{
  "id": 11313,
  "label": "dihydropyrimidine dehydrogenase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010130",
  "properties": {
    "xrefs": [
      "DOID:14218",
      "GARD:0000019",
      "ICD9:277.2",
      "MEDGEN:409522",
      "MESH:D054067",
      "MedDRA:10052622",
      "NCIT:C84672",
      "OMIM:274270",
      "Orphanet:1675",
      "SCTID:77365006",
      "UMLS:C1959620",
      "icd11.foundation:701689290"
    ],
    "synonyms": [
      "DYPD deficiency",
      "dihydropyrimidine dehydrogenase deficiency",
      "dihydrouracil dehydrogenase deficiency",
      "familial pyrimidinaemia",
      "familial pyrimidinemia",
      "thymine-uracilurea",
      "DPD deficiency",
      "Dpyd deficiency",
      "hereditary thymine-uraciluria",
      "pyrimidinemia, familial",
      "thymine-Uraciluria, hereditary"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Dihydropyrimidine dehydrogenase (DPD) deficiency isaconditionin which the body cannot break down the nucleotides thymine and uracil. DPD deficiency can have a wide range of severity; some individuals may have various neurological problems, while others have no signsand symptoms. Signs and symptoms in severely affected individuals begin in infancy and may include seizures, intellectual disability, microcephaly, increased muscle tone (hypertonia), delayed motor skills, and autistic behavior. All individuals with the condition, regardless of the presence or severity of symptoms, are at risk for severe, toxic reactions to drugs called fluoropyrimidines which are used to treat cancer. Individuals with no symptoms may be diagnosed only by laboratory testing or after exposure to fluoropyrimidines. DPD deficiency is caused by mutations in the DPYD gene and is inherited in an autosomal recessive manner."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18460,
      "label": "osteochondrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7060
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:8125",
          "GARD:0012704",
          "ICD10CM:M42",
          "ICD9:732.6",
          "MEDGEN:18216",
          "MESH:D055034",
          "NCIT:C34879",
          "Orphanet:399319",
          "SCTID:19579005",
          "UMLS:C0029429",
          "icd11.foundation:1446309782"
        ],
        "synonyms": [
          "osteochondrosis not specified as adult or juvenile, of unspecified site",
          "osteochondritis",
          "osteochondritis juvenilis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A condition that is characterized by defective bone growth that affects the growth centers of bone."
      },
      "child_count": 11,
      "reference_id": "MONDO:0018381"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7060
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021667",
          "MEDGEN:1842788",
          "Orphanet:399380",
          "UMLS:C5680035"
        ],
        "synonyms": [
          "bone necrosis of genetic origin",
          "genetic osteonecrosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of osteonecrosis that is caused by a modification of the individual's genome."
      },
      "child_count": 24,
      "reference_id": "MONDO:0018383"
    },
    {
      "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": 18460,
      "label": "osteochondrosis"
    },
    {
      "id": 18462,
      "label": "osteonecrosis of genetic origin"
    },
    {
      "id": 19102,
      "label": "inborn disorder of pyrimidine metabolism"
    }
  ]
}