{
  "id": 17034,
  "label": "atypical hypotonia-cystinuria syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016539",
  "properties": {
    "xrefs": [
      "GARD:0017175",
      "MEDGEN:1668791",
      "Orphanet:238523",
      "UMLS:C4755274",
      "icd11.foundation:1982772708"
    ],
    "synonyms": [
      "atypical HCS"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A form of hypotonia-cystinuria syndrome characterized by mild to moderate intellectual disability in addition to classic hypotonia-cystinuria syndrome phenotype (cystinuria type 1, generalized hypotonia, poor feeding, growth retardation, and minor facial dysmorphism)."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12759,
      "label": "hypotonia-cystinuria syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5908,
        17309,
        19084
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060858",
          "GARD:0016998",
          "MEDGEN:341133",
          "MESH:C564710",
          "OMIM:606407",
          "Orphanet:163690",
          "Orphanet:238517",
          "SCTID:721173005",
          "UMLS:C1848030",
          "icd11.foundation:1742079513",
          "icd11.foundation:1852649756"
        ],
        "synonyms": [
          "HCS",
          "cystinuria with mitochondrial disease",
          "hypotonia-cystinuria syndrome",
          "hypotonia-cystinuria syndrome type 1",
          "hypotonia-cystinuria type 1 syndrome",
          "homozygous 2P16 deletion syndrome",
          "homozygous 2P16 deletion syndrome, formerly",
          "homozygous 2P21 deletion syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011669"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12759,
      "label": "hypotonia-cystinuria syndrome"
    }
  ]
}