{
  "id": 24224,
  "label": "UROD-related inherited porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100498",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 19020,
      "label": "inherited porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16625,
        17981,
        22990
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13268",
          "GARD:0010353",
          "MEDGEN:698423",
          "MedDRA:10036181",
          "MedDRA:10061356",
          "NANDO:2200610",
          "Orphanet:738",
          "SCTID:371628009",
          "UMLS:C1275125"
        ],
        "synonyms": [
          "disorder of porphyrin and heme metabolism",
          "disorder of porphyrin metabolism",
          "porphyria",
          "hereditary porphyria",
          "Hematoporphyria",
          "Porphyrinopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Porphyrias constitute a group of eight hereditary metabolic diseases characterized by intermittent neuro-visceral manifestations, cutaneous lesions or by the combination of both."
      },
      "child_count": 27,
      "reference_id": "MONDO:0019142"
    }
  ],
  "children": [
    {
      "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": 19020,
      "label": "inherited porphyria"
    }
  ]
}