Achalasia
|
disease |
|
Disease or Syndrome
|
40
|
5
|
0.030 |
None |
1.000 |
3 |
1
|
2005 |
2009 |
Tumor Cell Invasion
|
phenotype |
|
Neoplastic Process
|
6626
|
169
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2Q
|
disease |
|
Disease or Syndrome
|
4
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Familial glucocorticoid deficiency
|
disease |
|
Disease or Syndrome
|
9
|
4
|
0.010 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Babinski Reflex
|
phenotype |
|
Finding
|
218
|
11
|
0.100 |
None |
|
0 |
1
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Abnormal pigmentation
|
phenotype |
|
Finding
|
58
|
5
|
0.100 |
None |
|
0 |
1
|
|
|
Childhood onset
|
phenotype |
|
Finding
|
56
|
|
0.100 |
None |
|
0 |
|
|
|
Plantar hyperkeratosis
|
phenotype |
|
Finding
|
11
|
|
0.100 |
None |
|
0 |
|
|
|
Motor axonal neuropathy
|
phenotype |
|
Finding
|
27
|
4
|
0.100 |
None |
|
0 |
|
|
|
Short Stature, CTCAE
|
phenotype |
|
Finding
|
1010
|
|
0.100 |
None |
|
0 |
|
|
|
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Adrenocorticotropin receptor defect
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the calf musculature
|
disease |
|
Anatomical Abnormality
|
9
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hypothenar eminence
|
phenotype |
|
Anatomical Abnormality
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Arteriosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2006
|
267
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Atherosclerosis
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
2044
|
281
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Cardiovascular Diseases
|
group |
Cardiovascular Diseases
|
Disease or Syndrome
|
1756
|
711
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Aortic Aneurysm, Abdominal
|
disease |
Cardiovascular Diseases
|
Disease or Syndrome
|
586
|
90
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Multiple congenital anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
251
|
350
|
0.100 |
None |
1.000 |
6 |
1
|
1980 |
2015 |
Alacrima
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
16
|
1
|
0.150 |
None |
1.000 |
5 |
1
|
2003 |
2013 |
Coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
153
|
12
|
0.100 |
None |
|
0 |
|
|
|
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.100 |
None |
|
0 |
|
|
|
Polycystic Kidney, Autosomal Dominant
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
280
|
35
|
0.020 |
None |
1.000 |
2 |
|
2019 |
2019 |