Distal muscle weakness
phenotype
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
Finding
117
16
0.100
None
0
1
Intervertebral disc disorder
group
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
Disease or Syndrome
188
19
0.010
None
1.000
1
2018
2018
Henoch-Schoenlein Purpura
disease
Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
Disease or Syndrome
198
59
0.010
None
1.000
1
2018
2018
Overactive Bladder
disease
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
65
3
0.010
None
1.000
1
2018
2018
Progressive supranuclear palsy
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
176
52
0.060
None
1.000
6
2017
2019
Deuteranomaly
disease
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
92
10
0.010
None
1.000
1
2018
2018
Mental Retardation
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
505
98
0.010
None
1.000
1
2001
2001
CADASIL Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
Disease or Syndrome
40
23
0.010
None
1.000
1
2019
2019
Complete Trisomy 21 Syndrome
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Disease or Syndrome
669
77
0.040
None
0.750
4
2009
2019
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
0.020
None
1.000
2
2001
2016
Hypoplasia of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
385
49
0.010
None
1.000
1
2016
2016
×
CUI:
C0030193
Disease:
Pain
Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
1554
196
0.010
None
1.000
1
2020
2020
Wallerian Degeneration
phenotype
Pathological Conditions, Signs and Symptoms
Cell or Molecular Dysfunction
21
0.200
None
1.000
1
2000
2000
Bodily Pain
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
22
4
0.010
None
1.000
1
2020
2020
Frontotemporal dementia
disease
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
Disease or Syndrome
320
215
0.100
None
1.000
14
2016
2019
Behavioral variant of frontotemporal dementia
disease
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
Disease or Syndrome
35
10
0.040
None
1.000
4
2017
2019
Frontotemporal Lobar Degeneration
disease
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
Mental or Behavioral Dysfunction
195
54
0.030
None
1.000
3
2017
2020
GRN-related frontotemporal dementia
disease
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
Disease or Syndrome
112
20
0.020
None
1.000
2
2017
2020
Semantic Dementia
disease
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
Mental or Behavioral Dysfunction
20
4
0.010
None
1.000
1
2019
2019
Amyotrophic Lateral Sclerosis
disease
Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
1114
485
0.100
None
0.968
31
1990
2020
AMYOTROPHIC LATERAL SCLEROSIS 1
disease
Nutritional and Metabolic Diseases; Nervous System Diseases
Disease or Syndrome
164
139
0.010
None
1.000
1
2013
2013
Mitochondrial encephalopathy
disease
Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Disease or Syndrome
32
8
0.010
None
1.000
1
2019
2019
Diabetes Mellitus, Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
Disease or Syndrome
1675
954
0.010
None
1.000
1
2018
2018
Diabetes Mellitus
group
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
2803
824
0.020
None
1.000
2
2018
2019
Diabetes Mellitus, Non-Insulin-Dependent
disease
Nutritional and Metabolic Diseases; Endocrine System Diseases
Disease or Syndrome
3134
2672
0.010
None
1.000
1
2018
2018