HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY
|
disease |
Pathological Conditions, Signs and Symptoms; 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
|
3
|
19
|
0.800 |
None |
1.000 |
11 |
19
|
2006 |
2019 |
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.170 |
None |
1.000 |
7 |
|
2006 |
2019 |
Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
72
|
16
|
0.130 |
None |
1.000 |
3 |
|
2007 |
2019 |
Hypophosphatemic Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
6
|
0.120 |
None |
1.000 |
2 |
|
2009 |
2009 |
Hypercalciuria
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
5
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Kidney Calculi
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
190
|
71
|
0.100 |
None |
1.000 |
13 |
2
|
2007 |
2019 |
Nephrolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
242
|
99
|
0.100 |
None |
1.000 |
11 |
2
|
2007 |
2019 |
Tibial bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Widely patent fontanelles and sutures
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Bulging of the costochondral junction
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Renal phosphate wasting
|
phenotype |
|
Finding
|
8
|
|
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 |
|
|
|
Increased serum 1,25-dihydroxyvitamin D3
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Bulging epiphyses
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Deformed rib cage
|
phenotype |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Flat occiput
|
phenotype |
|
Finding
|
45
|
6
|
0.100 |
None |
|
0 |
|
|
|
Metaphyseal irregularity
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Calcium nephrolithiasis
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 5.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Fibular bowing
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of abdomen morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|