{
  "id": 24757,
  "label": "porphyria, acute intermittent, nonerythroid variant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700384",
  "properties": {
    "xrefs": [
      "GARD:0028039",
      "MEDGEN:357392",
      "UMLS:C1867969"
    ],
    "categories": [
      {
        "ref": "MONDO:0002051",
        "name": "integumentary system disorder"
      },
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "A HMBS-related hepatic porphyria subtype caused by variants in HMBS exon 1, which is not expressed in erythrocytes, causing HMBS activity in erythrocytes to be at a normal level. The housekeeping promoter produces the HMBS transcript containing exons 1 and 3-15. In contrast, erythrocytes use an erythroid-specific promoter downstream of the housekeeping HMBS promoter to produce a transcript that contains only exons 2-15. Therefore deleterious variants occurring within exon 1 or affecting the splicing of exon 1 to exon 3 do not impact the erythrocyte isozyme, but do impact the more broadly expressed housekeeping isozyme."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24755,
      "label": "HMBS-related hepatic porphyria"
    }
  ]
}