Ullrich congenital muscular dystrophy 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
34
|
1.000 |
strong |
1.000 |
17 |
11
|
2002 |
2018 |
BETHLEM MYOPATHY 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
17
|
108
|
0.800 |
strong |
1.000 |
29 |
37
|
1993 |
2018 |
DYSTONIA 27
|
disease |
|
Disease or Syndrome
|
1
|
7
|
0.720 |
strong |
1.000 |
4 |
7
|
2002 |
2018 |
Dystonia, Limb
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
42
|
9
|
0.400 |
None |
|
0 |
|
|
|
Dystonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
453
|
97
|
0.340 |
None |
1.000 |
4 |
|
2016 |
2018 |
Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Bilateral Wilms Tumor
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Nephroblastoma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
586
|
125
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Early Pregnancy Loss
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Abortion, Tubal
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Miscarriage
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
426
|
56
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Dystonia, Diurnal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
18
|
|
0.300 |
None |
|
0 |
|
|
|
Dystonia, Paroxysmal
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
28
|
4
|
0.300 |
None |
|
0 |
|
|
|
Congenital hereditary muscular dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
|
0.200 |
None |
1.000 |
1 |
|
2013 |
2013 |
Muscular Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
280
|
67
|
0.150 |
None |
1.000 |
5 |
|
2002 |
2017 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.140 |
None |
1.000 |
4 |
2
|
2011 |
2018 |
Muscle hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
967
|
579
|
0.100 |
None |
1.000 |
13 |
1
|
2001 |
2016 |
Vital capacity
|
phenotype |
|
Clinical Attribute
|
430
|
746
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Congenital muscular dystrophy (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
54
|
20
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Phrynoderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
19
|
3
|
0.100 |
None |
|
0 |
|
|
|
Clumsiness - motor delay
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
393
|
2
|
0.100 |
None |
|
0 |
|
|
|
Creatine phosphokinase serum increased
|
phenotype |
|
Finding
|
228
|
43
|
0.100 |
None |
|
0 |
|
|
|
Spinal rigidity
|
phenotype |
|
Finding
|
55
|
3
|
0.100 |
None |
|
0 |
|
|
|
Flexion contracture of proximal interphalangeal joint
|
phenotype |
|
Finding
|
168
|
7
|
0.100 |
None |
|
0 |
|
|
|
Slender finger
|
phenotype |
|
Finding
|
20
|
5
|
0.100 |
None |
|
0 |
|
|
|