Alport Syndrome, Mental Retardation, Midface Hypoplasia, and Elliptocytosis
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
|
0 |
|
|
|
Ventricular tachycardia, polymorphic
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
11
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Elliptocytosis found
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Microscopic hematuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
15
|
4
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal familial ventricular fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
18
|
5
|
0.310 |
limited |
1.000 |
1 |
|
2011 |
2011 |
Elliptocytosis, Hereditary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Trifascicular block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
ST segment elevation (finding)
|
phenotype |
Cardiovascular Diseases
|
Finding
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Paroxysmal ventricular tachycardia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
24
|
2
|
0.100 |
None |
|
0 |
|
|
|
First degree atrioventricular block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
AV Block First Degree by ECG Finding
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Tooth, Supernumerary
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Right bundle branch block
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Fibrillation, Paroxysmal Familial, 1
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
42
|
8
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Supraventricular tachycardia
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
50
|
7
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic valve
|
disease |
|
Anatomical Abnormality
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Sick Sinus Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
51
|
7
|
0.100 |
None |
|
0 |
|
|
|
Contiguous gene syndrome
|
disease |
|
Disease or Syndrome
|
52
|
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Premature ventricular contractions
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
56
|
13
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Brugada Syndrome (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Disease or Syndrome
|
66
|
201
|
0.620 |
disputed |
1.000 |
5 |
|
1999 |
2019 |
Glomerulopathy Assessment
|
phenotype |
|
Diagnostic Procedure
|
84
|
|
0.100 |
None |
|
0 |
|
|
|
Tapering fingers (finding)
|
phenotype |
|
Finding
|
91
|
19
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Fibrillation
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
96
|
19
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|