{
  "id": 9625,
  "label": "protoporphyria, erythropoietic, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008319",
  "properties": {
    "xrefs": [
      "GARD:0024616",
      "MEDGEN:1643471",
      "NANDO:1200815",
      "NANDO:2201266",
      "NCIT:C84698",
      "OMIM:177000",
      "UMLS:C4692546"
    ],
    "synonyms": [
      "erythropoietic protoporphyria",
      "protoporphyria, erythropoietic",
      "EPP1",
      "FECH-related erythropoietic protoporphyria",
      "ferrochelatase deficiency",
      "heme synthetase deficiency",
      "protoporphyria, erythropoietic, 1",
      "EPP",
      "erythrohepatic protoporphyria"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "An erythropoietic protoporphyria caused by biallelic variants in FECH (an autosomal recessive inheritance pattern) and causing primarily accumulation of protoporphyrin IX. Symptoms include extremely painful photosensitivity in childhood, possible microcytic anemia, cholelithiasis, and ~5% of patients develop liver failure. The majority of individuals with FECH-related erythropoietic protoporphyria harbor a hypomorphic variant (NM_000140.5:c.315-48T>C), which reduces enzyme levels by ~35%, in trans to a second pathogenic variant. Clinically individuals with this form of porphyria cannot be distinguished from those with ALAS2-related erythropoietic protoporphyria."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19124,
      "label": "autosomal erythropoietic protoporphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3868
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004527",
          "MedDRA:10015289",
          "NANDO:1200815",
          "Orphanet:79278"
        ],
        "synonyms": [
          "EPP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Erythropoietic protoporphyria (EPP) is an inherited disorder of the heme metabolic pathway characterized by accumulation of protoporphyrin in blood, erythrocytes and tissues, and cutaneous manifestations of photosensitivity."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019263"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19124,
      "label": "autosomal erythropoietic protoporphyria"
    }
  ]
}