ALPORT SYNDROME 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
2
|
450
|
0.900 |
strong |
1.000 |
64 |
450
|
1991 |
2017 |
Alport Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
51
|
314
|
0.700 |
definitive |
0.977 |
130 |
310
|
1990 |
2020 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.600 |
strong |
0.960 |
75 |
3
|
1992 |
2020 |
Hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
235
|
31
|
0.480 |
strong |
1.000 |
9 |
3
|
2001 |
2019 |
Renal glomerular disease
|
group |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
221
|
7
|
0.440 |
strong |
1.000 |
4 |
1
|
2011 |
2018 |
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.410 |
strong |
1.000 |
2 |
1
|
1995 |
1997 |
Proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
239
|
20
|
0.400 |
strong |
1.000 |
1 |
4
|
2017 |
2017 |
Hematuria, Benign Familial
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
11
|
22
|
0.340 |
strong |
1.000 |
5 |
1
|
2003 |
2014 |
Leiomyomatosis, esophageal and vulval, with nephropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
|
0.320 |
None |
1.000 |
3 |
|
1992 |
2013 |
Focal glomerulosclerosis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
281
|
50
|
0.310 |
strong |
1.000 |
2 |
|
2017 |
2019 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.310 |
strong |
1.000 |
2 |
|
2003 |
2005 |
Leiomyoma, Epithelioid
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |
Alport Syndrome, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Focal Segmental Glomerulosclerosis, Not Otherwise Specified
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
42
|
6
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.300 |
strong |
|
0 |
|
|
|
Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
Diffuse leiomyomatosis
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.170 |
None |
1.000 |
7 |
|
1993 |
2017 |
Nephritis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
296
|
40
|
0.150 |
None |
1.000 |
5 |
2
|
1990 |
1997 |
Familial hematuria
|
disease |
|
Disease or Syndrome
|
23
|
7
|
0.130 |
None |
1.000 |
3 |
2
|
2005 |
2017 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.130 |
None |
1.000 |
3 |
2
|
1992 |
2017 |
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 |
2
|
2014 |
2018 |
Nephrotic Syndrome
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
384
|
45
|
0.110 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Anterior lenticonus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
3
|
|
0.110 |
None |
1.000 |
1 |
|
2003 |
2003 |
Lenticonus
|
disease |
|
Congenital Abnormality
|
6
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Chronic Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1074
|
306
|
0.110 |
None |
1.000 |
1 |
1
|
2007 |
2007 |