{
  "id": 11552,
  "label": "ocular albinism with late-onset sensorineural deafness",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010390",
  "properties": {
    "xrefs": [
      "GARD:0000592",
      "MEDGEN:337149",
      "OMIM:300650",
      "Orphanet:1000",
      "SCTID:722054007",
      "UMLS:C1845069"
    ],
    "synonyms": [
      "OASD",
      "albinism ocular late onset sensorineural deafness",
      "albinism, ocular, with late-onset sensorineural deafness",
      "deafness and ocular albinism",
      "ocular albinism with sensorineural deafness"
    ],
    "categories": [
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Ocular albinism with late-onset sensorineural deafness (OASD), is a rare, X-linked inherited type of ocular albinism described in one African kindred (7 males over 3 generations) to date, characterized by severe visual impairment, translucent pale-blue iridies, a reduction in the retinal pigment and moderately severe deafness by middle age (fourth to fifth decade of life). It is unclear whether it is allelic to X-linked recessive ocular albinism or a contiguous gene syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 17625,
      "label": "ocular albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18283,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050633",
          "GARD:0021124",
          "HP:0001107",
          "ICD10CM:E70.31",
          "ICD9:270.2",
          "MEDGEN:38147",
          "MESH:D016117",
          "MedDRA:10065276",
          "NORD:1516",
          "Orphanet:284804",
          "SCTID:26399002",
          "UMLS:C0078917",
          "icd11.foundation:1147926040"
        ],
        "synonyms": [
          "ocular albinism",
          "ocular albinism (disease)",
          "XLOA"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity."
      },
      "child_count": 6,
      "reference_id": "MONDO:0017304"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17625,
      "label": "ocular albinism"
    }
  ]
}