{
  "id": 19738,
  "label": "vitamin B12- and folate-independent constitutional megaloblastic anemia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020112",
  "properties": {
    "xrefs": [
      "GARD:0019464",
      "MEDGEN:1842832",
      "Orphanet:98415",
      "UMLS:C5681710"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 3888,
      "label": "megaloblastic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4395
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13382",
          "HP:0001889",
          "ICD9:281.3",
          "MEDGEN:1527",
          "NANDO:2100176",
          "NANDO:2200612",
          "NCIT:C34382",
          "SCTID:53165003",
          "UMLS:C0002888"
        ],
        "synonyms": [
          "megaloblastic anaemia (disease)",
          "megaloblastic anemia",
          "megaloblastic anemia (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Anemia characterized by the presence of unusually large erythroblasts in the bone marrow called megaloblasts. It is usually caused by vitamin B12 or folic acid deficiency. Other causes include toxins and drugs."
      },
      "child_count": 6,
      "reference_id": "MONDO:0001700"
    },
    {
      "id": 17107,
      "label": "hereditary anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3835,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020669",
          "MEDGEN:1842172",
          "Orphanet:248296",
          "UMLS:C5680695"
        ],
        "synonyms": [
          "constitutional deficiency anemia",
          "constitutional rare deficiency anaemia",
          "constitutional rare deficiency anemia",
          "inherited deficiency anemia"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 28,
      "reference_id": "MONDO:0016624"
    }
  ],
  "children": [
    {
      "id": 10796,
      "label": "thiamine-responsive megaloblastic anemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2745,
        7611,
        19738
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009575"
    },
    {
      "id": 11007,
      "label": "orotic aciduria",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19102,
        19738
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050833",
          "GARD:0005429",
          "MEDGEN:472940",
          "MedDRA:10052621",
          "NANDO:2200590",
          "NCIT:C98944",
          "NORD:1942",
          "OMIM:258900",
          "Orphanet:30",
          "SCTID:47641009",
          "UMLS:C0220987",
          "icd11.foundation:449856959"
        ],
        "synonyms": [
          "Hereditary Orotic Aciduria",
          "orotic aciduria",
          "oroticaciduria",
          "orotidylic decarboxylase deficiency",
          "uridine monophosphate synthetase deficiency",
          "OPRT and ODC deficiency",
          "UMP synthtase deficiency",
          "UMPS",
          "Ump synthase deficiency",
          "Umps deficiency",
          "hereditary orotic aciduria",
          "orotate phosphoribosyltransferase and OMP decarboxylase deficiency",
          "orotate phosphoribosyltransferase and orotidylic decarboxylase deficiency",
          "orotic aciduria 1",
          "orotic aciduria II (formerly)",
          "orotic aciduria type 1",
          "orotic aciduria without megaloblastic Anaemia",
          "orotic aciduria without megaloblastic Anemia",
          "oroticaciduria 1",
          "orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency",
          "uridine monophosphate synthase deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "An extremely rare autosomal recessive inherited disorder caused by mutations in the UMPS gene. It is characterized by deficiency of the activity of the pyrimidine pathway enzyme uridine 5'-monophosphate (UMP) synthase. Clinical manifestations include growth retardation, anemia, and increased excretion of orotic acid in the urine."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009797"
    }
  ],
  "roots": [
    {
      "id": 3888,
      "label": "megaloblastic anemia"
    },
    {
      "id": 17107,
      "label": "hereditary anemia"
    }
  ]
}