MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.810 |
strong |
1.000 |
8 |
8
|
2004 |
2019 |
Pena-Shokeir syndrome type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
40
|
21
|
0.730 |
strong |
1.000 |
4 |
4
|
2009 |
2019 |
Myasthenic Syndromes, Congenital
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
40
|
0.370 |
strong |
1.000 |
8 |
2
|
2008 |
2019 |
Myasthenia Gravis
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
336
|
93
|
0.340 |
None |
1.000 |
6 |
|
2007 |
2016 |
Myasthenia Gravis, Generalized
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
8
|
|
0.310 |
None |
1.000 |
3 |
|
2008 |
2016 |
Myasthenia Gravis, Ocular
|
disease |
Neoplasms; Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2016 |
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 |
|
|
|
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Ankle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Bilateral ptosis
|
phenotype |
Eye Diseases
|
Finding
|
50
|
14
|
0.100 |
None |
|
0 |
2
|
|
|
Long philtrum
|
phenotype |
|
Finding
|
282
|
16
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Ankylosis of the elbow joint
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Short palpebral fissure
|
phenotype |
|
Finding
|
91
|
16
|
0.100 |
None |
|
0 |
|
|
|
Telecanthus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Finding
|
134
|
14
|
0.100 |
None |
|
0 |
|
|
|
Thin rib
|
phenotype |
|
Finding
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Shoulder girdle weakness
|
phenotype |
|
Finding
|
39
|
4
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Hypokinesia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
47
|
2
|
0.100 |
None |
|
0 |
|
|
|
Premature Birth
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
192
|
50
|
0.100 |
None |
|
0 |
|
|
|
Gowers sign
|
phenotype |
|
Finding
|
54
|
8
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age (disorder)
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
181
|
34
|
0.100 |
None |
|
0 |
|
|
|
Neck muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
49
|
1
|
0.100 |
None |
|
0 |
|
|
|
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|