Waardenburg Syndrome, Type 4b
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
1
|
9
|
0.900 |
moderate |
1.000 |
13 |
9
|
1994 |
2017 |
Hirschsprung Disease
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
384
|
162
|
0.700 |
None |
1.000 |
22 |
2
|
1964 |
2011 |
Congenital central hypoventilation
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
29
|
15
|
0.600 |
None |
1.000 |
2 |
|
1996 |
1998 |
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
|
disease |
|
Finding
|
1
|
3
|
0.600 |
strong |
1.000 |
2 |
3
|
1998 |
2009 |
WAARDENBURG SYNDROME, TYPE 4A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
12
|
11
|
0.560 |
None |
1.000 |
8 |
|
1996 |
2011 |
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
21
|
8
|
0.540 |
strong |
1.000 |
6 |
|
1996 |
2020 |
Aganglionosis, Colonic
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
36
|
11
|
0.520 |
strong |
1.000 |
7 |
|
1996 |
2009 |
Aganglionosis, Rectosigmoid Colon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
15
|
|
0.300 |
None |
1.000 |
4 |
|
1996 |
1998 |
Congenital Intestinal Aganglionosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
18
|
16
|
0.300 |
None |
1.000 |
4 |
|
1996 |
1998 |
Hypotension
|
phenotype |
Cardiovascular Diseases
|
Finding
|
125
|
2
|
0.300 |
None |
1.000 |
2 |
|
1992 |
1994 |
Bradycardia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Finding
|
63
|
2
|
0.300 |
None |
1.000 |
1 |
|
1992 |
1992 |
Hypertensive disease
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
2322
|
1085
|
0.300 |
None |
1.000 |
1 |
|
1991 |
1991 |
CCHS WITH HIRSCHSPRUNG DISEASE
|
disease |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
7
|
1
|
0.300 |
None |
1.000 |
1 |
|
1996 |
1996 |
Lung diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
700
|
50
|
0.300 |
limited |
|
0 |
|
|
|
Serum total cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
486
|
1243
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Triglycerides measurement
|
phenotype |
|
Laboratory Procedure
|
563
|
1418
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Low density lipoprotein cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
483
|
1142
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Posteriorly rotated ear
|
disease |
|
Congenital Abnormality
|
176
|
23
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.100 |
None |
|
0 |
|
|
|
Hypoxemia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
52
|
7
|
0.100 |
None |
|
0 |
|
|
|
Synophrys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
111
|
23
|
0.100 |
None |
|
0 |
|
|
|
White forelock
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
1
|
|
|