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
|
0.530 |
limited |
1.000 |
3 |
|
2009 |
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
|
0.410 |
limited |
1.000 |
1 |
|
2016 |
2016 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.400 |
limited |
1.000 |
1 |
|
2016 |
2016 |
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
|
0.400 |
None |
1.000 |
1 |
|
2016 |
2016 |
HERMANSKY-PUDLAK SYNDROME 10
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.400 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Blood Platelet Disorders
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
59
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Seizures
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
2152
|
553
|
0.300 |
limited |
1.000 |
1 |
|
2016 |
2016 |
Platelet Storage Pool Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
1
|
0.210 |
None |
1.000 |
5 |
|
1975 |
2016 |
HERMANSKY-PUDLAK SYNDROME 2
|
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
|
5
|
10
|
0.200 |
None |
1.000 |
4 |
|
1975 |
2004 |
Albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells
|
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
|
9
|
9
|
0.200 |
None |
|
0 |
|
|
|
Myocardial Infarction
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
1800
|
680
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
2 |
2
|
2019 |
2019 |
Lean body mass
|
phenotype |
|
Clinical Attribute
|
144
|
211
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Waist-Hip Ratio
|
phenotype |
|
Organism Attribute
|
565
|
1138
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hemoglobin measurement
|
phenotype |
|
Laboratory Procedure
|
131
|
224
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
|
disease |
|
Finding
|
578
|
1158
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Corpuscular Hemoglobin Concentration Mean
|
phenotype |
|
Laboratory or Test Result
|
401
|
4389
|
0.100 |
None |
1.000 |
1 |
4
|
2012 |
2012 |
Hematocrit procedure
|
phenotype |
|
Laboratory Procedure
|
138
|
216
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
White Blood Cell Count procedure
|
phenotype |
|
Laboratory Procedure
|
681
|
1322
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Nystagmus, CTCAE 5.0
|
phenotype |
|
Finding
|
779
|
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
|
|
|
Tonic - clonic seizures
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
300
|
32
|
0.100 |
None |
|
0 |
|
|
|