DEAFNESS, AUTOSOMAL RECESSIVE 29
|
disease |
|
Disease or Syndrome
|
1
|
8
|
0.900 |
strong |
1.000 |
6 |
8
|
2001 |
2017 |
Kidney Calculi
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
190
|
71
|
0.500 |
None |
1.000 |
11 |
4
|
2009 |
2018 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.400 |
strong |
1.000 |
1 |
1
|
2012 |
2012 |
Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
62
|
37
|
0.400 |
None |
1.000 |
1 |
1
|
2001 |
2001 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.300 |
definitive |
1.000 |
9 |
|
2001 |
2018 |
Prelingual Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
22
|
2
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Bilateral Deafness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Deafness, Acquired
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Complete Hearing Loss
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Finding
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Hearing Loss, Extreme
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Sign or Symptom
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
Deaf Mutism
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
20
|
|
0.300 |
None |
1.000 |
1 |
|
2001 |
2001 |
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 |
1 |
|
2003 |
2003 |
Acidosis
|
phenotype |
Nutritional and Metabolic Diseases
|
Pathologic Function
|
28
|
|
0.200 |
None |
1.000 |
1 |
|
2007 |
2007 |
Urolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
72
|
33
|
0.110 |
None |
1.000 |
2 |
1
|
2017 |
2019 |
Nephrolithiasis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
242
|
99
|
0.100 |
None |
1.000 |
10 |
2
|
2009 |
2018 |
Glomerular Filtration Rate
|
phenotype |
|
Diagnostic Procedure
|
399
|
1033
|
0.100 |
None |
1.000 |
2 |
1
|
2018 |
2019 |
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
2 |
2
|
2014 |
2018 |
Hemoglobin measurement
|
phenotype |
|
Laboratory Procedure
|
131
|
224
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hematocrit procedure
|
phenotype |
|
Laboratory Procedure
|
138
|
216
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Red Blood Cell Count measurement
|
phenotype |
|
Laboratory Procedure
|
717
|
1599
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Blood urea nitrogen measurement
|
phenotype |
|
Laboratory Procedure
|
90
|
174
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Parathyroid hormone measurement
|
phenotype |
|
Laboratory Procedure
|
10
|
15
|
0.100 |
None |
1.000 |
1 |
1
|
2017 |
2017 |
Bone Mineral Density Test
|
phenotype |
|
Diagnostic Procedure
|
54
|
314
|
0.100 |
None |
1.000 |
1 |
1
|
2014 |
2014 |
Nonprogressive
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|