{
  "id": 14149,
  "label": "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013111",
  "properties": {
    "xrefs": [
      "DOID:0080778",
      "GARD:0010593",
      "MEDGEN:480294",
      "OMIM:613070",
      "Orphanet:217371",
      "UMLS:C3278664"
    ],
    "synonyms": [
      "acute infantile liver failure",
      "LFIT",
      "TRMU infantile liver failure",
      "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins",
      "acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins",
      "infantile liver failure caused by mutation in TRMU",
      "liver failure, infantile, transient",
      "liver failure, transient infantile",
      "transient infantile liver failure"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      },
      {
        "ref": "MONDO:0005151",
        "name": "endocrine system disorder"
      }
    ],
    "definition": "Acute infantile liver failure due to mtDNA-encoded proteins synthesis defect is a very rare mitochondrial respiratory chain deficiency described in fewer than 10 infants, primarily of middle Eastern descent, and characterized clinically by transient but life-threatening liver failure with elevated liver enzymes, jaundice, vomiting, coagulopathy, hyperbilirubinemia, and lactic acidemia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2706,
      "label": "infantile liver failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        23933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080716",
          "GARD:0017820",
          "MEDGEN:1813021",
          "OMIMPS:615438",
          "Orphanet:464724",
          "UMLS:C5681094"
        ],
        "synonyms": [
          "fever-associated acute infantile liver failure syndrome",
          "infantile liver failure syndrome",
          "liver failure, infantile"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0000023"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5908
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020546",
          "MEDGEN:1825947",
          "Orphanet:223713",
          "UMLS:C5679825",
          "icd11.foundation:1204111545"
        ],
        "synonyms": [
          "OXPHOS disease",
          "OXPHOS system deficiency"
        ],
        "definition": "A multisystem disorder with variable manifestations resulting from a defect in the mitochondrial oxidative phosphorylation (OXPHOS) system."
      },
      "child_count": 48,
      "reference_id": "MONDO:0016387"
    },
    {
      "id": 19350,
      "label": "acute liver failure",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20092,
        23933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019112",
          "MEDGEN:58125",
          "MESH:D017114",
          "MedDRA:10000804",
          "NCIT:C84396",
          "Orphanet:90062",
          "SCTID:197270009",
          "UMLS:C0162557"
        ],
        "synonyms": [
          "acute hepatic failure",
          "fulminant hepatic failure"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ],
        "definition": "Rapid deterioration of liver function causing encephalopathy and coagulopathy. It results from damage to the liver parenchyma usually secondary to acetaminophen overdose or viral infections."
      },
      "child_count": 2,
      "reference_id": "MONDO:0019542"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2706,
      "label": "infantile liver failure"
    },
    {
      "id": 16918,
      "label": "mitochondrial oxidative phosphorylation disorder"
    },
    {
      "id": 19350,
      "label": "acute liver failure"
    }
  ]
}