Abnormality of the skeletal system
|
disease |
|
Anatomical Abnormality
|
148
|
18
|
0.030 |
None |
1.000 |
3 |
|
2015 |
2019 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
1
|
|
|
Kyphosis deformity of spine
|
phenotype |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
305
|
10
|
0.100 |
None |
|
0 |
|
|
|
Hip Dysplasia
|
disease |
Musculoskeletal Diseases; Wounds and Injuries
|
Anatomical Abnormality
|
128
|
16
|
0.100 |
None |
|
0 |
|
|
|
Spinal fusion
|
disease |
|
Anatomical Abnormality
|
67
|
2
|
0.100 |
None |
|
0 |
|
|
|
Retrognathia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Anatomical Abnormality
|
191
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Shortening of all phalanges of fingers
|
disease |
|
Anatomical Abnormality
|
3
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Abnormal hair pattern
|
disease |
|
Anatomical Abnormality
|
15
|
1
|
0.100 |
None |
|
0 |
|
|
|
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
18 |
3
|
2004 |
2017 |
Dysmorphic features
|
disease |
|
Congenital Abnormality
|
439
|
617
|
0.100 |
None |
1.000 |
17 |
15
|
2004 |
2017 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.140 |
None |
1.000 |
4 |
1
|
2012 |
2019 |
Macrodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
12
|
1
|
0.130 |
None |
1.000 |
3 |
|
2015 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Congenital anomaly of face
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases
|
Congenital Abnormality
|
114
|
7
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
234
|
4
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Alveolar capillary dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
|
0 |
1
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Hypodontia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
218
|
48
|
0.100 |
None |
|
0 |
|
|
|
Macrostomia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
148
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Micrognathism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
586
|
53
|
0.100 |
None |
|
0 |
|
|
|