{
  "id": 11147,
  "label": "hemolytic anemia due to pyrimidine 5' nucleotidase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009946",
  "properties": {
    "xrefs": [
      "DOID:0051007",
      "GARD:0016635",
      "MEDGEN:341470",
      "MESH:C564859",
      "OMIM:266120",
      "Orphanet:35120",
      "UMLS:C1849507"
    ],
    "synonyms": [
      "P5N deficiency",
      "UMPH1 deficiency",
      "anemia, congenital, nonspherocytic hemolytic, 8",
      "anemia, hemolytic, due to UMPH1 deficiency",
      "hemolytic anemia due to P5N deficiency",
      "hemolytic anemia due to UMPH1 deficiency",
      "pyrimidine 5-prime nucleotidase deficiency, hemolytic anaemia due to",
      "pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to",
      "uridine 5'-monophosphate hydrolase deficiency",
      "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anaemia due to",
      "uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to",
      "hemolytic anaemia due to P5N deficiency",
      "hemolytic anaemia due to UMPH1 deficiency"
    ],
    "categories": [
      {
        "ref": "MONDO:0005570",
        "name": "hematologic disorder"
      }
    ],
    "definition": "Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency is a rare, hereditary, hemolytic anemia due to an erythrocyte nucleotide metabolism disorder characterized by mild to moderate hemolytic anemia associated with basophilic stippling and the accumulation of high concentrations of pyrimidine nucleotides within the erythrocyte. Patients present with variable features of jaundice, splenomegaly, hepatomegaly, gallstones, and sometimes require transfusions. Rare cases of mild development delay and learning difficulties are reported."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7998,
      "label": "congenital nonspherocytic hemolytic anemia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3000,
        5573,
        18953
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2861",
          "EFO:1000641",
          "GARD:0024433",
          "ICD9:282.3",
          "MEDGEN:284",
          "MESH:D000746",
          "OMIMPS:300908",
          "SCTID:301317008",
          "UMLS:C0002882"
        ],
        "synonyms": [
          "anemia, congenital, nonspherocytic hemolytic"
        ],
        "categories": [
          {
            "ref": "MONDO:0005570",
            "name": "hematologic disorder"
          }
        ],
        "definition": "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase."
      },
      "child_count": 30,
      "reference_id": "MONDO:0006506"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7998,
      "label": "congenital nonspherocytic hemolytic anemia"
    },
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism"
    }
  ]
}