{
  "id": 9600,
  "label": "acute intermittent porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008294",
  "properties": {
    "xrefs": [
      "DOID:3890",
      "GARD:0005732",
      "MEDGEN:56452",
      "MESH:D017118",
      "NANDO:1200812",
      "NANDO:2201263",
      "NCIT:C84536",
      "NORD:729",
      "OMIM:176000",
      "Orphanet:79276",
      "SCTID:234422006",
      "UMLS:C0162565",
      "icd11.foundation:1565229118"
    ],
    "synonyms": [
      "acute intermittent porphyria",
      "AIP",
      "HMBS deficiency",
      "PBGD deficiency",
      "UPS deficiency",
      "hydroxymethylbilane synthase deficiency",
      "porphobilinogen deaminase deficiency",
      "porphyria, Chester type",
      "porphyria, Swedish type",
      "porphyria, acute intermittent",
      "porphyria, acute intermittent, Nonerythroid variant",
      "uroporphyrinogen synthase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Acute intermittent porphyria is the most frequent and the most severe form of the acute hepatic porphyrias. It is characterized by the occurrence of neuro-visceral attacks without cutaneous manifestations."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 20092,
      "label": "acute disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24492
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:799.89",
          "MEDGEN:1738",
          "MESH:D000208",
          "SCTID:2704003",
          "UMLS:C0001314"
        ],
        "synonyms": [
          "acute disease",
          "acute diseases",
          "disease, acute"
        ],
        "definition": "Disease having a short and relatively severe course."
      },
      "child_count": 119,
      "reference_id": "MONDO:0020683"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20092,
      "label": "acute disease"
    },
    {
      "id": 24755,
      "label": "HMBS-related hepatic porphyria"
    }
  ]
}