Usher syndrome, type 2C
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
28
|
0.940 |
definitive |
1.000 |
19 |
28
|
1998 |
2018 |
FEBRILE CONVULSIONS, FAMILIAL, 4
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
4
|
0.620 |
None |
1.000 |
3 |
4
|
1998 |
2011 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.410 |
strong |
1.000 |
2 |
7
|
1998 |
2019 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.300 |
disputed |
1.000 |
11 |
|
2013 |
2018 |
Generalized Epilepsy with Febrile Seizures Plus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
13
|
13
|
0.300 |
None |
1.000 |
1 |
|
2002 |
2002 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Usher Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
68
|
74
|
0.200 |
None |
1.000 |
11 |
7
|
2004 |
2019 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2007 |
USHER SYNDROME, TYPE IIB, FORMERLY
|
disease |
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2007 |
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2007 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.160 |
None |
1.000 |
6 |
|
2000 |
2014 |
Usher syndrome type 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
16
|
0.150 |
None |
1.000 |
5 |
1
|
2005 |
2015 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.100 |
None |
1.000 |
3 |
2
|
2015 |
2019 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Chronic Obstructive Airway Disease
|
disease |
Respiratory Tract Diseases
|
Disease or Syndrome
|
1428
|
852
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Atopic IgE-mediated allergic disorder
|
disease |
Immune System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Usher Syndrome, Type I
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
23
|
168
|
0.100 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Small cell carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
972
|
125
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
RESTING HEART RATE
|
phenotype |
|
Finding
|
80
|
134
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Glycine measurement
|
phenotype |
|
Laboratory Procedure
|
32
|
68
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Cervix carcinoma
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
1881
|
283
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |