Vitamin D-Resistant Rickets, X-Linked
|
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
|
48
|
3
|
0.300 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Tubulointerstitial fibrosis
|
phenotype |
|
Disease or Syndrome
|
328
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 3.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
Delayed epiphyseal ossification
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Femoral bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
38
|
13
|
0.100 |
None |
|
0 |
|
|
|
Tubular atrophy
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Slow progression
|
phenotype |
|
Finding
|
165
|
|
0.100 |
None |
|
0 |
|
|
|
Bone Pain, CTCAE 5.0
|
phenotype |
|
Finding
|
67
|
|
0.100 |
None |
|
0 |
|
|
|
X- linked recessive
|
phenotype |
|
Finding
|
172
|
1
|
0.100 |
None |
|
0 |
|
|
|
Bone pain
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Sign or Symptom
|
139
|
|
0.100 |
None |
|
0 |
|
|
|
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.100 |
None |
|
0 |
|
|
|
Glycosuria
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
53
|
7
|
0.100 |
None |
|
0 |
|
|
|
Rickets, X-Linked Hypophosphatemic
|
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
|
23
|
1
|
0.300 |
None |
|
0 |
|
|
|
Hypercalciuria
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hypophosphatemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Hyperkalemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
32
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Glomerulonephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
391
|
7
|
0.100 |
None |
|
0 |
|
|
|
Renal tubular disorder
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
64
|
5
|
0.020 |
None |
1.000 |
2 |
|
1995 |
1997 |
Osteoporosis
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
1098
|
182
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Idiopathic hypercalciuria
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
20
|
1
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2000 |
Channelopathies
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
94
|
8
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Dent Disease 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
7
|
0.200 |
None |
1.000 |
4 |
|
2000 |
2003 |
Renal Tubular Transport, Inborn Errors
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Malignant Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
724
|
22
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |