Senter syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
30
|
1.000 |
None |
1.000 |
54 |
26
|
1991 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
98
|
0.900 |
None |
1.000 |
260 |
95
|
1997 |
2019 |
Mutilating keratoderma
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
9
|
24
|
0.800 |
None |
1.000 |
25 |
23
|
1997 |
2019 |
Palmoplantar Keratoderma with Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
27
|
0.730 |
None |
1.000 |
20 |
26
|
1997 |
2019 |
Knuckle pads, leuconychia and sensorineural deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
1
|
21
|
0.720 |
None |
1.000 |
15 |
21
|
1997 |
2019 |
ICHTHYOSIS, HYSTRIX-LIKE, WITH DEAFNESS
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
20
|
0.710 |
None |
1.000 |
12 |
20
|
1997 |
2019 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.700 |
None |
0.973 |
150 |
16
|
1994 |
2020 |
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
49
|
0.700 |
None |
1.000 |
92 |
49
|
1997 |
2019 |
Keratitis-Ichthyosis-Deafness Syndrome
|
disease |
Eye Diseases
|
Disease or Syndrome
|
5
|
12
|
0.600 |
None |
1.000 |
53 |
7
|
1990 |
2019 |
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.600 |
None |
|
0 |
1
|
|
|
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.600 |
None |
|
0 |
1
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.500 |
strong |
0.968 |
158 |
49
|
1998 |
2019 |
Keratitis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
156
|
10
|
0.500 |
None |
1.000 |
23 |
4
|
1988 |
2019 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.500 |
None |
1.000 |
18 |
10
|
1994 |
2017 |
Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
62
|
37
|
0.450 |
None |
1.000 |
6 |
1
|
2002 |
2008 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.430 |
None |
1.000 |
4 |
1
|
1991 |
2014 |
Psoriasis
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
1308
|
705
|
0.430 |
None |
1.000 |
4 |
2
|
2010 |
2015 |
Prelingual Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
22
|
2
|
0.400 |
None |
1.000 |
30 |
1
|
1997 |
2012 |
DEAFNESS, AUTOSOMAL RECESSIVE (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
38
|
4
|
0.400 |
definitive |
1.000 |
25 |
1
|
1997 |
2019 |
Progressive hearing loss stapes fixation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
35
|
0.400 |
None |
|
0 |
17
|
|
|
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.340 |
None |
1.000 |
4 |
3
|
2006 |
2013 |
Porokeratotic eccrine ostial and dermal duct nevus
|
disease |
|
Neoplastic Process
|
1
|
2
|
0.330 |
None |
1.000 |
5 |
2
|
2012 |
2017 |
Hidrotic Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
7
|
0.330 |
None |
1.000 |
4 |
1
|
2004 |
2015 |
Meleda Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome; Congenital Abnormality
|
18
|
15
|
0.310 |
None |
1.000 |
2 |
|
2006 |
2014 |
Deafness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.310 |
None |
1.000 |
2 |
|
2006 |
2017 |