Tubular Atrophy Assessment
|
phenotype |
|
Diagnostic Procedure
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal tubulopathy
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Enlargement of the ankles
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Enlargement of the wrists
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal irregularity
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Tibial bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Increased serum 1,25-dihydroxyvitamin D3
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Bulging epiphyses
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Sparse bone trabeculae
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Hypophosphatemic Rickets, X-Linked Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
54
|
122
|
0.300 |
None |
|
0 |
|
|
|
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
0.100 |
None |
|
0 |
|
|
|
Thin bony cortex
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Phosphate Diabetes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
|
0.100 |
None |
|
0 |
|
|
|
Microscopic hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Aminoaciduria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
68
|
1
|
0.100 |
None |
|
0 |
|
|
|
Low-molecular-weight proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
4
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Renal phosphate wasting
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
strong |
|
0 |
|
|
|
Multiple small medullary renal cysts
|
disease |
|
Disease or Syndrome
|
6
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Fibular bowing
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
NEPHROLITHIASIS, X-LINKED RECESSIVE
|
disease |
|
Finding
|
1
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Adult Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
47
|
|
0.100 |
None |
|
0 |
|
|
|
Increased fracture rate
|
phenotype |
|
Finding
|
123
|
|
0.100 |
None |
|
0 |
|
|
|