{
  "id": 11007,
  "label": "orotic aciduria",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009797",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19115,
        22988
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050832",
          "GARD:0018967",
          "MEDGEN:541208",
          "MedDRA:10070969",
          "Orphanet:79193",
          "UMLS:C0268127",
          "icd11.foundation:771608363"
        ],
        "synonyms": [
          "inborn error of pyrimidine nucleobase metabolic process",
          "inborn pyrimidine nucleobase metabolic process disorder",
          "pyrimidine metabolic disorder",
          "rare inborn error of pyrimidine nucleobase metabolic process",
          "disorder of pyrimidine metabolism"
        ],
        "definition": "ANPM"
      },
      "child_count": 18,
      "reference_id": "MONDO:0019238"
    },
    {
      "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": [
    {
      "id": 24912,
      "label": "orotic aciduria without megaloblastic anemia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        11007
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026493",
          "MEDGEN:480252",
          "UMLS:C3278622"
        ],
        "synonyms": [
          "OAWA"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0800308"
    }
  ],
  "roots": [
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism"
    },
    {
      "id": 19738,
      "label": "vitamin B12- and folate-independent constitutional megaloblastic anemia"
    }
  ]
}