Connective Tissue Diseases
|
group |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
188
|
24
|
0.300 |
limited |
|
0 |
|
|
|
Elevated diastolic blood pressure
|
phenotype |
Cardiovascular Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Elevated systolic blood pressure
|
phenotype |
Cardiovascular Diseases
|
Finding
|
14
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Serum creatinine raised
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
27
|
2
|
0.100 |
None |
|
0 |
|
|
|
Recurrent urinary tract infection
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases
|
Disease or Syndrome
|
237
|
21
|
0.100 |
None |
|
0 |
|
|
|
Multicystic Dysplastic Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
121
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
None |
|
0 |
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
3
|
18
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Autosomal Recessive Polycystic Kidney Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
69
|
317
|
0.170 |
None |
0.857 |
7 |
2
|
1994 |
2019 |
POLYCYSTIC KIDNEY DISEASE 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
39
|
134
|
0.300 |
None |
0.867 |
15 |
|
1996 |
2019 |
Episodic Kinesigenic Dyskinesia 1
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
153
|
18
|
0.100 |
None |
0.882 |
17 |
|
2003 |
2020 |
Polycystic Kidney Diseases
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
276
|
54
|
0.700 |
definitive |
0.963 |
54 |
4
|
1996 |
2019 |
Polycystic Kidney, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
280
|
35
|
1.000 |
definitive |
0.984 |
312 |
18
|
1994 |
2020 |
Polycystic kidney disease, type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
15
|
41
|
0.970 |
None |
1.000 |
36 |
33
|
1995 |
2019 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.200 |
None |
1.000 |
14 |
|
1995 |
2019 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.100 |
None |
1.000 |
14 |
|
1995 |
2019 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
1.000 |
14 |
|
1995 |
2020 |
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
170
|
17
|
0.100 |
None |
1.000 |
12 |
1
|
1999 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
11 |
1
|
1998 |
2015 |
CUI: |
C0010709 |
Disease: |
Cyst
|
Cyst
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Disease or Syndrome
|
221
|
6
|
0.100 |
None |
1.000 |
10 |
1
|
2000 |
2019 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.170 |
None |
1.000 |
7 |
1
|
1996 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.070 |
None |
1.000 |
7 |
|
2006 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.070 |
None |
1.000 |
7 |
|
2003 |
2019 |
Polycystic Kidney, Type 1 Autosomal Dominant Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
10
|
2
|
0.300 |
None |
1.000 |
6 |
|
2002 |
2019 |