FANCONI ANEMIA, COMPLEMENTATION GROUP L
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.610 |
None |
1.000 |
10 |
4
|
2003 |
2017 |
Gonadal Dysgenesis, 46,XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
10
|
11
|
0.200 |
None |
|
0 |
|
|
|
VACTERL Association
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Cardiovascular Diseases
|
Congenital Abnormality
|
15
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Chromosome Breakage
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Cell or Molecular Dysfunction
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
FANCONI ANEMIA, COMPLEMENTATION GROUP D2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
19
|
7
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2017 |
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
|
|
0.300 |
strong |
1.000 |
1 |
|
2003 |
2003 |
Abnormality of chromosome stability
|
phenotype |
|
Cell or Molecular Dysfunction
|
34
|
1
|
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 |
|
|
|
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 |
|
|
|
Aplasia/Hypoplasia of the radius
|
phenotype |
|
Finding
|
45
|
|
0.100 |
None |
|
0 |
|
|
|
ULNAR HYPOPLASIA
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of aortic valve
|
disease |
|
Anatomical Abnormality
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the iris
|
disease |
|
Anatomical Abnormality
|
52
|
|
0.100 |
None |
|
0 |
|
|
|