Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.100 |
None |
|
0 |
|
|
|
Syndactyly of the toes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
129
|
11
|
0.100 |
None |
|
0 |
|
|
|
Megaduodenum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
96
|
8
|
0.100 |
None |
|
0 |
|
|
|
Uterine Anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of penis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
237
|
|
0.100 |
None |
|
0 |
|
|
|
Microcornea
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
10
|
0.100 |
None |
|
0 |
|
|
|
Perimembranous ventricular septal defect
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
9
|
3
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of nipple
|
disease |
|
Congenital Abnormality
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Absent finger
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
26
|
|
0.100 |
None |
|
0 |
|
|
|
Hypospadias
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
366
|
80
|
0.100 |
None |
|
0 |
|
|
|
Talipes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
74
|
2
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
Oligodactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
20
|
|
0.100 |
None |
|
0 |
|
|
|
Cornelia De Lange Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
48
|
3
|
0.700 |
definitive |
1.000 |
25 |
|
2007 |
2020 |
CORNELIA DE LANGE SYNDROME 4
|
disease |
|
Disease or Syndrome
|
6
|
11
|
0.610 |
None |
1.000 |
6 |
11
|
2012 |
2019 |
Chronic intestinal pseudo-obstruction
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
17
|
10
|
0.020 |
None |
1.000 |
2 |
|
2015 |
2018 |
Sclerocornea
|
disease |
Eye Diseases
|
Disease or Syndrome
|
42
|
3
|
0.020 |
None |
1.000 |
2 |
1
|
2019 |
2019 |
Blepharoptosis
|
disease |
Eye Diseases
|
Disease or Syndrome
|
595
|
57
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Hepatitis C
|
disease |
Digestive System Diseases; Infections
|
Disease or Syndrome
|
1768
|
347
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypoglycemia
|
disease |
Nutritional and Metabolic Diseases
|
Disease or Syndrome
|
420
|
42
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Laryngeal Diseases
|
group |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
159
|
7
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Leukoencephalopathy, Progressive Multifocal
|
disease |
Infections; Nervous System Diseases
|
Disease or Syndrome
|
240
|
4
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Thalassemia
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
136
|
18
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Turner Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
162
|
21
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |