{
  "id": 24755,
  "label": "HMBS-related hepatic porphyria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700382",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "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": 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": 9600,
      "label": "acute intermittent porphyria",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20092,
        24755
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008294"
    },
    {
      "id": 24757,
      "label": "porphyria, acute intermittent, nonerythroid variant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24755
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700384"
    },
    {
      "id": 25879,
      "label": "encephalopathy, porphyria-related",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        23939,
        24755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0028081",
          "MEDGEN:1859316",
          "OMIM:620704",
          "UMLS:C5935574"
        ],
        "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:0958224"
    },
    {
      "id": 25880,
      "label": "leukoencephalopathy, porphyria-related",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18952,
        24755
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026976",
          "MEDGEN:1862491",
          "OMIM:620711",
          "UMLS:C5935575"
        ],
        "categories": [
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958226"
    }
  ],
  "roots": [
    {
      "id": 4591,
      "label": "hepatic porphyria"
    },
    {
      "id": 19020,
      "label": "inherited porphyria"
    }
  ]
}