{
  "id": 3868,
  "label": "erythropoietic protoporphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001676",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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"
    },
    {
      "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": 11580,
      "label": "X-linked erythropoietic protoporphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2902,
        3868
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010420"
    },
    {
      "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"
    }
  ],
  "roots": [
    {
      "id": 4591,
      "label": "hepatic porphyria"
    },
    {
      "id": 19020,
      "label": "inherited porphyria"
    }
  ]
}