{
  "id": 14040,
  "label": "porphyria due to ALA dehydratase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013000",
  "properties": {
    "xrefs": [
      "GARD:0016937",
      "MEDGEN:78659",
      "MESH:C562618",
      "NCIT:C133887",
      "NORD:747",
      "OMIM:612740",
      "Orphanet:100924",
      "UMLS:C0268328"
    ],
    "synonyms": [
      "ALAD Porphyria",
      "ALAD porphyria",
      "ALAD-related hepatic porphyria",
      "ALAD-related porphyria",
      "acute hepatic porphyria",
      "porphyria due to ALAD deficiency",
      "porphyria due to delta-aminolevulinate dehydratase deficiency",
      "porphyria of Doss",
      "5-aminolevulinic acid dehydratase deficiency porphyria",
      "ALA dehydratase deficiency pophyria",
      "ALAD deficiency",
      "Delta-aminolevulinate dehydratase deficiency",
      "Doss porphyria",
      "Lead poisoning, susceptibility to",
      "aminolevulinate dehydratase deficiency porphyria",
      "porphobilinogen synthase deficiency",
      "porphyria, ALAD",
      "porphyria, acute hepatic"
    ],
    "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 biallelic variants in ALAD (in an autosomal recessive inheritance pattern). This is an extremely rare form of hepatic porphyria characterized by neuro-visceral attacks, nausea, vomiting, diarrhea, neuropathy, and abdominal pain without cutaneous manifestations. Because the disease is so rare, inducible triggers are not well-documented."
  },
  "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": 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": [],
  "roots": [
    {
      "id": 4591,
      "label": "hepatic porphyria"
    },
    {
      "id": 19020,
      "label": "inherited porphyria"
    }
  ]
}