{
  "id": 12708,
  "label": "glycine encephalopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011612",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 5,
  "parents": [
    {
      "id": 6510,
      "label": "inborn disorder of amino acid metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059,
        22986
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9252",
          "GARD:0006770",
          "ICD9:270",
          "ICD9:270.9",
          "MEDGEN:1857273",
          "MESH:D000592",
          "NCIT:C97090",
          "SCTID:42930003",
          "UMLS:C5886841"
        ],
        "synonyms": [
          "inborn cellular amino acid metabolic process disorder",
          "inborn error of amino acid metabolism",
          "inborn error of cellular amino acid metabolic process",
          "inherited amino acid metabolic disorder",
          "rare inborn error of cellular amino acid metabolic process",
          "amino acid metabolic disorder",
          "amino acid metabolism, inborn errors",
          "inborn amino acid metabolism disorder"
        ],
        "definition": "An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria."
      },
      "child_count": 66,
      "reference_id": "MONDO:0004736"
    },
    {
      "id": 7209,
      "label": "brain disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:936",
          "EFO:0005774",
          "ICD9:348.3",
          "ICD9:348.30",
          "ICD9:348.8",
          "ICD9:348.9",
          "MEDGEN:14214",
          "MESH:D001927",
          "NCIT:C96413",
          "SCTID:81308009",
          "UMLS:C0006111"
        ],
        "synonyms": [
          "brain disease",
          "brain disease or disorder",
          "disease of brain",
          "disease or disorder of brain",
          "disorder of brain",
          "encephalopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease affecting the brain or part of the brain."
      },
      "child_count": 71,
      "reference_id": "MONDO:0005560"
    },
    {
      "id": 19103,
      "label": "inborn disorder of serine family metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19059
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018968",
          "MEDGEN:1842840",
          "Orphanet:79194",
          "UMLS:C5681286"
        ],
        "synonyms": [
          "inborn disorder of serine or glycine metabolism",
          "inborn error of serine family amino acid metabolic process",
          "inborn serine family amino acid metabolic process disorder",
          "rare inborn error of serine family amino acid metabolic process",
          "disorder of serine or glycine metabolism"
        ],
        "definition": "An inherited metabolic disease that is has its basis in the disruption of serine family amino acid metabolic process."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019239"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 15986,
      "label": "atypical glycine encephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12708
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017334",
          "MEDGEN:934910",
          "OMIM:617301",
          "Orphanet:289863",
          "UMLS:C4310943",
          "icd11.foundation:51420481"
        ],
        "synonyms": [
          "atypical NKA",
          "atypical non-ketotic hyperglycinemia",
          "GLYCINE encephalopathy with normal serum GLYCINE",
          "Glycine encephalopathy with normal serum Glycine"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE."
      },
      "child_count": 0,
      "reference_id": "MONDO:0015010"
    },
    {
      "id": 17670,
      "label": "neonatal glycine encephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12708
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017332",
          "MEDGEN:1785446",
          "NANDO:1200985",
          "Orphanet:289857",
          "UMLS:C5548200",
          "icd11.foundation:414151121"
        ],
        "synonyms": [
          "classic glycine encephalopathy",
          "neonatal NKH",
          "neonatal non-ketotic hyperglycinemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017353"
    },
    {
      "id": 17671,
      "label": "infantile glycine encephalopathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12708
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017354"
    },
    {
      "id": 25853,
      "label": "glycine encephalopathy 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12708
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070616",
          "GARD:0026956",
          "OMIM:605899"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958179"
    },
    {
      "id": 25866,
      "label": "glycine encephalopathy 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12708
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0061001",
          "GARD:0026967",
          "MEDGEN:1841195",
          "OMIM:620398",
          "UMLS:C5830559"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958192"
    }
  ],
  "roots": [
    {
      "id": 6510,
      "label": "inborn disorder of amino acid metabolism"
    },
    {
      "id": 7209,
      "label": "brain disorder"
    },
    {
      "id": 19103,
      "label": "inborn disorder of serine family metabolism"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}