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
|
0.940 |
None |
1.000 |
18 |
10
|
1981 |
2017 |
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
|
0.500 |
strong |
0.963 |
27 |
4
|
1997 |
2020 |
Pulmonary Fibrosis
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
924
|
25
|
0.420 |
strong |
1.000 |
3 |
|
1999 |
2016 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.320 |
strong |
1.000 |
3 |
|
1999 |
2018 |
Platelet Storage Pool Deficiency
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
22
|
1
|
0.210 |
None |
1.000 |
10 |
|
1981 |
2020 |
Neutropenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
389
|
97
|
0.150 |
None |
1.000 |
5 |
|
2002 |
2018 |
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
|
0.140 |
None |
1.000 |
4 |
|
2002 |
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
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Hantavirus Infections
|
group |
Infections
|
Disease or Syndrome
|
108
|
10
|
0.100 |
None |
1.000 |
22 |
|
1997 |
2019 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
3 |
5
|
2018 |
2019 |
Forced expiratory volume function
|
phenotype |
|
Organ or Tissue Function
|
272
|
1169
|
0.100 |
None |
1.000 |
2 |
4
|
2018 |
2019 |
Osteoarthritis, Knee
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
368
|
150
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
RDW - Red blood cell distribution width result
|
phenotype |
|
Laboratory or Test Result
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Red cell distribution width determination
|
phenotype |
|
Laboratory Procedure
|
593
|
988
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.100 |
None |
1.000 |
1 |
16
|
2017 |
2017 |
Waist-Hip Ratio
|
phenotype |
|
Organism Attribute
|
565
|
1138
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Lean body mass
|
phenotype |
|
Clinical Attribute
|
144
|
211
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Blonde hair
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Low set ears
|
disease |
|
Congenital Abnormality
|
489
|
64
|
0.100 |
None |
|
0 |
|
|
|
Visual Impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
422
|
|
0.100 |
None |
|
0 |
|
|
|
Recurrent bacterial infection
|
phenotype |
Infections
|
Finding
|
69
|
|
0.100 |
None |
|
0 |
|
|
|
Coarse facial features
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
194
|
33
|
0.100 |
None |
|
0 |
|
|
|