Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Kidney Failure, Chronic
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
827
|
425
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Degenerative polyarthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1827
|
247
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Peutz-Jeghers Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
79
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Li-Fraumeni Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
76
|
206
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Renal fibrosis
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
570
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Human papilloma virus infection
|
disease |
Infections
|
Disease or Syndrome
|
429
|
42
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Hepatitis C, Chronic
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
430
|
80
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MOHR-TRANEBJAERG SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
89
|
19
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Trichohepatoenteric Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
424
|
28
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Polyposis, Adenomatous Intestinal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
16
|
332
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Familial Intestinal Polyposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Disease or Syndrome
|
16
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
LUSCAN-LUMISH SYNDROME
|
disease |
|
Disease or Syndrome
|
6
|
8
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Intestinal Polyposis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
49
|
3
|
0.100 |
None |
|
0 |
1
|
|
|
Adenomatous colonic polyposis
|
phenotype |
Digestive System Diseases; Neoplasms
|
Finding
|
13
|
5
|
0.100 |
None |
|
0 |
|
|
|
Adult only
|
phenotype |
|
Finding
|
6
|
|
0.300 |
strong |
|
0 |
|
|
|
FAMILIAL ADENOMATOUS POLYPOSIS 2 WITH PILOMATRICOMAS
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Increased level of L-fucose in urine
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Mental Depression
|
disease |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1478
|
271
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Depressive disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1719
|
297
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Mental deterioration
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
508
|
121
|
0.010 |
None |
1.000 |
1 |
4
|
2011 |
2011 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
4
|
2011 |
2011 |
Depressed mood
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
1461
|
269
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |