Ethylmalonic aciduria

Symptom Information:

Symptom ID: HPO:0003219
Synonyms:
Ethylmalonic aciduria [OMIM:Ethylmalonic aciduria]
Quality:
Cross references:
OMIM: "Ethylmalonic aciduria" [OMIM:Ethylmalonic aciduria]
Is a (Direct Parents):
HPO         Dicarboxylic aciduria
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of urine homeostasis(HPO:0003110)
             Aciduria(HPO:0012072)
                Organic aciduria(HPO:0001992)
                   Dicarboxylic aciduria(HPO:0003215)
                      Ethylmalonic aciduria(HPO:0003219)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of dicarboxylic acid metabolism(HPO:0010995)
                Dicarboxylic aciduria(HPO:0003215)
                   Ethylmalonic aciduria(HPO:0003219)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormality of urine homeostasis(HPO:0003110)
                   Aciduria(HPO:0012072)
                      Organic aciduria(HPO:0001992)
                         Dicarboxylic aciduria(HPO:0003215)
                            Ethylmalonic aciduria(HPO:0003219)
MedDRA:
Database Frequency: 5 / 7739
Resource:

All diseases associated with this symptom:

Alpers syndrome (Orphanet:726)
Combined oxidative phosphorylation defect type 8 (Orphanet:319504)
Ethylmalonic encephalopathy (Orphanet:51188)
Multiple acyl-CoA dehydrogenase deficiency (Orphanet:26791)
Short chain acyl-CoA dehydrogenase deficiency (Orphanet:26792)