Xeroderma Pigmentosum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
137
|
35
|
0.020 |
None |
0.500 |
2 |
|
2005 |
2017 |
Weight less than 3rd percentile
|
phenotype |
|
Finding
|
22
|
27
|
0.100 |
None |
|
0 |
1
|
|
|
Vesicular Stomatitis
|
disease |
Infections; Stomatognathic Diseases; Animal Diseases
|
Disease or Syndrome
|
112
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
UV-SENSITIVE SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
None |
1.000 |
1 |
2
|
2009 |
2009 |
UV-Sensitive Syndrome
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
15
|
|
0.620 |
strong |
1.000 |
3 |
|
2009 |
2017 |
Tremor
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
528
|
52
|
0.100 |
None |
|
0 |
|
|
|
Thymic hormone decreased
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Thickened calvaria
|
phenotype |
|
Finding
|
27
|
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
1
|
|
|
Sunken eyes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Finding
|
171
|
54
|
0.100 |
None |
|
0 |
3
|
|
|
Strabismus
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
716
|
89
|
0.100 |
None |
|
0 |
|
|
|
Stomach Diseases
|
group |
Digestive System Diseases
|
Disease or Syndrome
|
70
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Stomach Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3720
|
652
|
0.040 |
None |
1.000 |
4 |
1
|
2015 |
2018 |
Square pelvis bone
|
disease |
|
Anatomical Abnormality
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Splenomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
345
|
19
|
0.100 |
None |
|
0 |
|
|
|
Sparse hair
|
phenotype |
|
Finding
|
112
|
9
|
0.100 |
None |
|
0 |
|
|
|
Slender nose
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Sleep-Disordered Breathing
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
65
|
|
0.040 |
None |
1.000 |
4 |
|
2017 |
2019 |
Sleep Apnea, Obstructive
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
480
|
105
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Sleep Apnea, Central
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
122
|
17
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2019 |
Sleep Apnea Syndromes
|
disease |
Respiratory Tract Diseases; Nervous System Diseases
|
Disease or Syndrome
|
148
|
18
|
0.010 |
None |
< 0.001 |
1 |
|
2017 |
2017 |
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
1
|
|
|
Severe postnatal growth retardation
|
phenotype |
|
Finding
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Severe Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
70
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Sensorineural Hearing Loss (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
783
|
111
|
0.100 |
None |
|
0 |
|
|
|