Ciliopathies
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
241
7
0.300
None
0
Colorectal Carcinoma
disease
Digestive System Diseases; Neoplasms
Neoplastic Process
5473
1962
0.010
None
1.000
1
2015
2015
Congenital contractural arachnodactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
559
48
0.010
None
1.000
1
2019
2019
Congenital cystic kidney disease
disease
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome; Congenital Abnormality
31
0.010
None
1.000
1
2007
2007
Congenital Heart Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
406
58
0.010
None
1.000
1
2007
2007
Congestive heart failure
disease
Cardiovascular Diseases
Disease or Syndrome
1760
165
0.020
None
1.000
2
2011
2013
Connective Tissue Diseases
group
Skin and Connective Tissue Diseases
Disease or Syndrome
188
24
0.300
limited
0
Craniofacial Abnormalities
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
234
4
0.010
None
1.000
1
2013
2013
×
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
cystic disease
disease
Disease or Syndrome
19
0.040
None
1.000
4
1999
2017
Cystic kidney
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
89
1
0.030
None
1.000
3
1999
2014
Cystic Kidney Diseases
group
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
50
0.010
None
1.000
1
2007
2007
Degenerative Diseases, Central Nervous System
group
Nervous System Diseases
Disease or Syndrome
43
0.300
None
1.000
1
2014
2014
Degenerative Diseases, Spinal Cord
group
Nervous System Diseases
Disease or Syndrome
40
0.300
None
1.000
1
2014
2014
Denys-Drash Syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
Disease or Syndrome
15
24
0.010
None
1.000
1
2014
2014
Dextrocardia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
30
6
0.010
None
1.000
1
2011
2011
Dissection of aorta
disease
Cardiovascular Diseases
Disease or Syndrome
152
16
0.010
None
1.000
1
2018
2018
Dysequilibrium syndrome
disease
Nervous System Diseases
Disease or Syndrome
20
1
0.010
None
1.000
1
2010
2010
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
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
Epithelial cyst
phenotype
Neoplasms
Anatomical Abnormality
38
0.010
None
1.000
1
2008
2008
Familial thoracic aortic aneurysm and aortic dissection
disease
Disease or Syndrome
59
442
0.300
limited
0
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.010
None
1.000
1
2017
2017
Focal glomerulosclerosis
disease
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
281
50
0.010
None
1.000
1
2007
2007