Aase Smith syndrome 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
16
|
5
|
0.700 |
strong |
1.000 |
2 |
5
|
2008 |
2009 |
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
644
|
23
|
0.510 |
None |
1.000 |
1 |
|
2013 |
2013 |
Anemia, Diamond-Blackfan
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
38
|
0.500 |
strong |
1.000 |
12 |
7
|
2008 |
2019 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.410 |
strong |
1.000 |
1 |
|
2008 |
2008 |
Thumb deformity
|
phenotype |
Musculoskeletal Diseases
|
Finding
|
8
|
7
|
0.300 |
strong |
1.000 |
2 |
|
2008 |
2009 |
Ovarian Cysts
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
74
|
3
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Abnormality of radial ray
|
phenotype |
|
Finding
|
34
|
|
0.300 |
strong |
1.000 |
1 |
|
2008 |
2008 |
Corpus Luteum Cyst
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Cleft upper lip
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
255
|
282
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Body Height
|
phenotype |
|
Organism Attribute
|
1903
|
3972
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Finding of Mean Corpuscular Hemoglobin
|
phenotype |
|
Finding
|
653
|
1206
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
1 |
1
|
2008 |
2008 |
Abnormality of the pinna
|
phenotype |
|
Finding
|
85
|
9
|
0.100 |
None |
|
0 |
1
|
|
|
Tracheomalacia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
30
|
5
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the genital system
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
36
|
4
|
0.100 |
None |
|
0 |
|
|
|
Growth delay
|
phenotype |
|
Pathologic Function
|
244
|
40
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of thumb
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
49
|
3
|
0.100 |
None |
|
0 |
|
|
|
Orbital separation diminished
|
phenotype |
|
Finding
|
89
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Downward slant of palpebral fissure
|
phenotype |
|
Finding
|
391
|
49
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Ventricular hypertrophy
|
disease |
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases
|
Disease or Syndrome
|
60
|
9
|
0.100 |
None |
|
0 |
|
|
|
MCV - raised
|
phenotype |
|
Finding
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Erythroid hypoplasia
|
disease |
|
Disease or Syndrome
|
14
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Congenital absence of ovary
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
5
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Bifid uvula
|
disease |
|
Congenital Abnormality
|
97
|
7
|
0.100 |
None |
|
0 |
|
|
|