Abnormal oral frenulum morphology
disease
Anatomical Abnormality
19
1
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
Bilateral Cryptorchidism
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
Congenital Abnormality
48
9
0.100
None
0
Biparietal narrowing
phenotype
Finding
60
0.100
None
0
Brachydactyly
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
325
43
0.100
None
0
Broad nasal tip
phenotype
Finding
125
8
0.100
None
0
Byzanthine arch palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
Congenital Abnormality
497
70
0.100
None
0
Central Y-shaped metacarpal
phenotype
Finding
9
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
0.010
None
1.000
1
2019
2019
Cleft Palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
611
158
0.100
None
0
Clinodactyly of fingers
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
160
7
0.100
None
0
Conductive hearing loss
disease
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
Disease or Syndrome
291
5
0.100
None
0
Congenital absence of kidneys syndrome
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
110
0.100
None
0
Congenital Epicanthus
disease
Congenital Abnormality
417
30
0.100
None
0
Congenital Heart Defects
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
Congenital Abnormality
406
58
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
Episodic tachypnea
phenotype
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases
Finding
31
1
0.100
None
0
Esotropia
disease
Eye Diseases; Nervous System Diseases
Disease or Syndrome
121
39
0.100
None
0
Failure to Thrive
disease
Pathological Conditions, Signs and Symptoms
Disease or Syndrome
842
10
0.100
None
0
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
0.310
moderate
1.000
1
2019
2019
Feeding difficulties in infancy
phenotype
Finding
305
22
0.100
None
0
Frontal bossing
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
321
22
0.100
None
0