8p11.2 deletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2012 |
2012 |
Abdomen distended
|
phenotype |
Digestive System Diseases
|
Finding
|
103
|
6
|
0.100 |
None |
|
0 |
|
|
|
Abdominal Pain
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Sign or Symptom
|
302
|
18
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the hypothalamus-pituitary axis
|
disease |
|
Anatomical Abnormality
|
70
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the outer ear
|
disease |
|
Anatomical Abnormality
|
95
|
8
|
0.100 |
None |
|
0 |
|
|
|
Accessory rib
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Acute Cerebrovascular Accidents
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Disease or Syndrome
|
155
|
2
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Acute Megakaryocytic Leukemias
|
disease |
Neoplasms
|
Neoplastic Process
|
159
|
15
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Adult T-Cell Lymphoma/Leukemia
|
disease |
Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
540
|
11
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Alzheimer Disease, Late Onset
|
disease |
Nervous System Diseases; Mental Disorders
|
Mental or Behavioral Dysfunction
|
385
|
243
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Alzheimer's Disease
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
3397
|
1843
|
0.080 |
None |
1.000 |
8 |
|
2014 |
2019 |
Anemia
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
847
|
94
|
0.110 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Anemia, Hemolytic
|
disease |
Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
154
|
31
|
0.110 |
None |
1.000 |
1 |
|
1990 |
1990 |
Anemia, hereditary spherocytic hemolytic
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Ankle brachial pressure index (observable entity)
|
phenotype |
|
Clinical Attribute
|
7
|
40
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
Ankylosing spondylitis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
710
|
609
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2005 |
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
|
0 |
|
|
|
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2006 |
Arthropathy
|
group |
Musculoskeletal Diseases
|
Disease or Syndrome
|
187
|
10
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Asthma
|
disease |
Respiratory Tract Diseases; Immune System Diseases
|
Disease or Syndrome
|
2096
|
1536
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Ataxia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Sign or Symptom
|
868
|
68
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.100 |
None |
|
0 |
|
|
|
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Azoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
254
|
70
|
0.100 |
None |
|
0 |
|
|
|
Birth Weight
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Organism Attribute
|
214
|
369
|
0.100 |
None |
1.000 |
2 |
1
|
2016 |
2019 |