Carnosinuria

Symptom Information:

Symptom ID: HPO:0003167
Synonyms:
Carnosinuria [OMIM:Carnosinuria]
Quality:
Cross references:
OMIM: "Carnosinuria" [OMIM:Carnosinuria]
UMLS:C0268632 "Carnosinuria" [HPO:0003167]
Is a (Direct Parents):
HPO         Aminoaciduria
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)
                Aminoaciduria(HPO:0003355)
                   Carnosinuria(HPO:0003167)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Aminoaciduria(HPO:0003355)
                   Carnosinuria(HPO:0003167)
       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)
                      Aminoaciduria(HPO:0003355)
                         Carnosinuria(HPO:0003167)
MedDRA:
Database Frequency: 3 / 7739
Resource:

All diseases associated with this symptom:

Carnosinemia (Orphanet:1361)
Homocarnosinosis (Orphanet:2168)
MUSCULAR DYSTROPHY, CARDIAC TYPE (OMIM:309930)