Abnormal localization of kidney
|
disease |
|
Anatomical Abnormality
|
40
|
|
0.100 |
None |
|
0 |
|
|
|
Almond-shaped palpebral fissure
|
phenotype |
|
Finding
|
40
|
1
|
0.100 |
None |
|
0 |
|
|
|
Neoplasm of uncertain or unknown behavior of breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
41
|
|
0.500 |
strong |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
|
|
Hereditary Prostate Carcinoma
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
45
|
12
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Aplasia/Hypoplasia of the radius
|
phenotype |
|
Finding
|
45
|
|
0.100 |
None |
|
0 |
|
|
|
Primary peritoneal carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
49
|
|
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 |
|
|
|
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 |
|
|
|
Dyskeratosis Congenita
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
58
|
146
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
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 |
|
|
|
Hereditary Malignant Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
63
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
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
|
0.400 |
strong |
1.000 |
1 |
|
2017 |
2017 |
Myelodysplasia, CTCAE
|
phenotype |
|
Finding
|
68
|
|
0.100 |
None |
|
0 |
|
|
|
Severe Aplastic Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
70
|
4
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Female Breast Carcinoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
71
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Malignant neoplasm of female breast
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Neoplastic Process
|
71
|
15
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
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 |
|
|
|
Hereditary Breast and Ovarian Cancer Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Endocrine System Diseases
|
Neoplastic Process
|
74
|
2117
|
0.410 |
None |
1.000 |
14 |
9
|
2005 |
2019 |