Hidrotic Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
8
|
7
|
1.000 |
definitive |
1.000 |
33 |
4
|
1998 |
2019 |
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
98
|
0.800 |
moderate |
1.000 |
21 |
2
|
1998 |
2016 |
Deafness, Autosomal Dominant 3B
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
moderate |
1.000 |
18 |
4
|
1998 |
2016 |
Deafness, Autosomal Recessive 1b
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
16
|
0.600 |
moderate |
1.000 |
1 |
1
|
1998 |
1998 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.500 |
moderate |
0.931 |
29 |
5
|
1998 |
2019 |
DEAFNESS, DIGENIC, GJB2/GJB6 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
3
|
1
|
0.500 |
None |
1.000 |
5 |
|
2003 |
2010 |
DEAFNESS, DIGENIC, GJB2/GJB3 (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
2
|
0.500 |
None |
1.000 |
5 |
|
2003 |
2010 |
Ectodermal Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
71
|
16
|
0.410 |
None |
1.000 |
1 |
|
2002 |
2002 |
Palmoplantar Keratosis
|
disease |
Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
39
|
6
|
0.400 |
strong |
1.000 |
1 |
|
2002 |
2002 |
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 |
1
|
|
|
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
|
0.320 |
None |
1.000 |
2 |
1
|
2004 |
2015 |
Keratitis-Ichthyosis-Deafness Syndrome
|
disease |
Eye Diseases
|
Disease or Syndrome
|
5
|
12
|
0.320 |
None |
1.000 |
2 |
2
|
2004 |
2015 |
Anhydrotic Ectodermal Dysplasias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
29
|
2
|
0.310 |
None |
1.000 |
1 |
|
2008 |
2008 |
Aplasia Cutis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
393
|
14
|
0.300 |
None |
|
0 |
|
|
|
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.200 |
None |
1.000 |
25 |
4
|
1995 |
2016 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.200 |
None |
0.944 |
18 |
|
2001 |
2019 |
Sensorineural hearing loss, bilateral
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
117
|
30
|
0.200 |
None |
1.000 |
5 |
|
2003 |
2010 |
Other ureteric obstruction
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
52
|
|
0.200 |
None |
1.000 |
1 |
|
2003 |
2003 |
Diabetes Mellitus, Experimental
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Experimental Model of Disease
|
522
|
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Borna Disease
|
disease |
Infections; Animal Diseases
|
Disease or Syndrome
|
26
|
|
0.200 |
None |
1.000 |
1 |
|
2008 |
2008 |
Brain Hypoxia
|
phenotype |
Nervous System Diseases
|
Pathologic Function
|
12
|
|
0.200 |
None |
1.000 |
1 |
|
2010 |
2010 |
Status Epilepticus
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
533
|
12
|
0.200 |
None |
1.000 |
1 |
|
2002 |
2002 |
Visual seizure
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
209
|
|
0.200 |
None |
1.000 |
1 |
|
2012 |
2012 |
Transient Ischemic Attack
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
344
|
16
|
0.200 |
None |
1.000 |
1 |
|
2011 |
2011 |
Keratoderma, Palmoplantar
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
165
|
19
|
0.130 |
None |
1.000 |
3 |
2
|
2009 |
2017 |