{
  "id": 8762,
  "label": "hereditary coproporphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007369",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4591,
      "label": "hepatic porphyria"
    },
    {
      "id": 24872,
      "label": "CPOX-related hereditary coproporphyria"
    }
  ]
}