Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
302
|
18
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
|
|
|
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
45
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hematochezia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.100 |
None |
|
0 |
|
|
|
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.030 |
None |
1.000 |
3 |
4
|
2005 |
2017 |
Hypopigmentation disorder
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
126
|
15
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2019 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.020 |
None |
0.500 |
2 |
|
2006 |
2017 |
Urinary Bladder, Underactive
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
20
|
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2019 |
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
54
|
6
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2017 |
Hemophagocytic Syndrome
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
25
|
3
|
0.020 |
None |
1.000 |
2 |
|
2017 |
2019 |
CONSTRICTING BANDS, CONGENITAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
16
|
1
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2003 |
Usher syndrome, type 1B
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
1
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Idiopathic Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
803
|
63
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Bartter syndrome, type 3
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
9
|
10
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
USHER SYNDROME, TYPE IB (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
11
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
HERMANSKY-PUDLAK SYNDROME 3
|
disease |
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Vomiting
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
303
|
23
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
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 |
|
2000 |
2000 |
HERMANSKY-PUDLAK SYNDROME 4
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Benign Prostatic Hyperplasia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
770
|
91
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Chediak-Higashi Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
41
|
14
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |