Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
Tremor of hands
|
phenotype |
|
Sign or Symptom
|
31
|
7
|
0.100 |
None |
|
0 |
|
|
|
MCV - raised
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
periodic paralysis (finding)
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
18
|
11
|
0.100 |
None |
|
0 |
|
|
|
Reticulocytosis
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Blood group antigen abnormality
|
phenotype |
|
Anatomical Abnormality
|
8
|
6
|
0.100 |
None |
|
0 |
2
|
|
|
Freckles
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
45
|
10
|
0.100 |
None |
|
0 |
|
|
|
Spotty hypopigmentation
|
phenotype |
|
Finding
|
6
|
1
|
0.100 |
None |
|
0 |
|
|
|
hearing impairment
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
740
|
337
|
0.100 |
None |
|
0 |
|
|
|
CUI: |
C0037763 |
Disease: |
Spasm
|
Spasm
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
172
|
9
|
0.100 |
None |
|
0 |
|
|
|
Familial Periodic Paralysis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
|
Disease or Syndrome
|
18
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hyperkalemia
|
phenotype |
Nutritional and Metabolic Diseases
|
Finding
|
32
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypermelanotic macule
|
phenotype |
|
Finding
|
59
|
2
|
0.100 |
None |
|
0 |
|
|
|
Episodic hemolytic anemia
|
phenotype |
Hemic and Lymphatic Diseases
|
Finding
|
4
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
stomatocytic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Generalized Muscle Weakness, CTCAE
|
phenotype |
|
Finding
|
117
|
|
0.100 |
None |
|
0 |
|
|
|
Stomatocytosis Result
|
phenotype |
|
Laboratory or Test Result
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Photosensitivity of skin
|
phenotype |
Skin and Connective Tissue Diseases
|
Pathologic Function
|
91
|
3
|
0.100 |
None |
|
0 |
|
|
|
Generalized muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Sign or Symptom
|
126
|
4
|
0.100 |
None |
|
0 |
|
|
|
Sporadic CJD
|
disease |
Infections; Nervous System Diseases; Mental Disorders; Animal Diseases
|
Disease or Syndrome
|
30
|
17
|
0.010 |
None |
< 0.001 |
1 |
|
2014 |
2014 |
Triple-Negative Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
1598
|
96
|
0.010 |
None |
< 0.001 |
1 |
|
2018 |
2018 |
Eczema
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
863
|
368
|
0.010 |
None |
< 0.001 |
1 |
|
1987 |
1987 |