{
  "id": 10020,
  "label": "oculocutaneous albinism type 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008747",
  "properties": {
    "xrefs": [
      "DOID:0070097",
      "GARD:0004039",
      "ICD9:270.2",
      "MEDGEN:87450",
      "MESH:C537731",
      "OMIM:203290",
      "OMIM:278400",
      "Orphanet:79433",
      "SCTID:63450009",
      "UMLS:C0342683",
      "icd11.foundation:1565320806"
    ],
    "synonyms": [
      "OCA3",
      "Red oculocutaneous albinism",
      "TYRP1 oculocutaneous albinism",
      "oculocutaneous albinism caused by mutation in TYRP1",
      "oculocutaneous albinism type 3",
      "rufous oculocutaneous albinism",
      "xanthous oculocutaneous albinism",
      "ROCA",
      "Xanthism",
      "albinism 3",
      "albinism, oculocutaneous, type 3",
      "albinism, oculocutaneous, type III",
      "oculocutaneous albinism type III",
      "oculocutaneous albinism, type 3",
      "rufous OCA"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18837,
      "label": "oculocutaneous albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18283,
        19141,
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050632",
          "GARD:0010958",
          "ICD10CM:E70.32",
          "ICD9:270.2",
          "MEDGEN:36250",
          "MESH:D016115",
          "NANDO:1200637",
          "NANDO:1200641",
          "NANDO:2200986",
          "NCIT:C84941",
          "NORD:1522",
          "OMIMPS:203100",
          "Orphanet:55",
          "SCTID:63844009",
          "UMLS:C0078918",
          "icd11.foundation:1189424097"
        ],
        "synonyms": [
          "OCA",
          "non-syndromic oculocutaneous albinism",
          "nonsyndromic oculocutaneous albinism",
          "albinism, oculocutaneous"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7."
      },
      "child_count": 27,
      "reference_id": "MONDO:0018910"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18837,
      "label": "oculocutaneous albinism"
    }
  ]
}