Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
1.000 |
1 |
|
1997 |
1997 |
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 |
|
|
|
Ectopic kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
41
|
3
|
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 |
|
|
|
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
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 |
|
|
|
Horseshoe Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
51
|
3
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the iris
|
disease |
|
Anatomical Abnormality
|
52
|
|
0.100 |
None |
|
0 |
|
|
|
Irregular hyperpigmentation
|
phenotype |
Skin and Connective Tissue Diseases
|
Finding
|
55
|
2
|
0.100 |
None |
|
0 |
|
|
|
Triphalangeal thumb
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
56
|
15
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
|
|
|
Cafe au lait spots, multiple
|
disease |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
61
|
13
|
0.100 |
None |
|
0 |
|
|
|
Meckel Diverticulum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Congenital Abnormality
|
63
|
|
0.100 |
None |
|
0 |
|
|
|
Bone marrow hypocellularity
|
phenotype |
|
Finding
|
64
|
5
|
0.300 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Myelodysplasia, CTCAE
|
phenotype |
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Dilatation of ureter
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Anatomical Abnormality
|
72
|
2
|
0.100 |
None |
|
0 |
|
|
|
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Cafe-au-Lait Spots
|
phenotype |
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
Finding
|
74
|
32
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the liver
|
phenotype |
|
Finding
|
75
|
8
|
0.100 |
None |
|
0 |
|
|
|
Reduced bone mineral density
|
phenotype |
|
Finding
|
76
|
2
|
0.100 |
None |
|
0 |
|
|
|