Elevated hepatic transaminase
|
phenotype |
|
Finding
|
212
|
9
|
0.100 |
None |
|
0 |
|
|
|
Enlargement of the costochondral junction
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Epistaxis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Pathologic Function
|
82
|
4
|
0.100 |
None |
|
0 |
|
|
|
Exocrine pancreatic insufficiency
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
82
|
26
|
0.110 |
None |
1.000 |
1 |
|
2007 |
2007 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Gait abnormality
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
312
|
23
|
0.100 |
None |
|
0 |
|
|
|
Gait Disturbance, CTCAE
|
phenotype |
|
Finding
|
299
|
|
0.100 |
None |
|
0 |
|
|
|
Generalized hypotonia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
955
|
164
|
0.100 |
None |
|
0 |
|
|
|
Gingival Hemorrhage
|
phenotype |
Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases
|
Pathologic Function
|
50
|
2
|
0.100 |
None |
|
0 |
|
|
|
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.100 |
None |
|
0 |
|
|
|
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
|
disease |
|
Disease or Syndrome
|
593
|
24
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Hematological Disease
|
group |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
255
|
16
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Hepatomegaly
|
phenotype |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Finding
|
523
|
30
|
0.100 |
None |
|
0 |
|
|
|
Hip joint varus deformity - observation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases
|
Finding
|
49
|
2
|
0.100 |
None |
|
0 |
|
|
|
Hypoplastic anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
12
|
|
0.300 |
None |
|
0 |
|
|
|
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.100 |
None |
|
0 |
|
|
|
Impaired cognition
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1630
|
348
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Inherited bone marrow failure syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
11
|
3
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.100 |
None |
|
0 |
|
|
|
Irregular ossification at anterior rib ends
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Isochromosomes
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Acquired Abnormality
|
75
|
2
|
0.020 |
None |
1.000 |
2 |
|
2004 |
2009 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.030 |
None |
1.000 |
3 |
|
2005 |
2011 |
Leukemia, Myelocytic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
3111
|
6892
|
0.620 |
strong |
1.000 |
3 |
|
2005 |
2017 |
Leukemogenesis
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
996
|
25
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Leukopenia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
440
|
153
|
0.020 |
None |
1.000 |
2 |
|
2009 |
2016 |