Abnormal form of the vertebral bodies
phenotype
Finding
89
0.100
None
0
Abnormal vertebral morphology
phenotype
Finding
28
0.100
None
0
Abnormal vision
phenotype
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
Finding
115
6
0.100
None
0
Abnormality of the hypothalamus-pituitary axis
disease
Anatomical Abnormality
70
0.100
None
0
Agenesis of corpus callosum
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
615
45
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
×
CUI:
C0003578
Disease:
Apnea
Apnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Sign or Symptom
262
11
0.100
None
0
Ataxia
phenotype
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
Sign or Symptom
868
68
0.100
None
0
Autism Spectrum Disorders
disease
Mental Disorders
Mental or Behavioral Dysfunction
1071
331
0.320
None
1.000
2
2011
2019
Autistic Disorder
disease
Mental Disorders
Mental or Behavioral Dysfunction
1112
395
0.010
None
1.000
1
2012
2012
Biparietal narrowing
phenotype
Finding
60
0.100
None
0
Blepharoptosis
disease
Eye Diseases
Disease or Syndrome
595
57
0.100
None
0
Cerebellar vermis hypoplasia
phenotype
Finding
100
26
0.100
None
0
Ciliopathies
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
241
7
0.300
None
0
Cleft Palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
611
158
0.100
None
0
Coloboma of iris
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Anatomical Abnormality
153
12
0.100
None
0
Coloboma of the Retina
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Disease or Syndrome
58
3
0.100
None
0
Congenital cerebral hernia
disease
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
Congenital Abnormality
93
6
0.100
None
0
Congenital coloboma of iris
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
Congenital Abnormality
148
1
0.100
None
0
Dextrocardia
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
30
6
0.100
None
0
Disorder of eye
group
Eye Diseases
Disease or Syndrome
400
14
0.300
limited
0
Episodic tachypnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Finding
31
1
0.100
None
0
Ewings sarcoma
disease
Neoplasms
Neoplastic Process
517
25
0.010
None
1.000
1
2013
2013
Familial aplasia of the vermis
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
Disease or Syndrome
95
187
0.520
limited
1.000
2
2012
2019