Bicarbonate-wasting renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Metabolic acidosis, NAG, acidifying salts
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Increased red cell osmotic resistance
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
5
|
0.700 |
strong |
1.000 |
7 |
5
|
1999 |
2008 |
Renal Tubular Acidosis, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
4
|
0.500 |
None |
1.000 |
26 |
3
|
2000 |
2019 |
Renal tubular acidosis
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
52
|
3
|
0.540 |
None |
1.000 |
5 |
|
2000 |
2011 |
Autosomal Recessive Osteopetrosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
24
|
3
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Alkalosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Corneal calcification
|
phenotype |
|
Anatomical Abnormality
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Potassium depletion
|
disease |
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.440 |
None |
1.000 |
5 |
|
2001 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.140 |
None |
1.000 |
4 |
|
2001 |
2018 |
Bilateral cataracts (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
166
|
37
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2014 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2004 |
Bilateral glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Nephrogenic Diabetes Insipidus
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
60
|
41
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Renal Cell Carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
2084
|
288
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.430 |
None |
1.000 |
4 |
|
2004 |
2018 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.210 |
None |
1.000 |
2 |
|
2004 |
2015 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Nasal Polyps
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
484
|
34
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Corneal Dystrophy, Band-Shaped
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
7
|
3
|
0.120 |
None |
1.000 |
2 |
|
2006 |
2018 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Pseudoaphakia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
28
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |