Prion Diseases
group
Infections; Nervous System Diseases
Disease or Syndrome
175
67
0.100
None
1.000
18
1989
2013
Breast Carcinoma
disease
Neoplasms; Skin and Connective Tissue Diseases
Neoplastic Process
6776
2793
0.100
None
1.000
14
2007
2019
Creutzfeldt-Jakob disease
disease
Infections; Nervous System Diseases; Mental Disorders
Disease or Syndrome
137
52
0.100
None
0.909
11
1994
2019
Cystic Fibrosis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
Disease or Syndrome
852
704
0.100
None
1.000
10
2001
2019
Adrenoleukodystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
Disease or Syndrome
294
116
0.100
None
1.000
10
1995
2019
RDW - Red blood cell distribution width result
phenotype
Laboratory or Test Result
593
988
0.100
None
1.000
1
1
2019
2019
Red cell distribution width determination
phenotype
Laboratory Procedure
593
988
0.100
None
1.000
1
1
2019
2019
Reticulocyte count (procedure)
phenotype
Laboratory Procedure
234
474
0.100
None
1.000
1
1
2016
2016
Blood group antigen abnormality
phenotype
Anatomical Abnormality
8
6
0.100
None
0
2
×
CUI:
C0037763
Disease:
Spasm
Spasm
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
172
9
0.100
None
0
Freckles
phenotype
Skin and Connective Tissue Diseases
Finding
45
10
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
Spotty hypopigmentation
phenotype
Finding
6
1
0.100
None
0
Short stature
phenotype
Finding
1127
292
0.100
None
0
Photosensitivity of skin
phenotype
Skin and Connective Tissue Diseases
Pathologic Function
91
3
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
Episodic hemolytic anemia
phenotype
Hemic and Lymphatic Diseases
Finding
4
2
0.100
None
0
Short Stature, CTCAE
phenotype
Finding
1010
0.100
None
0
Hypermelanotic macule
phenotype
Finding
59
2
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
Hyperkalemia
phenotype
Nutritional and Metabolic Diseases
Finding
32
1
0.100
None
0
stomatocytic anemia
disease
Hemic and Lymphatic Diseases
Disease or Syndrome
15
1
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
MCV - raised
phenotype
Finding
12
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