Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
Retinal toxicity
|
disease |
|
Anatomical Abnormality
|
12
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abnormal cochlea morphology
|
disease |
|
Anatomical Abnormality
|
16
|
1
|
0.100 |
None |
|
0 |
|
|
|
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
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
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
USHER SYNDROME, TYPE IC
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
36
|
0.680 |
None |
1.000 |
27 |
36
|
1995 |
2018 |
Deafness, Autosomal Recessive 18
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
38
|
0.800 |
None |
1.000 |
23 |
38
|
1998 |
2017 |
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
|
0.500 |
definitive |
0.947 |
19 |
7
|
1996 |
2017 |
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 |
3
|
1998 |
2017 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.500 |
definitive |
1.000 |
7 |
|
2000 |
2014 |
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
|
0.360 |
strong |
1.000 |
7 |
|
2003 |
2017 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.340 |
limited |
1.000 |
7 |
|
2000 |
2009 |
Usher syndrome, type 1C
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
|
0.340 |
None |
1.000 |
5 |
|
2000 |
2018 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.430 |
strong |
1.000 |
4 |
1
|
1998 |
2019 |
USHER SYNDROME, TYPE IB (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
14
|
11
|
0.300 |
definitive |
1.000 |
4 |
|
2000 |
2010 |
USHER SYNDROME, TYPE IA, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
definitive |
1.000 |
4 |
|
2000 |
2010 |
USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY
|
disease |
|
Disease or Syndrome
|
5
|
|
0.300 |
definitive |
1.000 |
4 |
|
2000 |
2010 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.120 |
None |
1.000 |
2 |
|
1999 |
2012 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.110 |
None |
1.000 |
2 |
2
|
2011 |
2019 |
Autoimmune enteropathy
|
disease |
Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2011 |
Intestinal Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
209
|
13
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
16
|
18
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |