FANCONI ANEMIA, COMPLEMENTATION GROUP W
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.400 |
None |
1.000 |
2 |
2
|
2017 |
2017 |
Megakaryocyte dysplasia
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Polysplenia
|
disease |
|
Congenital Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Thumb absent
|
phenotype |
|
Finding
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Thumb aplasia
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the preputium
|
disease |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the uvula
|
phenotype |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of fingers
|
phenotype |
|
Anatomical Abnormality
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Pyridoxine-responsive sideroblastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Absent testes
|
phenotype |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Stenosis of duodenum
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormal aortic morphology
|
disease |
|
Anatomical Abnormality
|
29
|
1
|
0.100 |
None |
|
0 |
|
|
|
Decreased fertility in males
|
phenotype |
Male Urogenital Diseases
|
Finding
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Clubbing of toes
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal carotid artery morphology
|
disease |
|
Anatomical Abnormality
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of femur morphology
|
disease |
|
Anatomical Abnormality
|
33
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of chromosome stability
|
phenotype |
|
Cell or Molecular Dysfunction
|
34
|
1
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of radius
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
37
|
5
|
0.100 |
None |
|
0 |
|
|
|
Duodenal atresia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
39
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal localization of kidney
|
disease |
|
Anatomical Abnormality
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Almond-shaped palpebral fissure
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Accessory spleen
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
41
|
|
0.100 |
None |
|
0 |
|
|
|
Bicornuate uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
44
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the periventricular white matter
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Anatomical Abnormality
|
45
|
7
|
0.100 |
None |
|
0 |
|
|
|