{
  "id": 10019,
  "label": "oculocutaneous albinism type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008746",
  "properties": {
    "xrefs": [
      "DOID:0070096",
      "GARD:0004038",
      "MEDGEN:82810",
      "MESH:C537730",
      "OMIM:203200",
      "Orphanet:79432",
      "UMLS:C0268495",
      "icd11.foundation:2019316252"
    ],
    "synonyms": [
      "OCA2",
      "albinism, oculocutaneous, type II, modifier of",
      "oculocutaneous albinism type 2",
      "oculocutaneous albinism, tyrosinase-positive",
      "Albinoidism",
      "Brown oculocutaneous albinism",
      "albinism 2",
      "albinism, Brown oculocutaneous",
      "albinism, oculocutaneous, type 2",
      "albinism, oculocutaneous, type II",
      "oculocutaneous albinism type II",
      "oculocutaneous albinism tyrosinase positive",
      "oculocutaneous albinism, type 2",
      "tyrosinase-positive oculocutaneous albinism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm."
  },
  "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"
    }
  ]
}