17q12 microdeletion syndrome
|
disease |
|
Disease or Syndrome
|
1
|
|
0.040 |
None |
1.000 |
4 |
|
2012 |
2019 |
Bilateral Multicystic Dysplastic Kidneys
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome; Congenital Abnormality
|
1
|
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2013 |
Congenital atresia of vas deferens
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of alkaline phosphatase activity
|
phenotype |
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
MULTICYSTIC RENAL DYSPLASIA, BILATERAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
2
|
3
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2013 |
bilateral agenesis
|
disease |
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
BPES type I
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Ureterovesical junction obstruction
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
2
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Decreased numbers of nephrons
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 3
|
disease |
|
Disease or Syndrome
|
2
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
CHROMOSOME 17q12 DELETION SYNDROME
|
disease |
|
Disease or Syndrome
|
2
|
|
0.300 |
None |
|
0 |
|
|
|
Unilateral Multicystic Dysplastic Kidney
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome; Congenital Abnormality
|
3
|
|
0.310 |
None |
1.000 |
2 |
|
2010 |
2013 |
Multiple cysts
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Acquired Abnormality
|
3
|
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Abnormality of exocrine pancreas physiology
|
phenotype |
|
Pathologic Function
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Pancreatic aplasia
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital anomaly of bile ducts
|
group |
Digestive System Diseases
|
Congenital Abnormality
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Abnormality of endocrine pancreas physiology
|
phenotype |
|
Pathologic Function
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Renal cysts and diabetes syndrome
|
disease |
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
5
|
42
|
0.800 |
definitive |
1.000 |
74 |
42
|
1997 |
2019 |
Medullary cystic kidney disease 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2006 |
Medullary Cystic Kidney Disease Type 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
5
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |
Spermatocele
|
disease |
Pathological Conditions, Signs and Symptoms; Male Urogenital Diseases
|
Disease or Syndrome
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the pancreas
|
phenotype |
|
Finding
|
5
|
|
0.100 |
None |
|
0 |
|
|
|
Hyperuricemic Nephropathy, Familial Juvenile 1
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
6
|
18
|
0.040 |
None |
1.000 |
4 |
|
2003 |
2011 |
SeSAME syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
6
|
12
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
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 |