Dent's disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
23
|
12
|
0.900 |
None |
0.949 |
78 |
12
|
1978 |
2019 |
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 |
|
|
|
Classical Lissencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
25
|
97
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Tibial bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
25
|
|
0.100 |
None |
|
0 |
|
|
|
Fanconi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
4
|
0.010 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Hypophosphatemic Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
29
|
6
|
0.120 |
None |
1.000 |
2 |
|
2012 |
2017 |
Hyperkalemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
32
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Metaphyseal irregularity
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Proximal tubulopathy
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Femoral bowing
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
38
|
13
|
0.100 |
None |
|
0 |
|
|
|
Familial Hypophosphatemic Rickets
|
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
|
43
|
15
|
0.320 |
None |
1.000 |
2 |
|
2012 |
2017 |
Bartter Disease
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
47
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Cartilaginous exostosis
|
disease |
Neoplasms; Musculoskeletal Diseases
|
Neoplastic Process
|
47
|
2
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adult Rickets
|
disease |
Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
47
|
|
0.100 |
None |
|
0 |
|
|
|
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 |
|
|
|
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.010 |
None |
< 0.001 |
1 |
|
2019 |
2019 |
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 |
|
|
|
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
|
0.010 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Glycosuria
|
phenotype |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
53
|
7
|
0.100 |
None |
|
0 |
|
|
|
Oculocerebrorenal Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
42
|
0.040 |
None |
1.000 |
4 |
|
2006 |
2017 |
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 |
|
|
|
Hypomagnesemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
58
|
11
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypercalciuria
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
60
|
5
|
0.100 |
None |
|
0 |
|
|
|
Genu varum
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
60
|
6
|
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 |