Familial (FPAH)
|
disease |
|
Disease or Syndrome
|
1075
|
276
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Hypernatriuria
|
disease |
|
Disease or Syndrome
|
17
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Clubbing
|
phenotype |
|
Sign or Symptom
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased circulating renin level
|
phenotype |
|
Finding
|
9
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hyperactive renin-angiotensin system
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Renal salt wasting
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Feeding difficulties in infancy
|
phenotype |
|
Finding
|
305
|
22
|
0.100 |
None |
|
0 |
|
|
|
Recurrent lower respiratory tract infection
|
phenotype |
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Acute infectious pneumonia
|
disease |
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent Haemophilus influenzae infections
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Productive Cough, CTCAE
|
phenotype |
|
Finding
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
LIDDLE SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.100 |
None |
|
0 |
2
|
|
|
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.500 |
None |
1.000 |
10 |
1
|
1996 |
2018 |
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.400 |
None |
1.000 |
1 |
|
2001 |
2001 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
None |
|
0 |
|
|
|
Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
852
|
704
|
0.370 |
None |
1.000 |
7 |
1
|
2006 |
2019 |
Pulmonary Cystic Fibrosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
53
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Fibrocystic Disease of Pancreas
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
9
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Liddle Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
19
|
6
|
0.600 |
strong |
1.000 |
13 |
|
1996 |
2019 |
Pseudohypoaldosteronism, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
19
|
|
0.560 |
None |
1.000 |
7 |
|
1996 |
2013 |
Pseudohypoaldosteronism, Type I, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
10
|
6
|
0.700 |
strong |
1.000 |
5 |
1
|
1996 |
2015 |
Pseudohypoaldosteronism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
19
|
3
|
0.430 |
None |
1.000 |
4 |
|
1996 |
2016 |
Congenital anomaly of the kidney
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
63
|
4
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
20
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
Pseudohypoaldosteronism, Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
27
|
42
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |