{
  "id": 19541,
  "label": "hepatoerythropoietic porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019799",
  "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."
  },
  "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"
    }
  ]
}