{
  "id": 20270,
  "label": "X-linked recessive ocular albinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021019",
  "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."
  },
  "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"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2902
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080012",
          "MEDGEN:1798083",
          "UMLS:C5566660"
        ],
        "definition": "X-linked recessive form of disease."
      },
      "child_count": 12,
      "reference_id": "MONDO:0020605"
    },
    {
      "id": 23164,
      "label": "albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:E70.3",
          "MEDGEN:182",
          "MESH:D000417",
          "NCIT:C84543",
          "SCTID:15890002",
          "UMLS:C0001916"
        ],
        "synonyms": [
          "albinism"
        ],
        "definition": "A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair, or skin."
      },
      "child_count": 2,
      "reference_id": "MONDO:0043209"
    },
    {
      "id": 24625,
      "label": "GPR143-related foveal hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23292
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "GPR143-related foveal hypoplasia with or without albinism"
        ],
        "definition": "Any foveal hypoplasia with or without albinism caused by a variant in the GPR143 gene."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700230"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 17625,
      "label": "ocular albinism"
    },
    {
      "id": 20040,
      "label": "X-linked recessive disease"
    },
    {
      "id": 23164,
      "label": "albinism"
    },
    {
      "id": 24625,
      "label": "GPR143-related foveal hypoplasia"
    }
  ]
}