{
  "id": 18284,
  "label": "oculocutaneous albinism type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018135",
  "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)."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 17628,
      "label": "disorder of tyrosine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19099,
        23517
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021127",
          "ICD9:270.2",
          "MEDGEN:541330",
          "Orphanet:284818",
          "SCTID:37200009",
          "UMLS:C0268482",
          "icd11.foundation:1842978338"
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0017307"
    },
    {
      "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": [
    {
      "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"
    },
    {
      "id": 18285,
      "label": "minimal pigment oculocutaneous albinism type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18284
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021529",
          "ICD9:270.2",
          "MEDGEN:1842241",
          "Orphanet:352734",
          "SCTID:237919007",
          "UMLS:C5679923"
        ],
        "synonyms": [
          "MP OCA type 1",
          "OCA1-MP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018136"
    },
    {
      "id": 18286,
      "label": "temperature-sensitive oculocutaneous albinism type 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18284
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017530",
          "MEDGEN:337736",
          "Orphanet:352737",
          "UMLS:C1847132"
        ],
        "synonyms": [
          "OCA1-TS",
          "TS OCA type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018137"
    }
  ],
  "roots": [
    {
      "id": 17628,
      "label": "disorder of tyrosine metabolism"
    },
    {
      "id": 18837,
      "label": "oculocutaneous albinism"
    }
  ]
}