Wolfram Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
7
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Winged scapula
|
phenotype |
|
Finding
|
73
|
3
|
0.100 |
None |
|
0 |
|
|
|
White hair
|
phenotype |
|
Finding
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
White forelock
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
White eyelashes
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
White eyebrow
|
phenotype |
|
Finding
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
WAARDENBURG SYNDROME, TYPE IIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
7
|
26
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
WAARDENBURG SYNDROME, TYPE 4A
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Disease or Syndrome
|
12
|
11
|
0.010 |
None |
1.000 |
1 |
|
1995 |
1995 |
Waardenburg Syndrome Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
9
|
2
|
0.030 |
None |
1.000 |
3 |
1
|
1998 |
2013 |
Waardenburg Syndrome Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
16
|
46
|
1.000 |
definitive |
0.987 |
75 |
43
|
1983 |
2019 |
Waardenburg Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
21
|
8
|
0.800 |
definitive |
1.000 |
59 |
2
|
1992 |
2018 |
Waardenburg Anophthalmia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
8
|
10
|
0.300 |
None |
1.000 |
3 |
|
1993 |
2003 |
Variable expressivity
|
phenotype |
|
Finding
|
319
|
|
0.100 |
None |
|
0 |
|
|
|
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Underdeveloped nasal alae
|
phenotype |
|
Congenital Abnormality
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of the wrist
|
phenotype |
|
Sign or Symptom
|
14
|
9
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of the hand or of fingers of the hand
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of the fingers
|
phenotype |
|
Finding
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Ulnar deviation of hand
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
12
|
2
|
0.100 |
None |
|
0 |
|
|
|
Tumor Progression
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Neoplastic Process
|
3865
|
72
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.060 |
None |
1.000 |
6 |
|
2011 |
2019 |
Truncus Arteriosus, Persistent
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
76
|
4
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Thick eyebrow
|
phenotype |
|
Finding
|
104
|
13
|
0.100 |
None |
|
0 |
|
|
|
Tethered Cord Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
41
|
2
|
0.300 |
None |
1.000 |
3 |
|
1988 |
2003 |