Maturation defect
|
phenotype |
|
Acquired Abnormality
|
43
|
2
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Retinal defect
|
phenotype |
Eye Diseases
|
Anatomical Abnormality
|
13
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Hand deformities
|
group |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
60
|
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 |
|
|
|
Partial duplication of thumb phalanx
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.100 |
None |
1.000 |
11 |
|
1997 |
2018 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.030 |
None |
1.000 |
3 |
|
1996 |
1997 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.120 |
None |
1.000 |
2 |
|
2018 |
2019 |
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.020 |
None |
1.000 |
2 |
|
2014 |
2019 |
Triphalangeal thumb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
56
|
15
|
0.300 |
strong |
1.000 |
2 |
|
1991 |
2004 |
Congenital neutropenia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
68
|
11
|
0.020 |
None |
1.000 |
2 |
|
2010 |
2011 |
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
0.400 |
strong |
1.000 |
2 |
|
1991 |
2004 |
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.400 |
strong |
1.000 |
2 |
|
1991 |
2004 |
Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.110 |
None |
1.000 |
1 |
|
2001 |
2001 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Congenital defects
|
group |
|
Congenital Abnormality
|
126
|
6
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.010 |
None |
1.000 |
1 |
|
1999 |
1999 |
Congenital hernia of foramen of Bochdalek
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Splenic Hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases
|
Congenital Abnormality
|
18
|
9
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital erythroid hypoplasia
|
disease |
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cleft palate, isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
295
|
70
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Ductal plate malformation
|
disease |
|
Congenital Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Uranostaphyloschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
190
|
75
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |