{
  "id": 19020,
  "label": "inherited porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019142",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "parents": [
    {
      "id": 16625,
      "label": "hereditary photodermatosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23867
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020277",
          "MEDGEN:1842494",
          "Orphanet:183490",
          "UMLS:C5679594"
        ],
        "synonyms": [
          "photogenodermatosis",
          "photogénodermatose",
          "genetic photosensitivity",
          "genetic skin photosensitivity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Hereditary photodermatoses are a spectrum of rare photosensitive disorders that are often caused by genetic deficiency or malfunction of various components of the DNA repair pathway. This results clinically in extreme photosensitivity, with many syndromes exhibiting an increased risk of cutaneous malignancies."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015951"
    },
    {
      "id": 17981,
      "label": "inborn disorder of porphyrin metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18954,
        22981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021346",
          "Orphanet:309813",
          "SCTID:403832004"
        ],
        "synonyms": [
          "disorder of porphyrin and haem metabolism",
          "inborn disorder of porphyrin and haem metabolism",
          "inborn error of porphyrin-containing compound metabolic process",
          "inborn porphyrin-containing compound metabolic process disorder",
          "inherited disorder of porphyrin metabolism",
          "rare inborn error of porphyrin-containing compound metabolic process"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of porphyrin-containing compound metabolic process."
      },
      "child_count": 8,
      "reference_id": "MONDO:0017754"
    },
    {
      "id": 22990,
      "label": "porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        22981
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1844832",
          "MESH:D011164",
          "NANDO:1200811",
          "NCIT:C97096",
          "SCTID:418470004",
          "UMLS:C5848305"
        ],
        "synonyms": [
          "porphyria"
        ],
        "definition": "Porphyria is a group of diseases in which substances called porphyrins build up, negatively affecting the skin or nervous system. Most types are inherited, but porphyria cutanea tarda may also be due to increased iron in the liver, hepatitis C, alcohol, or HIV/AIDS."
      },
      "child_count": 3,
      "reference_id": "MONDO:0037939"
    }
  ],
  "children": [
    {
      "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"
    },
    {
      "id": 11105,
      "label": "cutaneous porphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5573,
        19020,
        20022
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009902"
    },
    {
      "id": 14040,
      "label": "porphyria due to ALA dehydratase deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4591,
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016937",
          "MEDGEN:78659",
          "MESH:C562618",
          "NCIT:C133887",
          "NORD:747",
          "OMIM:612740",
          "Orphanet:100924",
          "UMLS:C0268328"
        ],
        "synonyms": [
          "ALAD Porphyria",
          "ALAD porphyria",
          "ALAD-related hepatic porphyria",
          "ALAD-related porphyria",
          "acute hepatic porphyria",
          "porphyria due to ALAD deficiency",
          "porphyria due to delta-aminolevulinate dehydratase deficiency",
          "porphyria of Doss",
          "5-aminolevulinic acid dehydratase deficiency porphyria",
          "ALA dehydratase deficiency pophyria",
          "ALAD deficiency",
          "Delta-aminolevulinate dehydratase deficiency",
          "Doss porphyria",
          "Lead poisoning, susceptibility to",
          "aminolevulinate dehydratase deficiency porphyria",
          "porphobilinogen synthase deficiency",
          "porphyria, ALAD",
          "porphyria, acute hepatic"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A hepatic porphyria caused by biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013000"
    },
    {
      "id": 17570,
      "label": "erythropoietic uroporphyria associated with myeloid malignancy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010948",
          "MEDGEN:1679887",
          "Orphanet:280379",
          "UMLS:C5191004"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017231"
    },
    {
      "id": 20948,
      "label": "chester porphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:82789",
          "OMIM:176010",
          "UMLS:C0268322"
        ],
        "synonyms": [
          "PORC",
          "porphyria, Chester type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "Chester porphyria is a unique type of porphyria with the signs and symptoms of acute intermittent porphyria (AIP) and the biochemical defects of both AIP and variegate porphyria (VP). Chester porphyria does not conform to any of the recognized types of acute porphyria. The symptoms associated with Chester porphyria are similar to those observed in other acute porphyrias. Treatment is symptomatic."
      },
      "child_count": 0,
      "reference_id": "MONDO:0022714"
    },
    {
      "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"
    },
    {
      "id": 24755,
      "label": "HMBS-related hepatic porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4591,
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028037"
        ],
        "synonyms": [
          "HMBS-related hepatic 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 hepatic porphyria caused by monoallelic and biallelic variants in HMBS and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants predispose to acute/episodic attacks in adulthood with abdominal pain, neuropathy, and neuropsychiatric symptoms (women are more often affected) without cutaneous manifestations. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Biallelic variants cause severe disease in childhood presenting with neurological issues including developmental abnormalities, ataxia, dysarthria, leukoencephalopathy, cataracts and optic nerve hypoplasia."
      },
      "child_count": 8,
      "reference_id": "MONDO:0700382"
    },
    {
      "id": 24756,
      "label": "PPOX-related hepatic porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4591,
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028038"
        ],
        "synonyms": [
          "PPOX-related hepatic 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 hepatic porphyria (or variegate porphyria) caused by monoallelic and biallelic variants in PPOX, presenting as a spectrum of disease (a semidominant inheritance pattern). Cases caused by monoallelic variants may have onset during adolescence or adulthood and are episodic characterized by abdominal pain, constipation, vomiting, muscular paralysis, and psychosis. Other symptoms may include abnormal blistering of the skin, cutaneous photosensitivity, and neuropathy. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases caused by biallelic variants, which reduce enzyme activity to <25% of normal, typically result in child or adolescent onset with greater severity. Symptoms for this extend to brachydactyly, clinodactyly, intellectual disability, nystagmus, myopia, growth retardation, and hyperpigmentation."
      },
      "child_count": 2,
      "reference_id": "MONDO:0700383"
    },
    {
      "id": 24872,
      "label": "CPOX-related hereditary coproporphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19020
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026471"
        ],
        "synonyms": [
          "CPOX-related hepatic porphyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ],
        "definition": "A porphyria caused by monoallelic and biallelic variants in CPOX and presenting as a spectrum of disease (a semidominant inheritance pattern). Monoallelic variants typically cause acute/episodic neurovisceral attacks with adolescent or adult onset, characterized by severe abdominal pain as well as acute motor neuropathy and other neurological symptoms. Triggers precipitating acute attacks include estrogen/progesterone, oral contraceptives, alcohol, drugs, stress, or infections. Cases with biallelic variants have symptoms in infancy, including hemolytic anemia, enlarged liver and spleen (hepatosplenomegaly), and severe jaundice. Additional symptoms may include erythrodontia, red urine, fragile skin, and cutaneous photosensitivity leading to scarring of sun-exposed skin."
      },
      "child_count": 2,
      "reference_id": "MONDO:0800180"
    }
  ],
  "roots": [
    {
      "id": 16625,
      "label": "hereditary photodermatosis"
    },
    {
      "id": 17981,
      "label": "inborn disorder of porphyrin metabolism"
    },
    {
      "id": 22990,
      "label": "porphyria"
    }
  ]
}