Cystinuria

Symptom Information:

Symptom ID: HPO:0003131
Synonyms:
Cystinuria [OMIM:Cystinuria]
Cystinuria [MedDRA:10011778]
Quality:
Cross references:
OMIM: "Cystinuria" [OMIM:Cystinuria]
UMLS:C0010691 "Cystinuria" [HPO:0003131]
Is a (Direct Parents):
HPO         Abnormality of cysteine metabolism
HPO         Aminoaciduria
MedDRA Abnormality of amino acid metabolism
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)
                   Cystinuria(HPO:0003131)
          Abnormality of carboxylic acid metabolism(HPO:0004354)
             Abnormality of amino acid metabolism(HPO:0004337)
                Abnormality of sulfur amino acid metabolism(HPO:0004339)
                   Abnormality of cysteine metabolism(HPO:0010918)
                      Cystinuria(HPO:0003131)
                Aminoaciduria(HPO:0003355)
                   Cystinuria(HPO:0003131)
       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)
                         Cystinuria(HPO:0003131)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Metabolic and nutritional disorders congenital(MedDRA:10027424)
       Abnormality of amino acid metabolism(HPO:0004337)
          Cystinuria(HPO:0003131)
Metabolism and nutrition disorders(MedDRA:10027433)
    Protein and amino acid metabolism disorders NEC(MedDRA:10037008)
       Amino acid metabolism disorders NEC(MedDRA:10036999)
          Abnormality of amino acid metabolism(HPO:0004337)
             Cystinuria(HPO:0003131)
Investigations(MedDRA:10022891)
    Protein and chemistry analyses NEC(MedDRA:10037000)
       Protein analyses NEC(MedDRA:10036998)
          Abnormality of amino acid metabolism(HPO:0004337)
             Cystinuria(HPO:0003131)
Database Frequency: 6 / 7739
Resource:

All diseases associated with this symptom:

Cystinuria (Orphanet:214)
Cystinuria type A (Orphanet:93612)
Cystinuria type B (Orphanet:93613)
DIAMINOPENTANURIA (OMIM:222350)
Hypotonia - cystinuria syndrome (Orphanet:163690)
Pyruvate carboxylase deficiency (Orphanet:3008)