{
  "id": 18837,
  "label": "oculocutaneous albinism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018910",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 18283,
      "label": "disorder of melanin metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021528",
          "MEDGEN:1842889",
          "Orphanet:352728",
          "UMLS:C5680988"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0018134"
    },
    {
      "id": 19141,
      "label": "hypopigmentation of the skin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19139
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "HP:0001010",
          "MEDGEN:102477",
          "MESH:D017496",
          "MedDRA:10040868",
          "Orphanet:79376",
          "UMLS:C0162835"
        ],
        "synonyms": [
          "hypopigmentation of the skin",
          "hypopigmentation of the skin (disease)",
          "hypomelanoses",
          "hypomelanosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019290"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6820
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MESH:D012873",
          "SCTID:239001006"
        ],
        "synonyms": [
          "disease, genetic skin",
          "diseases, genetic skin",
          "genetic skin disease",
          "genetic skin diseases",
          "genodermatosis",
          "skin disease, genetic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An instance of skin disease that is caused by a modification of the individual's genome."
      },
      "child_count": 228,
      "reference_id": "MONDO:0100118"
    }
  ],
  "children": [
    {
      "id": 10019,
      "label": "oculocutaneous albinism type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008746"
    },
    {
      "id": 10020,
      "label": "oculocutaneous albinism type 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008747"
    },
    {
      "id": 12773,
      "label": "oculocutaneous albinism type 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011683"
    },
    {
      "id": 15079,
      "label": "oculocutaneous albinism type 7",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070100",
          "GARD:0017531",
          "MEDGEN:815116",
          "OMIM:615179",
          "Orphanet:352745",
          "SCTID:722059002",
          "UMLS:C3808786"
        ],
        "synonyms": [
          "LRMDA oculocutaneous albinism",
          "OCA7",
          "oculocutaneous albinism caused by mutation in LRMDA",
          "albinism, oculocutaneous, type 7",
          "albinism, oculocutaneous, type VII",
          "oculocutaneous albinism type VII"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014070"
    },
    {
      "id": 15135,
      "label": "oculocutaneous albinism type 5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070099",
          "GARD:0017598",
          "MEDGEN:854888",
          "OMIM:615312",
          "Orphanet:370091",
          "SCTID:722057000",
          "UMLS:C3888401"
        ],
        "synonyms": [
          "OCA5",
          "albinism, oculocutaneous, type V",
          "oculocutaneous albinism type V"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014127"
    },
    {
      "id": 18284,
      "label": "oculocutaneous albinism type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17628,
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004037",
          "MEDGEN:82809",
          "MESH:C537728",
          "Orphanet:352731",
          "SCTID:765146000",
          "UMLS:C0268494"
        ],
        "synonyms": [
          "OCA1",
          "oculocutaneous albinism type 1",
          "ATN",
          "oculocutaneous albinism, tyrosinase negative"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS)."
      },
      "child_count": 6,
      "reference_id": "MONDO:0018135"
    },
    {
      "id": 18384,
      "label": "oculocutaneous albinism type 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080614",
          "GARD:0017599",
          "MEDGEN:811705",
          "OMIM:113750",
          "Orphanet:370097",
          "SCTID:722058005",
          "UMLS:C3805375"
        ],
        "synonyms": [
          "OCA6",
          "albinism, oculocutaneous, type VI",
          "skin/hair/eye pigmentation 4, fair/dark skin"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018264"
    },
    {
      "id": 22106,
      "label": "oculocutaneous albinism type 8",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018017",
          "MEDGEN:1754121",
          "OMIM:619165",
          "Orphanet:597733",
          "UMLS:C5436929"
        ],
        "synonyms": [
          "OCA8",
          "oculocutaneous albinism, type 8",
          "oculocutaneous albinism, type VIII"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030899"
    },
    {
      "id": 22998,
      "label": "autosomal dominant oculocutaneous albinism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        18837
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025827",
          "MEDGEN:541335",
          "SCTID:79417003",
          "UMLS:C0268499"
        ],
        "synonyms": [
          "autosomal dominant oculocutaneous albinism",
          "oculocutaneous albinism, autosomal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Autosomal dominant form of oculocutaneous albinism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0040654"
    }
  ],
  "roots": [
    {
      "id": 18283,
      "label": "disorder of melanin metabolism"
    },
    {
      "id": 19141,
      "label": "hypopigmentation of the skin"
    },
    {
      "id": 23867,
      "label": "hereditary skin disorder"
    }
  ]
}