{
  "id": 10018,
  "label": "oculocutaneous albinism type 1A",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008745",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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": 22997,
      "label": "autosomal recessive ocular albinism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        17625
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025826",
          "ICD10CM:E70.311",
          "MEDGEN:541337",
          "SCTID:78921008",
          "UMLS:C0268503"
        ],
        "synonyms": [
          "autosomal recessive ocular albinism",
          "autosomal recessive ocular albinism (disease)",
          "ocular albinism (disease), autosomal recessive",
          "AROA"
        ],
        "categories": [
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Autosomal recessive form of ocular albinism (disease)."
      },
      "child_count": 2,
      "reference_id": "MONDO:0040653"
    }
  ],
  "children": [
    {
      "id": 12836,
      "label": "oculocutaneous albinism type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10018
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070095",
          "GARD:0000594",
          "MEDGEN:337712",
          "MESH:C537729",
          "OMIM:606952",
          "Orphanet:79434",
          "UMLS:C1847024",
          "icd11.foundation:1233842528"
        ],
        "synonyms": [
          "OCA1B",
          "Yellow oculocutaneous albinism",
          "albinism, Yellow mutant type",
          "oculocutaneous albinism, Amish type",
          "platinum oculocutaneous albinism",
          "Oca1-Ts",
          "Yellow albinism",
          "Yellow mutant albinism",
          "albinism, oculocutaneous, type 1B",
          "albinism, oculocutaneous, type I, temperature-sensitive",
          "albinism, oculocutaneous, type IB",
          "oculocutaneous albinism type IB",
          "oculocutaneous albinism, type 1B"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011749"
    }
  ],
  "roots": [
    {
      "id": 18284,
      "label": "oculocutaneous albinism type 1"
    },
    {
      "id": 22997,
      "label": "autosomal recessive ocular albinism"
    }
  ]
}