{
  "id": 11788,
  "label": "Lesch-Nyhan phenotype with normal HGPRT",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010642",
  "properties": {
    "xrefs": [
      "GARD:0024742",
      "MEDGEN:374332",
      "OMIM:308950",
      "UMLS:C1839883"
    ],
    "synonyms": [
      "Lesch-Nyhan phenotype with normal HGPRT"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 11470,
      "label": "Lesch-Nyhan syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        16715
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1919",
          "GARD:0007226",
          "ICD10CM:E79.1",
          "ICD9:277.2",
          "MEDGEN:9721",
          "MESH:D007926",
          "MedDRA:10057589",
          "NANDO:2200586",
          "NCIT:C61255",
          "NORD:1365",
          "OMIM:300322",
          "Orphanet:510",
          "SCTID:10406007",
          "UMLS:C0023374",
          "icd11.foundation:1886495906"
        ],
        "synonyms": [
          "HPRT complete deficiency",
          "HPRT deficiency grade IV",
          "Lesch Nyhan Syndrome",
          "Lesch-Nyhan syndrome",
          "Lesch-Nyhan syndrome, X-linked recessive",
          "X-linked hyperuricemia",
          "X-linked hyperuricemia (disorder) [ambiguous]",
          "complete hypoxanthine-guanine phosphoribosyltransferase deficiency",
          "deficiency of IMP pyrophosphorylase",
          "hypoxanthine guanine phosphoribosyltransferase complete deficiency",
          "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV",
          "HPRT deficiency",
          "HPRT deficiency, complete",
          "HPRT deficiency, neurologic variant",
          "Hprt1 deficiency",
          "LNS",
          "Lesch Nyhan disease",
          "Lesch Nyhan syndrome",
          "Lesch-Nyhan syndrome, neurologic variant",
          "hypoxanthine guanine phospho-ribosyltransferase 1 deficiency",
          "hypoxanthine guanine phosphoribosyltransferase 1 deficiency",
          "hypoxanthine-guanine-phosphoribosyltransferase deficiency (& [Lesch - Nyhan syndrome])"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Lesch-Nyhan syndrome (LNS) is the most severe form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction (UAO), neurological troubles, and behavioral problems."
      },
      "child_count": 2,
      "reference_id": "MONDO:0010298"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 11470,
      "label": "Lesch-Nyhan syndrome"
    }
  ]
}