{
  "id": 11342,
  "label": "tyrosinemia type II",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010160",
  "properties": {
    "xrefs": [
      "DOID:0050725",
      "GARD:0003105",
      "MEDGEN:75687",
      "MedDRA:10069463",
      "NANDO:1200789",
      "NANDO:2200469",
      "NCIT:C129032",
      "OMIM:276600",
      "Orphanet:28378",
      "SCTID:4887000",
      "UMLS:C0268487",
      "icd11.foundation:1900229795"
    ],
    "synonyms": [
      "Richner-Hanhart syndrome",
      "keratosis palmoplantaris-corneal dystrophy syndrome",
      "oculocutaneous tyrosinemia",
      "tyrosinemia due to TAT deficiency",
      "tyrosinemia due to tyrosine aminotransferase deficiency",
      "tyrosinemia type II",
      "Oregon type tyrosinemia",
      "Richner Hanhart syndrome",
      "TYRSN2",
      "Tat deficiency",
      "Tyrosinosis oculocutaneous type",
      "Tyrosinosis, oculocutaneous type",
      "keratosis palmoplantaris with corneal dystrophy",
      "tyrosine aminotransferase deficiency",
      "tyrosine transaminase deficiency",
      "tyrosinemia type 2",
      "tyrosinemia, type 2",
      "tyrosinemia, type II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Tyrosinemia type 2 is an inborn error of tyrosine metabolism characterized by hypertyrosinemia with oculocutaneous manifestations and, in some cases, intellectual deficit."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 6513,
      "label": "tyrosinemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17628
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9275",
          "GARD:0024099",
          "ICD10CM:E70.21",
          "ICD9:270.2",
          "MEDGEN:541332",
          "MESH:D020176",
          "NCIT:C98640",
          "OMIMPS:276700",
          "SCTID:190694001",
          "UMLS:C0268486"
        ],
        "definition": "An autosomal recessive inherited metabolic disorder caused by mutations in the FAH, HPD, and TAT genes. It is characterized by deficiency of one of the enzymes that are involved in the metabolism of tyrosine. It results in elevated blood tyrosine levels and accumulation of tyrosine and its byproducts in the liver, kidney, nervous system and other organs."
      },
      "child_count": 4,
      "reference_id": "MONDO:0004741"
    },
    {
      "id": 7019,
      "label": "eye disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4171,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1242",
          "DOID:5614",
          "EFO:0003966",
          "ICD9:360",
          "ICD9:360.29",
          "ICD9:360.89",
          "ICD9:360.9",
          "ICD9:379.8",
          "ICD9:379.90",
          "MEDGEN:5092",
          "MESH:D005128",
          "NCIT:C26767",
          "SCTID:371405004",
          "UMLS:C0015397"
        ],
        "synonyms": [
          "disease of eye",
          "disease of eyeball of camera-type eye",
          "disease or disorder of eyeball of camera-type eye",
          "disorder of eye",
          "disorder of eyeball of camera-type eye",
          "eye disease",
          "eye disorder",
          "eyeball of camera-type eye disease",
          "eyeball of camera-type eye disease or disorder",
          "globe disease",
          "disease of eyeball",
          "disorder of eye proper",
          "disorder of eyeball",
          "disorder of globe"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the eye. Representative examples include conjunctivitis, glaucoma, cataract, conjunctival squamous cell carcinoma, uveal melanoma, and retinoblastoma."
      },
      "child_count": 240,
      "reference_id": "MONDO:0005328"
    },
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19132
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021294",
          "MEDGEN:419939",
          "Orphanet:307837",
          "UMLS:C2931923",
          "icd11.foundation:1676945961"
        ],
        "synonyms": [
          "focal PPK",
          "focal keratosis palmoplantaris",
          "focal palmoplantar hyperkeratosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 12,
      "reference_id": "MONDO:0017672"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 6513,
      "label": "tyrosinemia"
    },
    {
      "id": 7019,
      "label": "eye disorder"
    },
    {
      "id": 17919,
      "label": "focal palmoplantar keratoderma"
    }
  ]
}