Abnormal auditory evoked potential
phenotype
Finding
11
2
0.100
None
0
Abnormal pigmentation
phenotype
Finding
58
5
0.100
None
0
Abnormal vision
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
115
6
0.100
None
0
1
Abnormal visual evoked potential
phenotype
Nervous System Diseases
Finding
55
5
0.100
None
0
Abnormality of calvarial morphology
phenotype
Anatomical Abnormality
8
1
0.100
None
0
1
Abnormality of midbrain morphology
phenotype
Anatomical Abnormality
2
1
0.100
None
0
1
Abnormality of the outer ear
disease
Anatomical Abnormality
95
8
0.100
None
0
1
Abnormality of the periventricular white matter
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Anatomical Abnormality
45
7
0.100
None
0
1
Abnormality of the pinna
phenotype
Finding
85
9
0.100
None
0
×
CUI:
C1609524
Disease:
ADHF
ADHF
disease
Disease or Syndrome
46
0.010
None
1.000
1
2018
2018
Adrenoleukodystrophy
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
Disease or Syndrome
294
116
0.010
None
1.000
1
2001
2001
Angina Pectoris, Variant
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
26
4
0.010
None
1.000
1
2018
2018
Anhidrosis
disease
Skin and Connective Tissue Diseases
Disease or Syndrome
37
2
0.100
None
0
Anisocoria
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
7
5
0.100
None
0
1
Aplasia/Hypoplasia of the cerebellum
phenotype
Finding
116
5
0.100
None
0
1
Aplasia/Hypoplasia of the corpus callosum
phenotype
Finding
108
8
0.100
None
0
1
Apnea+hypopnea
disease
Disease or Syndrome
17
3
0.010
None
1.000
1
2017
2017
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Atrophic Vaginitis
disease
Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
5
0.010
None
1.000
1
2017
2017
Atypical scarring of skin
phenotype
Pathological Conditions, Signs and Symptoms
Pathologic Function
101
1
0.100
None
0
Bacteremia
disease
Pathological Conditions, Signs and Symptoms; Infections
Disease or Syndrome
233
7
0.010
None
1.000
1
2014
2014
Bacteroides fragilis infection in conditions classified elsewhere and of unspecified site
disease
Disease or Syndrome
43
0.010
None
1.000
1
2017
2017
Basal ganglia calcification
phenotype
Pathologic Function
22
3
0.100
None
0
Cachexia
phenotype
Pathological Conditions, Signs and Symptoms
Sign or Symptom
273
11
0.010
None
1.000
1
2013
2013
Candidiasis
disease
Infections
Disease or Syndrome
95
8
0.010
None
1.000
1
2018
2018