{
  "id": 20777,
  "label": "arakawa syndrome 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021915",
  "properties": {
    "xrefs": [
      "GARD:0008265",
      "MEDGEN:75697",
      "MESH:C537426",
      "NANDO:2201111",
      "NCIT:C99081",
      "SCTID:89579000",
      "UMLS:C0268611"
    ],
    "synonyms": [
      "Arakawa syndrome II",
      "Arakawa's syndrome 2",
      "Arakawa's syndrome II",
      "homocystinuria-megaloblastic Anemia, cblG complementation type",
      "methionine synthase deficiency",
      "methylcobalamin deficiency, cblG type",
      "tetrahydrofolate methyltransferase deficiency",
      "N5-methylhomocysteine transferase deficiency",
      "tetrahydrofolate-methyltransferase deficiency syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A rare autosomal dominant inherited metabolic disorder characterized by deficiency of the enzyme tetrahydrofolate-methyltransferase. It results in the abnormal metabolism of methylcobalamin. Signs and symptoms include mental retardation, megaloblastic anemia, hypotonia, epilepsy, and hepatosplenomegaly."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6510,
      "label": "inborn disorder of amino acid metabolism"
    }
  ]
}