{
  "id": 16069,
  "label": "porphyria cutanea tarda",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015104",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 4496,
      "label": "dermatitis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6820,
        20399
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2723",
          "ICD9:692.9",
          "MEDGEN:849741",
          "MESH:D003872",
          "NCIT:C2983",
          "SCTID:43116000",
          "UMLS:C3875321"
        ],
        "synonyms": [
          "inflammation of skin",
          "inflammation of the skin",
          "inflammation of zone of skin",
          "inflammatory skin disease",
          "skin inflammation",
          "zone of skin inflammation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "An inflammatory process affecting the skin. Signs include red rash, itching, and blister formation. Representative examples are contact dermatitis, atopic dermatitis, and seborrheic dermatitis."
      },
      "child_count": 66,
      "reference_id": "MONDO:0002406"
    },
    {
      "id": 4591,
      "label": "hepatic porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6878,
        22990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3133",
          "GARD:0019255",
          "GTR:AN0932921",
          "MEDGEN:58119",
          "MESH:D017094",
          "Orphanet:659694",
          "SCTID:55056006",
          "UMLS:C0162533"
        ],
        "synonyms": [
          "ALAD deficiency",
          "Delta-aminolevulinate dehydratase deficiency",
          "hepatic porphyria",
          "liver porphyria",
          "porphobilinogen synthase deficiency",
          "porphyria of liver",
          "acute hepatic porphyria",
          "acute porphyria",
          "hepatic Porphyrias",
          "porphyria, hepatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A group of metabolic diseases due to deficiency of one of a number of liver enzymes in the biosynthetic pathway of heme. They are characterized by the accumulation and increased excretion of porphyrins or its precursors. Clinical features include neurological symptoms (porphyria, acute intermittent), cutaneous lesions due to photosensitivity (porphyria cutanea tarda), or both (hereditary coproporphyria). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues."
      },
      "child_count": 14,
      "reference_id": "MONDO:0002520"
    }
  ],
  "children": [
    {
      "id": 9601,
      "label": "sporadic porphyria cutanea tarda",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16069,
        29231
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017749",
          "MEDGEN:357391",
          "MESH:C566768",
          "OMIM:176090",
          "Orphanet:443057",
          "SCTID:402479002",
          "UMLS:C1867968",
          "icd11.foundation:1813031784"
        ],
        "synonyms": [
          "acquired porphyria cutanea tarda",
          "porphyria cutanea tarda type I",
          "PCT, 'sporadic' type",
          "PCT, type 1",
          "porphyria cutanea tarda, type 1",
          "porphyria cutanea tarda, type I"
        ],
        "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 acquired during the lifetime of the individual."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008295"
    },
    {
      "id": 9602,
      "label": "familial porphyria cutanea tarda",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16069,
        24224
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008296"
    },
    {
      "id": 19541,
      "label": "hepatoerythropoietic porphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16069,
        24224
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5230",
          "GARD:0006169",
          "MEDGEN:57940",
          "MESH:D017121",
          "NANDO:1200819",
          "NANDO:2201270",
          "NCIT:C84754",
          "Orphanet:95159",
          "SCTID:111386004",
          "UMLS:C0162569",
          "icd11.foundation:214080046"
        ],
        "synonyms": [
          "HEP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A very rare form of chronic hepatic porphyria characterized by bullous photodermatitis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019799"
    }
  ],
  "roots": [
    {
      "id": 4496,
      "label": "dermatitis"
    },
    {
      "id": 4591,
      "label": "hepatic porphyria"
    }
  ]
}