{
  "id": 10796,
  "label": "thiamine-responsive megaloblastic anemia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009575",
  "properties": {
    "xrefs": [
      "DOID:0090117",
      "GARD:0009210",
      "MEDGEN:83338",
      "MESH:C536510",
      "OMIM:249270",
      "Orphanet:49827",
      "SCTID:237617006",
      "UMLS:C0342287"
    ],
    "synonyms": [
      "Rogers syndrome",
      "THMD1",
      "TRMA",
      "thiamine metabolism dysfunction syndrome 1",
      "thiamine-responsive anemia syndrome",
      "thiamine-responsive megaloblastic anemia syndrome",
      "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness",
      "thiamine-responsive myelodysplasia",
      "megaloblastic anaemia thiamine-responsive with diabetes mellitus and sensorineural deafness",
      "megaloblastic anemia thiamine-responsive with diabetes mellitus and sensorineural deafness",
      "thiamine responsive megaloblastic anaemia syndrome",
      "thiamine responsive megaloblastic anemia syndrome",
      "thiamine-responsive Anaemia syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17859
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022716",
          "OMIMPS:249270"
        ],
        "synonyms": [
          "thiamine-responsive dysfunction syndrome"
        ],
        "definition": "A disorder of thiamine metabolism and transport results from deficiency of thiamine metabolism, comprises a group of clinically and genetically heterogeneous encephalopathies with autosomal recessive inheritance."
      },
      "child_count": 5,
      "reference_id": "MONDO:0000152"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 19738,
      "label": "vitamin B12- and folate-independent constitutional megaloblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3888,
        17107
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019464",
          "MEDGEN:1842832",
          "Orphanet:98415",
          "UMLS:C5681710"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0020112"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2745,
      "label": "thiamine-responsive dysfunction syndrome"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 19738,
      "label": "vitamin B12- and folate-independent constitutional megaloblastic anemia"
    }
  ]
}