{
  "id": 22997,
  "label": "autosomal recessive ocular albinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0040653",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": [
    {
      "id": 10018,
      "label": "oculocutaneous albinism type 1A",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18284,
        22997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070094",
          "GARD:0016721",
          "ICD9:270.2",
          "MEDGEN:1643910",
          "NCIT:C168731",
          "OMIM:203100",
          "Orphanet:79431",
          "SCTID:6483008",
          "UMLS:C4551504",
          "icd11.foundation:1168847652"
        ],
        "synonyms": [
          "OCA1A",
          "TYR oculocutaneous albinism",
          "Tyr oculocutaneous albinism",
          "oculocutaneous albinism caused by mutation in TYR",
          "oculocutaneous albinism caused by mutation in Tyr",
          "oculocutaneous albinism, tyrosinase-negative",
          "tyrosinase-negative oculocutaneous albinism",
          "albinism 1",
          "albinism, oculocutaneous, type 1A",
          "albinism, oculocutaneous, type IA",
          "oculocutaneous albinism type IA",
          "oculocutaneous albinism, type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008745"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17625,
      "label": "ocular albinism"
    }
  ]
}