{
  "id": 12773,
  "label": "oculocutaneous albinism type 4",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011683",
  "properties": {
    "xrefs": [
      "DOID:0070098",
      "GARD:0016722",
      "MEDGEN:338324",
      "MESH:C564696",
      "OMIM:606574",
      "Orphanet:79435",
      "SCTID:715632003",
      "UMLS:C1847836",
      "icd11.foundation:1286886811"
    ],
    "synonyms": [
      "OCA4",
      "SLC45A2 oculocutaneous albinism",
      "oculocutaneous albinism caused by mutation in SLC45A2",
      "albinism, oculocutaneous, type 4",
      "albinism, oculocutaneous, type IV",
      "oculocutaneous albinism type IV",
      "oculocutaneous albinism, type 4"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      }
    ],
    "definition": "Oculocutaneous albinism type 4 (OCA4) is a type of OCA characterized by varying degrees of skin and hair hypopigmentation, numerous 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"
    }
  ]
}