Williams Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
104
|
6
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2008 |
White forelock
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Werner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
130
|
71
|
1.000 |
definitive |
0.952 |
166 |
63
|
1993 |
2019 |
Weight less than 3rd percentile
|
phenotype |
|
Finding
|
22
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Vertical Talus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
69
|
20
|
0.100 |
None |
|
0 |
|
|
|
Vascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
688
|
40
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Tooth Attrition
|
disease |
Stomatognathic Diseases
|
Acquired Abnormality
|
66
|
5
|
0.020 |
None |
1.000 |
2 |
|
2008 |
2016 |
Thyroid Neoplasm
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1164
|
135
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Thyroid carcinoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
1175
|
145
|
0.110 |
strong |
1.000 |
1 |
|
1996 |
1996 |
Telangiectasia of the skin
|
phenotype |
Cardiovascular Diseases
|
Finding
|
56
|
3
|
0.100 |
None |
|
0 |
|
|
|
T-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
485
|
24
|
0.010 |
None |
1.000 |
1 |
1
|
2013 |
2013 |
Systemic Scleroderma
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
979
|
287
|
0.110 |
None |
1.000 |
1 |
|
2006 |
2006 |
Subcutaneous calcification
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Stickler syndrome, type 1
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
27
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Stickler syndrome (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
17
|
8
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Squamous cell carcinoma of the head and neck
|
disease |
Neoplasms
|
Neoplastic Process
|
1543
|
348
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Squamous cell carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
2507
|
257
|
0.100 |
None |
|
0 |
|
|
|
Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.100 |
None |
|
0 |
|
|
|
Spondylosis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Sparse scalp hair
|
phenotype |
|
Finding
|
85
|
7
|
0.100 |
None |
|
0 |
|
|
|
Small hand
|
phenotype |
|
Finding
|
108
|
31
|
0.100 |
None |
|
0 |
|
|
|
Slender build
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
31
|
2
|
0.100 |
None |
|
0 |
|
|
|
Skin Ulcer
|
phenotype |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
151
|
1
|
0.100 |
None |
|
0 |
|
|
|