COWCHOCK SYNDROME
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.750 |
None |
1.000 |
10 |
1
|
1985 |
2019 |
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 6
|
disease |
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
8 |
3
|
1985 |
2016 |
Peripheral Nervous System Diseases
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
549
|
69
|
0.060 |
None |
0.833 |
6 |
|
2006 |
2019 |
Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
484
|
110
|
0.050 |
None |
1.000 |
5 |
|
1996 |
2019 |
Charcot-Marie-Tooth Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
208
|
136
|
0.040 |
None |
1.000 |
4 |
|
1996 |
2018 |
Peripheral Neuropathy
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
351
|
81
|
0.040 |
None |
0.750 |
4 |
|
2006 |
2019 |
Hereditary Motor and Sensory-Neuropathy Type II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
144
|
0.040 |
None |
1.000 |
4 |
|
1997 |
1999 |
MITOCHONDRIAL COMPLEX I DEFICIENCY
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
40
|
31
|
0.200 |
None |
1.000 |
4 |
|
2002 |
2008 |
Mitochondrial Diseases
|
group |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
284
|
84
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2018 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.130 |
None |
1.000 |
3 |
|
2001 |
2017 |
Colorectal Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5473
|
1962
|
0.030 |
None |
1.000 |
3 |
|
2006 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.030 |
None |
0.667 |
3 |
|
2006 |
2014 |
Huntington Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
978
|
115
|
0.320 |
None |
1.000 |
3 |
|
2003 |
2012 |
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
12
|
16
|
0.030 |
None |
1.000 |
3 |
|
2007 |
2017 |
Cerebellar Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
441
|
120
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Prostatic Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
1722
|
31
|
0.020 |
None |
1.000 |
2 |
|
2007 |
2012 |
Auditory neuropathy spectrum disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
17
|
0.020 |
None |
1.000 |
2 |
2
|
2006 |
2015 |
Liver carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
5725
|
942
|
0.020 |
None |
1.000 |
2 |
|
2012 |
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
|
0.020 |
None |
1.000 |
2 |
|
2001 |
2017 |
Myopathy
|
group |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
634
|
166
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Retinal Detachment
|
disease |
Eye Diseases
|
Disease or Syndrome
|
148
|
10
|
0.500 |
None |
1.000 |
2 |
|
2001 |
2008 |
Neurodegenerative Disorders
|
group |
Nervous System Diseases
|
Disease or Syndrome
|
1515
|
85
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2017 |
Neoplasm Metastasis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6385
|
327
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2018 |
Malignant neoplasm of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6941
|
3417
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2013 |
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2018 |