ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
1
|
22
|
1.000 |
None |
0.982 |
16 |
22
|
1995 |
2019 |
Juberg-Marsidi syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
10
|
0.720 |
definitive |
1.000 |
17 |
10
|
1995 |
2020 |
Alpha-Thalassemia Myelodysplasia Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1
|
3
|
0.710 |
moderate |
1.000 |
1 |
3
|
2003 |
2006 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
67
|
22
|
0.470 |
None |
1.000 |
1 |
|
2003 |
2019 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
10
|
48
|
0.410 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
87
|
97
|
0.400 |
None |
1.000 |
2 |
|
2012 |
2020 |
Neuroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
47
|
166
|
0.400 |
None |
1.000 |
2 |
|
2012 |
2019 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
29
|
|
0.400 |
None |
1.000 |
1 |
|
1997 |
2011 |
Neuroendocrine Tumors
|
group |
Neoplasms
|
Neoplastic Process
|
11
|
4
|
0.380 |
None |
1.000 |
1 |
|
2011 |
2018 |
Glioblastoma Multiforme
|
disease |
Neoplasms
|
Neoplastic Process
|
111
|
31
|
0.380 |
None |
1.000 |
0 |
|
2015 |
2018 |
Malignant Glioma
|
disease |
Neoplasms
|
Neoplastic Process
|
70
|
1
|
0.320 |
None |
1.000 |
2 |
|
2013 |
2019 |
Mental retardation Smith Fineman Myers type
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
1
|
|
0.310 |
None |
1.000 |
1 |
|
2000 |
2000 |
mixed gliomas
|
disease |
Neoplasms
|
Neoplastic Process
|
70
|
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2014 |
Abdominal Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Inguinal Cryptorchidism
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Finding
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Adenoid Cystic Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
100
|
27
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Hematopoetic Myelodysplasia
|
phenotype |
Hemic and Lymphatic Diseases
|
Pathologic Function
|
29
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Pancreatic Neoplasm
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
100
|
6
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Growth Disorders
|
group |
Pathological Conditions, Signs and Symptoms
|
Pathologic Function
|
36
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bilateral Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
6
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
156
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Malignant neoplasm of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
102
|
42
|
0.300 |
None |
1.000 |
1 |
|
2011 |
2011 |
Thoracic Diseases
|
group |
Respiratory Tract Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Penile Diseases
|
group |
Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Unilateral Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
3
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |