SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
49
|
1.000 |
None |
0.957 |
47 |
49
|
1975 |
2020 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2S
|
disease |
|
Disease or Syndrome
|
1
|
32
|
0.700 |
None |
1.000 |
21 |
32
|
1975 |
2017 |
Motor Neuron Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
186
|
52
|
0.220 |
None |
1.000 |
3 |
|
2004 |
2014 |
Respiratory Failure
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
319
|
23
|
0.140 |
None |
1.000 |
5 |
4
|
2004 |
2016 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.130 |
None |
1.000 |
3 |
6
|
2017 |
2019 |
Respiratory distress
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
|
Sign or Symptom
|
259
|
16
|
0.130 |
None |
1.000 |
3 |
2
|
2007 |
2015 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2014 |
Distal Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
16
|
8
|
0.120 |
None |
0.750 |
4 |
2
|
2002 |
2014 |
Diaphragmatic Eventration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
16
|
6
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Axonal polyneuropathy
|
phenotype |
|
Finding
|
1
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Denervation of the diaphragm
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced fetal movement
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
169
|
17
|
0.100 |
None |
|
0 |
|
|
|
Distal muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
117
|
16
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Decreased nerve conduction velocity
|
phenotype |
|
Finding
|
58
|
5
|
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 |
|
|
|
Progressive muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
44
|
15
|
0.100 |
None |
|
0 |
2
|
|
|
Neonatal Hypotonia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
169
|
45
|
0.100 |
None |
|
0 |
1
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
1
|
|
|
Difficulty walking
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
224
|
30
|
0.100 |
None |
|
0 |
2
|
|
|
Foot dorsiflexor weakness
|
phenotype |
|
Finding
|
70
|
4
|
0.100 |
None |
|
0 |
|
|
|
Small for gestational age fetus
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
156
|
|
0.100 |
None |
|
0 |
|
|
|
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|