Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.650 |
None |
1.000 |
17 |
6
|
2002 |
2020 |
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
13
|
0.600 |
None |
1.000 |
20 |
13
|
2002 |
2014 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
40
|
0.500 |
None |
1.000 |
24 |
3
|
2003 |
2020 |
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
21
|
0.400 |
strong |
1.000 |
14 |
1
|
2002 |
2011 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.400 |
None |
1.000 |
1 |
2
|
1998 |
1998 |
Muscular Dystrophies, Limb-Girdle
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
118
|
37
|
0.300 |
limited |
1.000 |
1 |
|
2015 |
2015 |
Autoimmune Diseases
|
group |
Immune System Diseases
|
Disease or Syndrome
|
1758
|
428
|
0.300 |
None |
1.000 |
1 |
|
1998 |
1998 |
Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
13
|
0.300 |
None |
|
0 |
|
|
|
Major Depressive Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1236
|
1451
|
0.110 |
None |
1.000 |
2 |
1
|
2018 |
2018 |
Diastolic blood pressure
|
phenotype |
|
Clinical Attribute
|
507
|
1037
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2017 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
2 |
2
|
2016 |
2019 |
Arthrogryposis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
198
|
33
|
0.100 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Mood Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
580
|
308
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Tonometry
|
phenotype |
|
Diagnostic Procedure
|
206
|
573
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Waist-Hip Ratio
|
phenotype |
|
Organism Attribute
|
565
|
1138
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
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 |
Early severe fetal akinesia sequence
|
phenotype |
|
Finding
|
12
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2020 |
2020 |
Eosinophil count procedure
|
phenotype |
|
Laboratory Procedure
|
610
|
1144
|
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 |
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Ankle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|