{
  "id": 17625,
  "label": "ocular albinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017304",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 18283,
      "label": "disorder of melanin metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021528",
          "MEDGEN:1842889",
          "Orphanet:352728",
          "UMLS:C5680988"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018134"
    },
    {
      "id": 21415,
      "label": "disorder of visual system",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "SCTID:128127008"
        ],
        "synonyms": [
          "disease of visual system",
          "disease or disorder of visual system",
          "disorder of visual system",
          "visual system disease",
          "visual system disease or disorder",
          "visual system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A disease that involves the visual system."
      },
      "child_count": 30,
      "reference_id": "MONDO:0024458"
    }
  ],
  "children": [
    {
      "id": 11552,
      "label": "ocular albinism with late-onset sensorineural deafness",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17625
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010390"
    },
    {
      "id": 20270,
      "label": "X-linked recessive ocular albinism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17625,
        20040,
        23164,
        24625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008471",
          "ICD9:270.2",
          "MEDGEN:90991",
          "MESH:C537863",
          "NCIT:C118785",
          "OMIM:300500",
          "Orphanet:54",
          "SCTID:78642008",
          "UMLS:C0342684",
          "icd11.foundation:846740259"
        ],
        "synonyms": [
          "Nettleship-Falls syndrome",
          "OA1",
          "XLOA",
          "ocular albinism type 1",
          "ocular albinism, Nettleship-Falls type",
          "ocular albinism, type I, Nettleship-Falls type",
          "Nettleship-Falls type ocular albinism",
          "X-linked ocular albinism",
          "albinism, ocular, type 1",
          "albinism, ocular, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "X-linked recessive ocular albinism (XLOA) is a rare disorder characterized by ocular hypopigmentation, foveal hypoplasia, nystagmus, photodysphoria, and reduced visual acuity in males."
      },
      "child_count": 0,
      "reference_id": "MONDO:0021019"
    },
    {
      "id": 22997,
      "label": "autosomal recessive ocular albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025826",
          "ICD10CM:E70.311",
          "MEDGEN:541337",
          "SCTID:78921008",
          "UMLS:C0268503"
        ],
        "synonyms": [
          "autosomal recessive ocular albinism",
          "autosomal recessive ocular albinism (disease)",
          "ocular albinism (disease), autosomal recessive",
          "AROA"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Autosomal recessive form of ocular albinism (disease)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0040653"
    }
  ],
  "roots": [
    {
      "id": 18283,
      "label": "disorder of melanin metabolism"
    },
    {
      "id": 21415,
      "label": "disorder of visual system"
    }
  ]
}