{
  "id": 9602,
  "label": "familial porphyria cutanea tarda",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008296",
  "properties": {
    "xrefs": [
      "EFO:0009043",
      "GARD:0017750",
      "MEDGEN:75669",
      "OMIM:176100",
      "Orphanet:443062",
      "SCTID:59229005",
      "UMLS:C0268323",
      "icd11.foundation:1318287619"
    ],
    "synonyms": [
      "hereditary porphyria cutanea tarda",
      "porphyria cutanea tarda type II",
      "porphyria cutanea tarda, susceptibility to",
      "PCT",
      "PCT, 'familial' type",
      "PCT, type 2",
      "Urod deficiency",
      "porphyria cutanea tarda",
      "porphyria cutanea tarda, type 2",
      "porphyria, Hepatocutaneous type",
      "porphyria, hepatoerythropoietic",
      "uroporphyrinogen decarboxylase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An instance of porphyria cutanea tarda that is caused by an inherited modification of the individual's genome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 16069,
      "label": "porphyria cutanea tarda",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4496,
        4591
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3132",
          "GARD:0007433",
          "ICD10CM:E80.1",
          "MEDGEN:56453",
          "MESH:D017119",
          "MedDRA:10036183",
          "NANDO:1200816",
          "NANDO:2201267",
          "NCIT:C27725",
          "ONCOTREE:PCT",
          "Orphanet:101330",
          "SCTID:61860000",
          "UMLS:C0162566",
          "icd11.foundation:370983230"
        ],
        "synonyms": [
          "PCT",
          "porphyria cutania tarda"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015104"
    },
    {
      "id": 24224,
      "label": "UROD-related inherited porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026251"
        ],
        "synonyms": [
          "UROD-related porphyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Porphyria caused by monoallelic and biallelic variants in UROD and presenting as a spectrum of disease (a semidominant inheritance pattern). Additionally, environmental factors almost always play a role in the disease. Monoallelic variants when exacerbated by environmental factors can result in episodic adult onset of photosensitivity. Biallelic variants that reduce WT enzyme activity <20% cause childhood onset of photosensitivity and sometimes liver damage."
      },
      "child_count": 2,
      "reference_id": "MONDO:0100498"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 16069,
      "label": "porphyria cutanea tarda"
    },
    {
      "id": 24224,
      "label": "UROD-related inherited porphyria"
    }
  ]
}