) is a congenital form of strabismus characterized by horizontal eye movement limitation, globe retraction and palpebral fissure narrowing in attempted adduction. It is caused by a failure of development of the abducens nerve and can lead to amblyopia."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16052,
      "label": "nuclear oculomotor paralysis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3541
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:100932"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0015083"
    },
    {
      "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": 12549,
      "label": "Duane retraction syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8860
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061028",
          "GARD:0009966",
          "MEDGEN:196721",
          "OMIM:604356",
          "SCTID:128083007",
          "UMLS:C0751083"
        ],
        "synonyms": [
          "CHN1 Duane retraction syndrome",
          "Duane retraction syndrome 2",
          "Duane retraction syndrome caused by mutation in CHN1",
          "Duane retraction syndrome type 2",
          "DURS2",
          "Duane syndrome type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011444"
    },
    {
      "id": 15861,
      "label": "Duane retraction syndrome 3 with or without deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8860
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061029",
          "GARD:0010691",
          "MEDGEN:934719",
          "OMIM:617041",
          "UMLS:C4310752"
        ],
        "synonyms": [
          "DURS3",
          "Duane retraction syndrome 3 with or without deafness",
          "Duane retraction syndrome caused by mutation in MAFB",
          "MAFB Duane retraction syndrome",
          "Duane retraction syndrome 3",
          "Duane syndrome type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Duane syndrome type 3 is a disorder of eye movement.The affected eye, or eyes, has limited ability to move both inward toward the nose and outward toward the ears. The eye opening narrows and the eyeball pulls in when looking inward toward the nose. About 15 percent of all cases of Duane syndrome are type 3. Most cases occur without other signs and symptoms.In most people with Duane syndrome type 3, the cause is unknown; but it can sometimes be caused by mutations in the CHN1 gene and inherited in an autosomal dominant fashion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014880"
    },
    {
      "id": 21306,
      "label": "Duane syndrome type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8860
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061027",
          "GARD:0010763",
          "MEDGEN:201329",
          "OMIM:126800",
          "SCTID:128082002",
          "UMLS:C0994516"
        ],
        "synonyms": [
          "DURS1",
          "Duane retraction syndrome 1",
          "Drs",
          "Duane anomaly",
          "Duane syndrome",
          "retraction syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Duane syndrome type 1 is the most common type of Duane syndrome, an eye movement disorder that is present at birth. People with Duane syndrome have restricted ability to move the affected eye(s) outward toward the ear (abduction) and/or inward toward the nose (adduction). The different types are distinguished by the eye movements that are most restricted. Duane syndrome type 1 is characterized by absent to very restricted abduction and normal to mildly restricted adduction. The eye opening (palpebral fissure) narrows and the eyeball retracts into the orbit with adduction. With abduction, the reverse occurs. One or both eyes may be affected. The majority of cases are sporadic (not inherited), while about 10% are familial. 70% of affected people do not have any other abnormalities at birth (isolated Duane syndrome). Treatment is mainly supportive and may include glasses or contact lenses for vision correction, eye patches, or surgery."
      },
      "child_count": 0,
      "reference_id": "MONDO:0024265"
    },
    {
      "id": 22823,
      "label": "Duane retraction syndrome with congenital deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8860
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017968",
          "MEDGEN:1804304",
          "Orphanet:529574",
          "UMLS:C5680193"
        ],
        "synonyms": [
          "DRS with deafness",
          "DRS with hearing loss",
          "DURS with deafness",
          "DURS with hearing loss",
          "Duane retraction syndrome with congenital hearing loss"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A rare neurologic disease characterized by the presence of Duane retraction syndrome (i. e. a congenital cranial dysinnervation disorder with unilateral or bilateral limitation of abduction and/or adduction of the eye, as well as globe retraction and palpebral fissure narrowing on attempted adduction) in combination with congenital unilateral or bilateral hearing loss. The sidedness of hearing loss corresponds to the sidedness of the retraction syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0035337"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16052,
      "label": "nuclear oculomotor paralysis"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}