Truncal obesity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
|
Finding
|
38
|
4
|
0.100 |
None |
|
0 |
|
|
|
Reduced insulin like growth factor binding protein acid labile subunit level
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased serum insulin-like growth factor 1
|
phenotype |
|
Finding
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Delayed bone age
|
phenotype |
|
Finding
|
295
|
14
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|
Insulin insensitivity
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Mild postnatal growth retardation
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Parkinsonian Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
373
|
95
|
0.090 |
None |
1.000 |
9 |
|
1980 |
2016 |
Amyotrophic Lateral Sclerosis, Sporadic
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
173
|
90
|
0.090 |
None |
1.000 |
9 |
1
|
1997 |
2018 |
Spinal Muscular Atrophy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
320
|
33
|
0.080 |
None |
1.000 |
8 |
1
|
2001 |
2020 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.070 |
None |
1.000 |
7 |
1
|
2003 |
2020 |
TDP-43 Proteinopathies
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
44
|
1
|
0.070 |
None |
1.000 |
7 |
|
2011 |
2019 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.060 |
None |
1.000 |
6 |
|
1991 |
2018 |
Papillon-Lefevre Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
29
|
19
|
0.050 |
None |
1.000 |
5 |
|
2005 |
2019 |
Lateral Sclerosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
19
|
1
|
0.040 |
None |
1.000 |
4 |
|
2005 |
2019 |
Bulbo-Spinal Atrophy, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
126
|
30
|
0.040 |
None |
1.000 |
4 |
1
|
1998 |
2019 |
Growth failure
|
phenotype |
|
Disease or Syndrome
|
84
|
7
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2015 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.040 |
None |
1.000 |
4 |
|
2008 |
2015 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.030 |
None |
1.000 |
3 |
|
2010 |
2019 |
Multiple Sclerosis
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1800
|
1022
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
GRN-related frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
112
|
20
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2019 |
Frontotemporal Dementia With Motor Neuron Disease
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
13
|
4
|
0.030 |
None |
1.000 |
3 |
|
2014 |
2019 |
Muscle Spasticity
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
580
|
48
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2019 |
Motor symptoms
|
phenotype |
|
Sign or Symptom
|
100
|
15
|
0.030 |
None |
1.000 |
3 |
1
|
2005 |
2017 |
CUI: |
C0030193 |
Disease: |
Pain
|
Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
1554
|
196
|
0.030 |
None |
1.000 |
3 |
|
1999 |
2020 |