Hermanski-Pudlak Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
70
|
59
|
0.670 |
strong |
1.000 |
7 |
11
|
2002 |
2019 |
HERMANSKY-PUDLAK SYNDROME 4
|
disease |
|
Disease or Syndrome
|
2
|
9
|
0.610 |
strong |
1.000 |
11 |
9
|
1978 |
2018 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.320 |
None |
1.000 |
2 |
1
|
2013 |
2013 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
strong |
1.000 |
1 |
|
2002 |
2002 |
Platelet Storage Pool Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
1
|
0.200 |
None |
1.000 |
8 |
|
1978 |
2002 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.170 |
None |
1.000 |
7 |
|
2003 |
2019 |
Albinism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
46
|
27
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Ischemic stroke
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
1159
|
704
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Blood Protein Measurement
|
phenotype |
|
Laboratory Procedure
|
1156
|
2575
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
25
|
4
|
0.100 |
None |
|
0 |
|
|
|
Increased tendency to bruise
|
phenotype |
Wounds and Injuries
|
Finding
|
133
|
14
|
0.100 |
None |
|
0 |
|
|
|
Horizontal Nystagmus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
48
|
11
|
0.100 |
None |
|
0 |
|
|
|
Restrictive ventilatory defect
|
phenotype |
|
Finding
|
61
|
8
|
0.100 |
None |
|
0 |
|
|
|
Reduced visual acuity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
147
|
10
|
0.100 |
None |
|
0 |
|
|
|
Abnormal platelet granules
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Albinism, Ocular
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
37
|
10
|
0.100 |
None |
|
0 |
|
|
|
Menorrhagia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
34
|
6
|
0.100 |
None |
|
0 |
|
|
|
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
|
|
|
Hantavirus Infections
|
group |
Infections
|
Disease or Syndrome
|
108
|
10
|
0.070 |
None |
1.000 |
7 |
1
|
2002 |
2019 |
Albinism, Oculocutaneous
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
49
|
45
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2019 |
Blood Coagulation Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
267
|
31
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Dyspnea
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
222
|
26
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Coinfection
|
phenotype |
Infections
|
Disease or Syndrome
|
252
|
11
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |