5q35 microduplication syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.110 |
None |
1.000 |
1 |
1
|
2006 |
2006 |
Abnormal mental state
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
24
|
2
|
0.010 |
None |
1.000 |
1 |
|
2007 |
2007 |
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of immune system physiology
|
phenotype |
|
Pathologic Function
|
42
|
1
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the metaphysis
|
disease |
|
Anatomical Abnormality
|
97
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the urinary system
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
50
|
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Abnormally low-pitched voice
|
disease |
|
Anatomical Abnormality
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Accessory kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
20
|
1
|
0.100 |
None |
|
0 |
|
|
|
Acute monocytic leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
633
|
22
|
0.040 |
None |
1.000 |
4 |
|
2002 |
2016 |
Acute Myeloid Leukemia (AML-M2)
|
disease |
Neoplasms
|
Neoplastic Process
|
143
|
5
|
0.300 |
None |
|
0 |
|
|
|
Acute Myeloid Leukemia with Myelodysplasia-Related Changes
|
disease |
Neoplasms
|
Neoplastic Process
|
23
|
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Acute Myeloid Leukemia, M1
|
disease |
Neoplasms
|
Neoplastic Process
|
138
|
|
0.300 |
None |
|
0 |
|
|
|
Acute myelomonocytic leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
105
|
3
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Adenoid Cystic Carcinoma
|
disease |
Neoplasms
|
Neoplastic Process
|
325
|
30
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Adult Acute Myeloblastic Leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
160
|
3
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adult Diffuse Large B-Cell Lymphoma
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
504
|
46
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Advanced bone age
|
phenotype |
|
Finding
|
64
|
4
|
0.100 |
None |
|
0 |
|
|
|
alpha-Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
86
|
37
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
alpha^+^ Thalassemia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
92
|
16
|
0.010 |
None |
1.000 |
1 |
|
2008 |
2008 |
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the corpus callosum
|
phenotype |
|
Finding
|
108
|
8
|
0.100 |
None |
|
0 |
|
|
|
Arnold-Chiari Malformation, Type I
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
41
|
1
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
|
|
|