Proximal renal tubular acidosis

Symptom Information:

Symptom ID: HPO:0002049
Synonyms:
Proximal tubular acidosis [HPO:0002049]
Renal tubular acidosis, proximal [HPO:0002049]
Renal tubular acidosis, type II [HPO:0002049]
Proximal renal tubular acidosis [OMIM:Proximal renal tubular acidosis]
Renal tubular acidosis, proximal [OMIM:Renal tubular acidosis, proximal]
Quality:
Cross references:
OMIM: "Proximal renal tubular acidosis" [OMIM:Proximal renal tubular acidosis]
OMIM: "Renal tubular acidosis, proximal" [OMIM:Renal tubular acidosis, proximal]
Is a (Direct Parents):
HPO         Renal tubular acidosis
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the genitourinary system(HPO:0000119)
          Abnormality of the urinary system(HPO:0000079)
             Abnormality of the urinary system physiology(HPO:0011277)
                Abnormal renal physiology(HPO:0012211)
                   Renal tubular dysfunction(HPO:0000124)
                      Renal tubular acidosis(HPO:0001947)
                         Proximal renal tubular acidosis(HPO:0002049)
             Abnormality of the upper urinary tract(HPO:0010935)
                Abnormality of the kidney(HPO:0000077)
                   Abnormal renal physiology(HPO:0012211)
                      Renal tubular dysfunction(HPO:0000124)
                         Renal tubular acidosis(HPO:0001947)
                            Proximal renal tubular acidosis(HPO:0002049)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of acid-base homeostasis(HPO:0004360)
             Acidosis(HPO:0001941)
                Renal tubular acidosis(HPO:0001947)
                   Proximal renal tubular acidosis(HPO:0002049)
MedDRA:
Database Frequency: 8 / 7739
Resource:

All diseases associated with this symptom:

Autosomal recessive proximal renal tubular acidosis (Orphanet:93607)
Cleft palate - large ears - small head (Orphanet:2013)
Hereditary fructose intolerance (Orphanet:469)
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Oculocerebrorenal syndrome (Orphanet:534)
Primary Fanconi syndrome (Orphanet:3337)
Proximal renal tubular acidosis (Orphanet:47159)
Pyruvate carboxylase deficiency (Orphanet:3008)