Abnormal cartilage morphology
|
phenotype |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the nasopharynx
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal nasolacrimal system morphology
|
disease |
|
Anatomical Abnormality
|
23
|
|
0.100 |
None |
|
0 |
|
|
|
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms
|
Congenital Abnormality
|
1
|
17
|
0.750 |
strong |
0.889 |
9 |
17
|
2003 |
2019 |
Developmental absence of tooth
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
41
|
15
|
0.070 |
None |
0.857 |
7 |
4
|
2004 |
2020 |
Encephalocraniocutaneous lipomatosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Congenital Abnormality
|
5
|
6
|
0.740 |
None |
1.000 |
7 |
4
|
2009 |
2020 |
Osteoglophonic dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
100
|
4
|
0.730 |
None |
1.000 |
7 |
4
|
2003 |
2020 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.450 |
None |
0.833 |
6 |
1
|
2004 |
2019 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.050 |
None |
1.000 |
5 |
|
2003 |
2017 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.340 |
None |
0.800 |
5 |
|
2004 |
2019 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.430 |
None |
1.000 |
4 |
2
|
2007 |
2017 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.140 |
None |
1.000 |
4 |
|
2008 |
2015 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.640 |
None |
0.750 |
4 |
|
2000 |
2019 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.040 |
None |
0.750 |
4 |
|
2004 |
2019 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.030 |
None |
1.000 |
3 |
1
|
2005 |
2014 |
Cleft palate with cleft lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
119
|
43
|
0.030 |
None |
0.667 |
3 |
5
|
2006 |
2015 |
Interfrontal craniofaciosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
7
|
2
|
0.610 |
strong |
1.000 |
3 |
2
|
2000 |
2006 |
Split-Hand/Foot Malformation
|
disease |
Pathological Conditions, Signs and Symptoms
|
Congenital Abnormality
|
50
|
6
|
0.030 |
None |
1.000 |
3 |
1
|
2013 |
2017 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.020 |
None |
1.000 |
2 |
|
2012 |
2015 |
Apert syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
24
|
0.020 |
None |
1.000 |
2 |
1
|
1997 |
2007 |
Syndactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
127
|
26
|
0.120 |
None |
1.000 |
2 |
2
|
2014 |
2015 |
Holoprosencephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
109
|
45
|
0.120 |
None |
1.000 |
2 |
2
|
2016 |
2018 |
Congenital contractural arachnodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
559
|
48
|
0.020 |
None |
1.000 |
2 |
|
2016 |
2019 |
Congenital Hand Deformities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Congenital Heart Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
406
|
58
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |