{
  "id": 17671,
  "label": "infantile glycine encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017354",
  "properties": {
    "xrefs": [
      "GARD:0017333",
      "MEDGEN:1781124",
      "NANDO:1200986",
      "Orphanet:289860",
      "UMLS:C5548209",
      "icd11.foundation:563302182"
    ],
    "synonyms": [
      "glycine encephalopathy of infancy",
      "infantile NKH",
      "infantile non-ketotic hyperglycinemia",
      "infantile onset glycine encephalopathy"
    ],
    "categories": [
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE), characterized by early hypotonia, developmental delay and seizures."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12708,
      "label": "glycine encephalopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6510,
        7209,
        19103,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9268",
          "GARD:0007219",
          "ICD9:270.7",
          "MEDGEN:155625",
          "NANDO:1200984",
          "NANDO:2200476",
          "NCIT:C84937",
          "NORD:1512",
          "OMIMPS:605899",
          "Orphanet:407",
          "SCTID:237939006",
          "UMLS:C0751748",
          "icd11.foundation:1491869639"
        ],
        "synonyms": [
          "NKA",
          "Nonketotic Hyperglycinemia",
          "glycine encephalopathy",
          "non-ketotic hyperglycinemia",
          "nonketotic hyperglycinemia",
          "GCE",
          "GLYCINE encephalopathy",
          "Glycine synthase deficiency",
          "hyperglycinemia nonketotic",
          "hyperglycinemia, Nonketotic",
          "hyperglycinemia, transient neonatal"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Glycine encephalopathy (GE) is an inborn error of glycine metabolism characterized by accumulation of glycine in body fluids and tissues, including the brain, resulting in neurometabolic symptoms of variable severity."
      },
      "child_count": 20,
      "reference_id": "MONDO:0011612"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12708,
      "label": "glycine encephalopathy"
    }
  ]
}