{
  "id": 12817,
  "label": "fumaric aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011730",
  "properties": {
    "xrefs": [
      "DOID:0111261",
      "GARD:0006476",
      "ICD9:282.3",
      "MEDGEN:87458",
      "MESH:C538191",
      "NANDO:2200520",
      "OMIM:606812",
      "Orphanet:24",
      "SCTID:237983002",
      "UMLS:C0342770"
    ],
    "synonyms": [
      "fumarase deficiency",
      "fumaric aciduria",
      "FMRD",
      "fumarate hydratase deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Fumaric aciduria (FA), an autosomal recessive metabolic disorder, is most often characterized by early onset but non-specific clinical signs: hypotonia, severe psychomotor impairment, convulsions, respiratory distress, feeding difficulties and frequent cerebral malformations, along with a distinctive facies. Some patients present with only moderate intellectual impairment."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19107,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:700",
          "GARD:0018887",
          "MEDGEN:1778113",
          "MESH:D028361",
          "NANDO:1200173",
          "NANDO:2100163",
          "Orphanet:68380",
          "UMLS:C1456275"
        ],
        "synonyms": [
          "mitochondrial disease",
          "mitochondrial genetic disorders",
          "mitochondrial metabolism disease"
        ],
        "definition": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
      },
      "child_count": 42,
      "reference_id": "MONDO:0004069"
    },
    {
      "id": 17230,
      "label": "tricarboxylic acid cycle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020753",
          "MEDGEN:1843282",
          "Orphanet:254749",
          "UMLS:C5679646"
        ],
        "synonyms": [
          "Krebs cycle disorder",
          "TCA cycle disorder",
          "citric acid cycle disorder",
          "inborn error of tricarboxylic acid cycle",
          "inborn tricarboxylic acid cycle disorder",
          "rare inborn error of tricarboxylic acid cycle"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of tricarboxylic acid cycle."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016790"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6950,
        24271
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010711",
          "MEDGEN:1825937",
          "Orphanet:98497",
          "UMLS:C5681733"
        ],
        "synonyms": [
          "genetic peripheral neuropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual."
      },
      "child_count": 130,
      "reference_id": "MONDO:0020127"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 17230,
      "label": "tricarboxylic acid cycle disorder"
    },
    {
      "id": 19748,
      "label": "hereditary peripheral neuropathy"
    }
  ]
}