Abnormal chorioretinal morphology
disease
Anatomical Abnormality
36
1
0.100
None
0
Abnormal corpus callosum morphology
phenotype
Pathological Conditions, Signs and Symptoms
Finding
70
10
0.100
None
0
Abnormal oral frenulum morphology
disease
Anatomical Abnormality
19
1
0.100
None
0
Abnormal renal function
phenotype
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Pathologic Function
12
6
0.100
None
0
Abnormal saccadic eye movement
disease
Anatomical Abnormality
17
1
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 ocular smooth pursuit
phenotype
Finding
5
0.100
None
0
Abnormality of the hypothalamus-pituitary axis
disease
Anatomical Abnormality
70
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
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
0.300
None
1.000
2
2010
2010
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
Bilateral Cryptorchidism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
48
9
0.100
None
0
Bile duct proliferation
disease
Digestive System Diseases
Disease or Syndrome
30
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