Absence of sensation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
111
|
5
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Acquired Kyphoscoliosis
|
disease |
Musculoskeletal Diseases
|
Acquired Abnormality
|
149
|
2
|
0.100 |
None |
|
0 |
|
|
|
Adenomatous Polyposis Coli
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
609
|
237
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Apathy
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
83
|
9
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ataxia, Sensory
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Atrial Premature Complexes
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
183
|
21
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Basal lamina onion bulb formation
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow toxicity
|
disease |
|
Disease or Syndrome
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Bulimia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Mental or Behavioral Dysfunction
|
76
|
30
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.100 |
None |
1.000 |
17 |
3
|
2000 |
2019 |
Charcot-Marie-Tooth disease type 4
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
14
|
77
|
0.110 |
None |
1.000 |
10 |
9
|
2001 |
2017 |
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.720 |
None |
1.000 |
5 |
8
|
2000 |
2012 |
Charcot-Marie-Tooth disease, Type 2B2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
5
|
1
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Claw hand
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
63
|
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 |
|
|
|
Colitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
1135
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital cataract
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
105
|
104
|
0.300 |
None |
1.000 |
1 |
|
2016 |
2016 |
Congenital kyphoscoliosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
151
|
2
|
0.100 |
None |
|
0 |
|
|
|
Decreased motor nerve conduction velocity
|
phenotype |
|
Finding
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of large peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Dejerine-Sottas Disease (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
176
|
45
|
0.780 |
None |
1.000 |
13 |
6
|
2000 |
2019 |
Demyelinating Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
156
|
5
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |