Abnormal breathing
phenotype
Respiratory Tract Diseases
Finding
5
2
0.100
None
0
1
Abnormal chorioretinal morphology
disease
Anatomical Abnormality
36
1
0.100
None
0
Abnormal retinal morphology
phenotype
Eye Diseases
Finding
13
8
0.100
None
0
Abnormality of cardiovascular system morphology
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
198
13
0.100
None
0
Abnormality of the hypothalamus-pituitary axis
disease
Anatomical Abnormality
70
0.100
None
0
Absent speech
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Finding
232
72
0.100
None
0
Accessory spleen
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Congenital Abnormality
41
0.100
None
0
Acute Coronary Syndrome
disease
Cardiovascular Diseases
Disease or Syndrome
440
139
0.100
None
1.000
1
1
2017
2017
Aggressive behavior
phenotype
Behavior and Behavior Mechanisms
Individual Behavior
176
22
0.100
None
0
Anencephaly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
59
10
0.100
None
0
Anophthalmos
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
89
6
0.100
None
0
Anteverted nostril
phenotype
Finding
407
35
0.100
None
0
Aplasia/Hypoplasia of the corpus callosum
phenotype
Finding
108
8
0.100
None
0
Aplasia/Hypoplasia of the iris
disease
Anatomical Abnormality
52
0.100
None
0
Aplasia/Hypoplasia of the tongue
phenotype
Finding
19
0.100
None
0
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Arima syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases
Disease or Syndrome
11
0.500
None
1.000
1
2012
2012
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Autistic behavior
disease
Behavior and Behavior Mechanisms
Mental or Behavioral Dysfunction
261
78
0.100
None
0
Bifid uvula
disease
Congenital Abnormality
97
7
0.100
None
0
Biparietal narrowing
phenotype
Finding
60
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Blindness
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Disease or Syndrome
393
34
0.100
None
0
Bowing of the long bones
phenotype
Congenital Abnormality
63
5
0.100
None
0
Bulbous nose
phenotype
Finding
123
13
0.100
None
0