{
  "id": 11105,
  "label": "cutaneous porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009902",
  "properties": {
    "xrefs": [
      "DOID:13271",
      "GARD:0004446",
      "MEDGEN:1861084",
      "MESH:D017092",
      "NANDO:1200817",
      "NANDO:2201268",
      "NCIT:C84697",
      "NORD:1599",
      "OMIM:263700",
      "Orphanet:79277",
      "SCTID:67312003",
      "UMLS:C5886774"
    ],
    "synonyms": [
      "CEP",
      "Congenital Erythropoietic Porphyria",
      "Günther disease",
      "UROS-related erythropoietic porphyria",
      "cutaneous porphyria",
      "erythropoietic porphyria",
      "Cep",
      "Gunther disease",
      "Uros deficiency",
      "congenital erythropoietic porphyria",
      "congenital porphyria",
      "porphyria, congenital erythropoietic",
      "uroporphyrinogen 3 synthase deficiency",
      "uroporphyrinogen III synthase, deficiency of"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "An erythropoietic porphyria (massive accumulation of photoreactive porphyrins in the bone marrow erythroid cells and circulating erythrocytes, resulting in cutaneous photosensitivity) caused by biallelic variants in UROS (in an autosomal recessive inheritance pattern). Cases where biallelic variants reduce WT enzyme activity to <5% are characterized by photosensitivity, hemolytic anemia (often in utero), erythrodontia, splenomegaly, cutaneous blistering, scarring and disfigurement. Other cases where biallelic variants do not reduce enzyme activity as severely (5-12% of WT activity) have a later onset of photosensitivity and milder symptoms."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5550,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:589",
          "GARD:0006167",
          "ICD9:282",
          "ICD9:282.9",
          "MEDGEN:1919",
          "MESH:D000745",
          "NANDO:2100183",
          "NCIT:C34379",
          "SCTID:42601008",
          "UMLS:C0002881"
        ],
        "synonyms": [
          "congenital hemolytic anemia",
          "hereditary hemolytic anemia",
          "anaemia hemolytic congenital",
          "anemia hemolytic congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies."
      },
      "child_count": 46,
      "reference_id": "MONDO:0003689"
    },
    {
      "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"
    },
    {
      "id": 20022,
      "label": "anemia due to erythrocyte enzyme disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20021
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025178",
          "MEDGEN:1383362",
          "NCIT:C131630",
          "UMLS:C4329304"
        ],
        "synonyms": [
          "anemia due to erythrocyte enzyme disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any form of anemia that results from the absence of, or the defective action of, any enzyme involved in erythropoiesis."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020585"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5573,
      "label": "familial hemolytic anemia"
    },
    {
      "id": 19020,
      "label": "inherited porphyria"
    },
    {
      "id": 20022,
      "label": "anemia due to erythrocyte enzyme disorder"
    }
  ]
}