{
  "id": 24872,
  "label": "CPOX-related hereditary coproporphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800180",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "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": 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": 21827,
      "label": "harderoporphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24872
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025517",
          "MEDGEN:137981",
          "MESH:C562816",
          "OMIM:618892",
          "Orphanet:659672",
          "UMLS:C0342859",
          "icd11.foundation:1664486132"
        ],
        "synonyms": [
          "HARDEROPORPHYRIA",
          "HARPO",
          "harderoporphyria"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030048"
    }
  ],
  "roots": [
    {
      "id": 19020,
      "label": "inherited porphyria"
    }
  ]
}