{
  "id": 10625,
  "label": "ornithine translocase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009393",
  "properties": {
    "xrefs": [
      "DOID:0050720",
      "GARD:0002830",
      "MEDGEN:82815",
      "MESH:C538380",
      "NANDO:2200485",
      "NCIT:C129029",
      "OMIM:238970",
      "Orphanet:415",
      "SCTID:30287008",
      "UMLS:C0268540"
    ],
    "synonyms": [
      "HHH syndrome",
      "ORNT1 deficiency",
      "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome",
      "ornithine carrier deficiency",
      "ornithine translocase deficiency",
      "triple H syndrome",
      "HHH",
      "HHHS",
      "Hhh syndrome",
      "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome",
      "ornithine translocase deficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare, genetic disorder of urea cycle metabolism characterized by either a neonatal-onset with manifestations of lethargy, poor feeding, vomiting and tachypnea or, more commonly, presentations in infancy, childhood or adulthood with chronic neurocognitive deficits, acute encephalopathy and/or coagulation defects or other chronic liver dysfunction."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24857,
      "label": "urea cycle disorder or inherited hyperammonemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026463"
        ],
        "definition": "A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle or an inherited hyperammonemia (any specific disease which causes an inherited increased concentration of ammonia in the blood)."
      },
      "child_count": 10,
      "reference_id": "MONDO:0800153"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24857,
      "label": "urea cycle disorder or inherited hyperammonemia"
    }
  ]
}