Abnormality of the immune system
|
disease |
|
Pathologic Function
|
34
|
3
|
0.100 |
None |
|
0 |
|
|
|
Absence of pain sensation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Mental Disorders
|
Finding
|
14
|
3
|
0.400 |
None |
1.000 |
1 |
|
2012 |
2012 |
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
2
|
|
|
Acidosis, Lactic
|
phenotype |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
209
|
21
|
0.100 |
None |
|
0 |
|
|
|
Acral ulceration
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Acute flaccid paralysis
|
phenotype |
|
Sign or Symptom
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Alpers Syndrome (disorder)
|
disease |
Immune System Diseases; Nervous System Diseases
|
Disease or Syndrome
|
28
|
128
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
ALPORT SYNDROME 2, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
4
|
143
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
Alport syndrome, recessive type
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
|
0.200 |
None |
1.000 |
6 |
|
1990 |
2009 |
Amyloidosis
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
694
|
93
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Anisocoria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
7
|
5
|
0.100 |
None |
|
0 |
2
|
|
|
Arteriolar hyalinosis
|
disease |
|
Acquired Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arteriolosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
13
|
2
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Arthritis, Gouty
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
206
|
2356
|
0.100 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.100 |
None |
|
0 |
|
|
|
Axonal neuropathy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
59
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
|
0 |
2
|
|
|
Broad-based gait
|
phenotype |
|
Finding
|
75
|
24
|
0.100 |
None |
|
0 |
2
|
|
|
Cholestasis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
420
|
15
|
0.310 |
strong |
1.000 |
2 |
|
2008 |
2014 |
Cirrhosis
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
919
|
110
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Cochlear Diseases
|
group |
Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
COENZYME Q10 DEFICIENCY
|
disease |
Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
21
|
3
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Decreased distal sensory nerve action potential
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|