{
  "id": 9603,
  "label": "variegate porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008297",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "id": 25727,
      "label": "variegate porphyria, childhood-onset",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        9603
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026867",
          "MEDGEN:1849794",
          "OMIM:620483",
          "UMLS:C5882681"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957577"
    }
  ],
  "roots": [
    {
      "id": 24756,
      "label": "PPOX-related hepatic porphyria"
    }
  ]
}