Familial thoracic aortic aneurysm and aortic dissection
|
disease |
|
Disease or Syndrome
|
59
|
442
|
0.300 |
limited |
|
0 |
|
|
|
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 |
ALPORT SYNDROME 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
2
|
450
|
0.900 |
strong |
1.000 |
64 |
450
|
1991 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
|
|
|
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 |
X-linked hydrocephalus syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
20
|
24
|
0.100 |
None |
1.000 |
17 |
2
|
1998 |
2020 |
Hereditary nephritis
|
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
|
9
|
1
|
0.100 |
None |
1.000 |
16 |
1
|
1996 |
2015 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.100 |
None |
0.933 |
15 |
1
|
1992 |
2019 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.100 |
None |
1.000 |
15 |
|
2013 |
2019 |
Andersen Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
38
|
0.100 |
None |
0.900 |
10 |
1
|
2005 |
2019 |
Diffuse leiomyomatosis
|
disease |
Neoplasms
|
Neoplastic Process
|
2
|
|
0.170 |
None |
1.000 |
7 |
|
1993 |
2017 |
Malignant neoplasm of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4173
|
1142
|
0.070 |
None |
1.000 |
7 |
|
2013 |
2018 |
Carcinoma of lung
|
disease |
Neoplasms; Respiratory Tract Diseases
|
Neoplastic Process
|
4081
|
1204
|
0.060 |
None |
1.000 |
6 |
|
2013 |
2018 |
Thin basement membrane disease
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
12
|
9
|
0.060 |
None |
1.000 |
6 |
1
|
2011 |
2016 |
ARTERIAL TORTUOSITY SYNDROME
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
37
|
23
|
0.060 |
None |
1.000 |
6 |
1
|
2006 |
2016 |
Adenocarcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2235
|
168
|
0.060 |
None |
1.000 |
6 |
|
2004 |
2017 |