Abnormal sacrum morphology
disease
Anatomical Abnormality
17
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 female internal genitalia
disease
Anatomical Abnormality
31
0.100
None
0
Absence of rib
phenotype
Congenital Abnormality
18
1
0.100
None
0
Accessory rib
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
12
0.100
None
0
Anemia, Sickle Cell
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
Disease or Syndrome
434
138
0.030
None
1.000
3
2013
2019
Anteverted nostril
phenotype
Finding
407
35
0.100
None
0
Atresia of vagina
disease
Congenital Abnormality
16
0.010
None
1.000
1
2019
2019
Atrioventricular Block
disease
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
Disease or Syndrome
63
17
0.010
None
1.000
1
2018
2018
Autosomal dominant spondylocostal dysostosis
disease
Musculoskeletal Diseases
Disease or Syndrome
3
0.520
None
1.000
3
1985
2017
Blood basophil count (lab test)
phenotype
Laboratory Procedure
272
452
0.100
None
1.000
1
1
2016
2016
Butterfly vertebrae
phenotype
Congenital Abnormality
13
2
0.100
None
0
×
CUI:
C1968949
Disease:
Cakut
Cakut
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
Disease or Syndrome
72
8
0.320
None
1.000
2
2019
2019
Cleft Palate
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
Congenital Abnormality
611
158
0.100
None
0
Congenital Abnormality
group
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormality
1098
73
0.070
None
1.000
7
2010
2019
Congenital defects
group
Congenital Abnormality
126
6
0.010
None
1.000
1
2019
2019
Congenital hemivertebra
disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
Congenital Abnormality
49
4
0.120
None
1.000
2
2015
2017
Congenital scoliosis
disease
Musculoskeletal Diseases
Congenital Abnormality
21
7
0.100
None
1.000
11
1
2010
2020
Defect of vertebral segmentation
disease
Musculoskeletal Diseases
Congenital Abnormality
40
6
0.100
None
0
Deformity
group
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Anatomical Abnormality
350
26
0.020
None
1.000
2
2010
2017
Deformity of spine
disease
Anatomical Abnormality
58
2
0.010
None
1.000
1
2016
2016
Disproportionate short-trunk short stature
phenotype
Finding
19
2
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
Eosinophil count procedure
phenotype
Laboratory Procedure
610
1144
0.100
None
1.000
1
1
2016
2016
Fetal Growth Retardation
phenotype
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
Disease or Syndrome
1037
21
0.100
None
0