Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
302
|
18
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
833
|
95
|
0.100 |
None |
|
0 |
|
|
|
Renal Insufficiency
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
615
|
42
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Freckles in sun-exposed areas
|
phenotype |
|
Finding
|
5
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hematochezia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
37
|
12
|
0.100 |
None |
|
0 |
|
|
|
Gingival Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Pathologic Function
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
45
|
10
|
0.100 |
None |
|
0 |
|
|
|
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 3.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Prolonged bleeding time
|
phenotype |
|
Finding
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Restrictive ventilatory defect
|
phenotype |
|
Finding
|
61
|
8
|
0.100 |
None |
|
0 |
|
|
|
Cardiomyopathies
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
925
|
294
|
0.100 |
None |
|
0 |
|
|
|
Melanocytic nevus
|
disease |
Neoplasms
|
Neoplastic Process
|
297
|
33
|
0.100 |
None |
|
0 |
|
|
|
Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
47
|
|
0.300 |
strong |
1.000 |
1 |
|
1998 |
1998 |
Inflammatory Bowel Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
1577
|
605
|
0.300 |
strong |
1.000 |
1 |
|
1998 |
1998 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Serum albumin measurement
|
phenotype |
|
Laboratory Procedure
|
433
|
3282
|
0.100 |
None |
1.000 |
1 |
15
|
2013 |
2013 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
2
|
2017 |
2017 |
Benign Prostatic Hyperplasia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
770
|
91
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
HERMANSKY-PUDLAK SYNDROME 3
|
disease |
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hypopigmentation-immunodeficiency disease
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
14
|
3
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
HERMANSKY-PUDLAK SYNDROME 4
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |