{
  "id": 11470,
  "label": "Lesch-Nyhan syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010298",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "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": 16715,
      "label": "hypoxanthine-guanine phosphoribosyltransferase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19100
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002943",
          "ICD9:277.6",
          "MEDGEN:1852368",
          "NANDO:2200586",
          "Orphanet:206428",
          "SCTID:124275001",
          "UMLS:C5848153",
          "icd11.foundation:1293396861"
        ],
        "synonyms": [
          "HPRT deficiency",
          "HPRT1 deficiency",
          "hypoxanthine-guanine phosphoribosyltransferase 1 deficiency"
        ],
        "definition": "Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a hereditary disorder of purine metabolism associated with uric acid overproduction and a continuum spectrum of neurological manifestations depending on the degree of the enzyme deficiency."
      },
      "child_count": 2,
      "reference_id": "MONDO:0016088"
    }
  ],
  "children": [
    {
      "id": 11788,
      "label": "Lesch-Nyhan phenotype with normal HGPRT",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11470
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024742",
          "MEDGEN:374332",
          "OMIM:308950",
          "UMLS:C1839883"
        ],
        "synonyms": [
          "Lesch-Nyhan phenotype with normal HGPRT"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010642"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16715,
      "label": "hypoxanthine-guanine phosphoribosyltransferase deficiency"
    }
  ]
}