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
|
0.060 |
None |
1.000 |
6 |
|
1998 |
2017 |
Usher syndrome, type 1A
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
2
|
0.040 |
None |
1.000 |
4 |
|
1998 |
2011 |
Congenital deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
72
|
11
|
0.040 |
None |
1.000 |
4 |
|
2004 |
2017 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.140 |
None |
1.000 |
4 |
|
2004 |
2018 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.020 |
None |
1.000 |
2 |
|
2005 |
2019 |
Visual symptoms
|
phenotype |
|
Sign or Symptom
|
17
|
5
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2017 |
Chromosome 17q21.31 Deletion Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
17
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Myofibrillar Myopathy
|
disease |
Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
61
|
24
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
RETINITIS PIGMENTOSA 2 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
9
|
6
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Progressive sensorineural hearing impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
78
|
28
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Varicosity
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
188
|
51
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
LATE-ONSET RETINAL DEGENERATION (disorder)
|
disease |
Eye Diseases
|
Disease or Syndrome
|
17
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Virus Diseases
|
group |
Infections
|
Disease or Syndrome
|
1471
|
42
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Low Vision
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
157
|
51
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.310 |
None |
1.000 |
1 |
|
2019 |
2019 |
Primary malignant neoplasm
|
group |
Neoplasms
|
Neoplastic Process
|
8221
|
1374
|
0.010 |
None |
< 0.001 |
1 |
|
2015 |
2015 |
Severe visual impairment
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
35
|
9
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
6776
|
2793
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Cone dysfunction syndrome
|
disease |
|
Disease or Syndrome
|
25
|
2
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Usher Syndrome, Type III
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
13
|
24
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Blindness, Legal
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.310 |
limited |
1.000 |
1 |
|
2009 |
2009 |