17q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2019 |
2,8-Dihydroxyadenine Urolithiasis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormal behavior
|
phenotype |
Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
910
|
121
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormal renal morphology
|
disease |
|
Congenital Abnormality
|
35
|
3
|
0.310 |
strong |
1.000 |
1 |
|
2004 |
2004 |
Abnormality of alkaline phosphatase activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of endocrine pancreas physiology
|
phenotype |
|
Pathologic Function
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of exocrine pancreas physiology
|
phenotype |
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Acute kidney injury
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Injury or Poisoning
|
185
|
3
|
0.100 |
None |
|
0 |
|
|
|
Adenocarcinoma
|
group |
Neoplasms
|
Neoplastic Process
|
2235
|
168
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Adenocarcinoma of large intestine
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
543
|
432
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Adenocarcinoma of lung (disorder)
|
disease |
Neoplasms
|
Neoplastic Process
|
2438
|
563
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Adenocarcinoma of pancreas
|
disease |
Digestive System Diseases; Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
518
|
138
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Adenocarcinoma, Clear Cell
|
disease |
Neoplasms
|
Neoplastic Process
|
117
|
6
|
0.020 |
None |
1.000 |
2 |
|
2013 |
2019 |
Adenoma
|
group |
Neoplasms
|
Neoplastic Process
|
1183
|
103
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2020 |
Adrenal Gland Pheochromocytoma
|
disease |
Neoplasms; Endocrine System Diseases
|
Neoplastic Process
|
416
|
50
|
0.010 |
None |
< 0.001 |
1 |
|
2007 |
2007 |
Adult Fanconi syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
32
|
|
0.100 |
None |
|
0 |
|
|
|
Adult Liver Carcinoma
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
1377
|
72
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Agenesis
|
disease |
|
Congenital Abnormality
|
161
|
44
|
0.020 |
None |
0.500 |
2 |
|
2011 |
2014 |
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases
|
Disease or Syndrome
|
1410
|
80
|
0.010 |
None |
1.000 |
1 |
|
2016 |
2016 |
Aplasia/Hypoplasia of the pancreas
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Arthritis
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
1072
|
69
|
0.100 |
None |
|
0 |
|
|
|
Asthenozoospermia
|
disease |
Male Urogenital Diseases
|
Disease or Syndrome
|
164
|
17
|
0.110 |
None |
1.000 |
1 |
|
2018 |
2018 |
Atrophy of pancreas
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
10
|
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |