{
  "id": 4591,
  "label": "hepatic porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002520",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 6878,
      "label": "liver disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4586,
        6875
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:409",
          "EFO:0001421",
          "ICD10CM:K70-K77",
          "ICD9:573.8",
          "ICD9:573.9",
          "MEDGEN:893061",
          "MESH:D008107",
          "NCIT:C3196",
          "SCTID:235856003",
          "UMLS:C4021780",
          "icd11.foundation:1784240230"
        ],
        "synonyms": [
          "disease of liver",
          "disease or disorder of liver",
          "disorder of liver",
          "hepatic disease",
          "hepatic disorder",
          "liver and intrahepatic bile duct disorder",
          "liver disease",
          "liver disease or disorder",
          "liver disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A disease involving the liver."
      },
      "child_count": 64,
      "reference_id": "MONDO:0005154"
    },
    {
      "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": 8762,
      "label": "hereditary coproporphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4591,
        24872
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13269",
          "GARD:0006619",
          "MEDGEN:57931",
          "MESH:D046349",
          "MedDRA:10019866",
          "NANDO:1200813",
          "NANDO:2201264",
          "NCIT:C84759",
          "NORD:1228",
          "OMIM:121300",
          "Orphanet:79273",
          "SCTID:7425008",
          "UMLS:C0162531",
          "icd11.foundation:1365918274"
        ],
        "synonyms": [
          "coproporphyrinogen oxidase deficiency",
          "hereditary coproporphyria",
          "CPRO deficiency",
          "Cpo deficiency",
          "Cpox deficiency",
          "Cpx deficiency",
          "HCP",
          "Harderoporphyria",
          "coproporphyria",
          "coproporphyria hereditary",
          "coproporphyria, hereditary",
          "porphyria hepatica II",
          "porphyria hepatica coproporphyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "A form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks and, more rarely, by the presence of cutaneous lesions."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007369"
    },
    {
      "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": 16069,
      "label": "porphyria cutanea tarda",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4496,
        4591
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:3132",
          "GARD:0007433",
          "ICD10CM:E80.1",
          "MEDGEN:56453",
          "MESH:D017119",
          "MedDRA:10036183",
          "NANDO:1200816",
          "NANDO:2201267",
          "NCIT:C27725",
          "ONCOTREE:PCT",
          "Orphanet:101330",
          "SCTID:61860000",
          "UMLS:C0162566",
          "icd11.foundation:370983230"
        ],
        "synonyms": [
          "PCT",
          "porphyria cutania tarda"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "The most common form of chronic hepatic porphyria. It is characterized by bullous photodermatitis."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015104"
    },
    {
      "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": 26076,
      "label": "hepatic cutaneous porphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4591
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027206",
          "Orphanet:659698"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971154"
    }
  ],
  "roots": [
    {
      "id": 6878,
      "label": "liver disorder"
    },
    {
      "id": 22990,
      "label": "porphyria"
    }
  ]
}