{
  "id": 12759,
  "label": "hypotonia-cystinuria syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011669",
  "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."
  },
  "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": 5908,
      "label": "inborn mitochondrial metabolism disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        19107,
        23488
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:700",
          "GARD:0018887",
          "MEDGEN:1778113",
          "MESH:D028361",
          "NANDO:1200173",
          "NANDO:2100163",
          "Orphanet:68380",
          "UMLS:C1456275"
        ],
        "synonyms": [
          "mitochondrial disease",
          "mitochondrial genetic disorders",
          "mitochondrial metabolism disease"
        ],
        "definition": "Diseases caused by abnormal function of the mitochondria. They may be caused by mutations, acquired or inherited, in mitochondrial dna or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes."
      },
      "child_count": 42,
      "reference_id": "MONDO:0004069"
    },
    {
      "id": 17309,
      "label": "partial deletion of the short arm of chromosome 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826019",
          "Orphanet:261866",
          "UMLS:C5679664",
          "icd11.foundation:1610083208"
        ],
        "synonyms": [
          "partial deletion of chromosome 2p",
          "partial deletion of the short arm of chromosome type 2",
          "partial monosomy of chromosome 2p",
          "partial monosomy of the short arm of chromosome 2"
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0016884"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018948",
          "ICD9:270.0",
          "MEDGEN:541381",
          "Orphanet:79166",
          "SCTID:16784003",
          "UMLS:C0268641",
          "icd11.foundation:1631611896"
        ],
        "synonyms": [
          "inborn disorder of amino acid absorption and transport",
          "disorder of amino acid absorption and transport"
        ]
      },
      "child_count": 19,
      "reference_id": "MONDO:0019216"
    }
  ],
  "children": [
    {
      "id": 17034,
      "label": "atypical hypotonia-cystinuria syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12759
      ],
      "type_id": 0,
      "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)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016539"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5908,
      "label": "inborn mitochondrial metabolism disorder"
    },
    {
      "id": 17309,
      "label": "partial deletion of the short arm of chromosome 2"
    },
    {
      "id": 19084,
      "label": "inborn disorder of amino acid transport"
    }
  ]
}