Oroticaciduria

Symptom Information:

Symptom ID: HPO:0003218
Synonyms:
OROTIC ACIDURIA [HPO:0003218]
Orotic aciduria [OMIM:Orotic aciduria]
Oroticaciduria [MedDRA:10052621]
High urinary orotic acid [OMIM,cm]
Quality:
Cross references:
OMIM: "Orotic aciduria" [OMIM:Orotic aciduria]
UMLS:C0268128 "Oroticaciduria" [HPO:0003218]
Is a (Direct Parents):
HPO         Abnormality of orotic acid metabolism
MedDRA Disorders of pyrimidine metabolism
HPO         Acidosis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of monocarboxylic acid metabolism(HPO:0010996)
                Abnormality of orotic acid metabolism(HPO:0010928)
                   Oroticaciduria(HPO:0003218)
          Abnormality of acid-base homeostasis(HPO:0004360)
             Acidosis(HPO:0001941)
                Oroticaciduria(HPO:0003218)
          Abnormality of nucleobase metabolism(HPO:0010932)
             Abnormality of pyrimidine metabolism(HPO:0004353)
                Abnormality of orotic acid metabolism(HPO:0010928)
                   Oroticaciduria(HPO:0003218)
MedDRA:
Metabolism and nutrition disorders(MedDRA:10027433)
    Purine and pyrimidine metabolism disorders(MedDRA:10037546)
       Disorders of pyrimidine metabolism(MedDRA:10070969)
          Oroticaciduria(HPO:0003218)
Database Frequency: 10 / 7739
Resource:

All diseases associated with this symptom:

Argininemia (Orphanet:90)
Argininosuccinic aciduria (Orphanet:23)
Citrullinemia type I (Orphanet:247525)
Citrullinemia type II (Orphanet:247585)
Combined oxidative phosphorylation defect type 17 (Orphanet:369913)
Hereditary orotic aciduria (Orphanet:30)
Hyperinsulinism-hyperammonemia syndrome (Orphanet:35878)
Hyperornithinemia-hyperammonemia-homocitrullinuria (Orphanet:415)
Lysinuric protein intolerance (Orphanet:470)
Ornithine transcarbamylase deficiency (Orphanet:664)