LAMB-SHAFFER SYNDROME
|
disease |
|
Disease or Syndrome
|
5
|
7
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Syrinx formation
|
disease |
|
Anatomical Abnormality
|
18
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Dopa-Responsive Dystonia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
28
|
33
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Syringomyelia
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
35
|
4
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Extraskeletal Myxoid Chondrosarcoma
|
disease |
Neoplasms
|
Neoplastic Process
|
50
|
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Systolic blood pressure measurement
|
phenotype |
|
Diagnostic Procedure
|
54
|
95
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
CAMPOMELIC DYSPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
68
|
20
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Gastroparesis
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
95
|
7
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Blood Pressure
|
phenotype |
|
Organism Function
|
109
|
220
|
0.100 |
None |
1.000 |
3 |
4
|
2011 |
2013 |
Anorectal Malformations
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases
|
Anatomical Abnormality
|
112
|
6
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Bone Density
|
phenotype |
|
Clinical Attribute
|
138
|
654
|
0.100 |
None |
1.000 |
1 |
6
|
2018 |
2018 |
Cooley's anemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
144
|
19
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Mean blood pressure
|
phenotype |
|
Finding
|
146
|
344
|
0.100 |
None |
1.000 |
2 |
3
|
2018 |
2018 |
beta^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
156
|
44
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |
beta Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
198
|
103
|
0.030 |
None |
1.000 |
3 |
|
2017 |
2018 |
Alcohol consumption
|
phenotype |
Behavior and Behavior Mechanisms
|
Individual Behavior
|
210
|
535
|
0.100 |
None |
1.000 |
1 |
6
|
2018 |
2018 |
Carotid Atherosclerosis
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
219
|
79
|
0.010 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Reticulocyte count (procedure)
|
phenotype |
|
Laboratory Procedure
|
234
|
474
|
0.100 |
None |
1.000 |
1 |
3
|
2016 |
2016 |
Androgen-Insensitivity Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
247
|
176
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
insulinoma
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
258
|
8
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Mean Corpuscular Volume (result)
|
phenotype |
|
Laboratory or Test Result
|
269
|
549
|
0.100 |
None |
1.000 |
2 |
3
|
2016 |
2018 |
Serum LDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
269
|
555
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
2
|
2012 |
2012 |
Microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
337
|
40
|
0.020 |
None |
1.000 |
2 |
|
2018 |
2018 |