{
  "id": 11580,
  "label": "X-linked erythropoietic protoporphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010420",
  "properties": {
    "xrefs": [
      "GARD:0017755",
      "MEDGEN:394385",
      "MESH:C567464",
      "NANDO:1200818",
      "NANDO:2201269",
      "OMIM:300752",
      "Orphanet:443197",
      "UMLS:C2677889"
    ],
    "synonyms": [
      "ALAS2-related erythropoietic protoporphyria",
      "X-linked dominant erythropoietic protoporphyria",
      "X-linked dominant protoporphyria",
      "XLDPP",
      "XLPP",
      "erythropoietic protoporphyria, X-linked",
      "Erythrohepatic protoporphyria, X-linked",
      "XLEPP",
      "XLP",
      "protoporphyria, erythropoietic, X-linked",
      "protoporphyria, erythropoietic, X-linked dominant"
    ],
    "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 in which the cause of the disease is a hemizygous, heterozygous, or homozygous (rare) gain-of-function (GOF) variant (X-linked inheritance pattern) in the terminal regulatory exon of ALAS2. GOF variants increase ALAS2 activity resulting in pathway upregulation and high levels of protoporphyrin IX (PPIX). Males with hemizygous variants frequently present in early childhood with severe cutaneous photosensitivity and laboratory markers of liver disease. Heterozygous females can present with symptoms ranging from as severe as affected males to asymptomatic due to random X-chromosome inactivation. This disease is clinically indistinguishable from FECH-related erythropoietic protoporphyria."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2902,
      "label": "X-linked disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050735",
          "ICD9:799.89",
          "MEDGEN:222910",
          "MESH:D040181",
          "NCIT:C85865",
          "SCTID:128430005",
          "UMLS:C1138434"
        ],
        "synonyms": [
          "X-linked disease or disorder",
          "X-linked hereditary disease",
          "X-linked hereditary disorder",
          "X-linked inherited disease",
          "X-linked inherited disorder",
          "disease or disorder, X-linked",
          "disease, X-linked",
          "X linked genetic diseases",
          "X-linked genetic disease",
          "X-linked genetic diseases",
          "disease, X-linked genetic",
          "diseases, X-linked genetic",
          "genetic disease, X-linked",
          "genetic diseases, X chromosome linked",
          "genetic diseases, X linked",
          "genetic diseases, X-chromosome linked"
        ],
        "definition": "X-linked form of disease."
      },
      "child_count": 50,
      "reference_id": "MONDO:0000425"
    },
    {
      "id": 3868,
      "label": "erythropoietic protoporphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4591,
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13270",
          "GARD:0007476",
          "MEDGEN:56455",
          "MESH:D046351",
          "NANDO:1200815",
          "NANDO:2201266",
          "OMIMPS:177000",
          "Orphanet:659681",
          "SCTID:51022005",
          "UMLS:C0162568",
          "icd11.foundation:1642941362"
        ],
        "synonyms": [
          "EPP (erythropoietic protoporphyria porphyria)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly."
      },
      "child_count": 4,
      "reference_id": "MONDO:0001676"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2902,
      "label": "X-linked disease"
    },
    {
      "id": 3868,
      "label": "erythropoietic protoporphyria"
    }
  ]
}