Hearing abnormality
|
disease |
|
Finding
|
24
|
5
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Abnormality of copper homeostasis
|
phenotype |
|
Finding
|
3
|
2
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Skin Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
106
|
16
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Heterotaxy, Visceral, 3, Autosomal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
29
|
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 4, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
29
|
2
|
0.200 |
None |
|
0 |
|
|
|
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED
|
disease |
|
Disease or Syndrome
|
30
|
3
|
0.200 |
None |
|
0 |
|
|
|
Heterotaxy Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
39
|
8
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 6, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
30
|
2
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 1, X-LINKED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
30
|
17
|
0.200 |
None |
|
0 |
|
|
|
HETEROTAXY, VISCERAL, 2, AUTOSOMAL
|
disease |
|
Disease or Syndrome
|
39
|
5
|
0.200 |
None |
|
0 |
|
|
|
Ciliary Motility Disorders
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
59
|
402
|
0.200 |
None |
|
0 |
|
|
|
Kartagener Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
67
|
3
|
0.200 |
None |
|
0 |
|
|
|
Reticulocyte count (procedure)
|
phenotype |
|
Laboratory Procedure
|
234
|
474
|
0.100 |
None |
1.000 |
1 |
2
|
2016 |
2016 |
Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
634
|
43
|
0.030 |
None |
1.000 |
3 |
|
1994 |
2010 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2005 |
Ichthyoses
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
194
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Congenital ichthyosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
80
|
11
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Meningioma, benign, no ICD-O subtype
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
404
|
30
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Adult Meningioma
|
disease |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
405
|
30
|
0.010 |
None |
1.000 |
1 |
|
1994 |
1994 |
Agnosia for Pain
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
204
|
25
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |