{
  "id": 24756,
  "label": "PPOX-related hepatic porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700383",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 9603,
      "label": "variegate porphyria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:4346",
          "GARD:0007848",
          "MEDGEN:58118",
          "MESH:D046350",
          "NANDO:1200814",
          "NANDO:2201265",
          "NCIT:C85219",
          "NORD:1821",
          "OMIM:176200",
          "Orphanet:79473",
          "SCTID:58275005",
          "UMLS:C0162532",
          "icd11.foundation:1227474618"
        ],
        "synonyms": [
          "Protocoproporphyria",
          "protoporphyrinogen oxidase deficiency",
          "variegate porphyria",
          "PPOX deficiency",
          "VP",
          "porphyria variegata",
          "porphyria variegata, susceptibility to",
          "porphyria variegate",
          "porphyria, South African type",
          "variegate porphyria, homozygous variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Variegate porphyria is a form of acute hepatic porphyria characterized by the occurrence of neuro-visceral attacks with or without the presence of cutaneous lesions."
      },
      "child_count": 1,
      "reference_id": "MONDO:0008297"
    }
  ],
  "roots": [
    {
      "id": 4591,
      "label": "hepatic porphyria"
    },
    {
      "id": 19020,
      "label": "inherited porphyria"
    }
  ]
}