NEPHROTIC SYNDROME, TYPE 4
|
disease |
|
Disease or Syndrome
|
1
|
9
|
0.700 |
None |
1.000 |
7 |
9
|
1992 |
2013 |
MEACHAM SYNDROME (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
3
|
0.700 |
None |
1.000 |
3 |
3
|
2007 |
2013 |
Nephrogenic rest, intralobar
|
disease |
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Gonadal tissue inappropriate for external genitalia or chromosomal sex
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Finding
|
1
|
|
0.100 |
None |
|
0 |
|
|
|
Gonadal dysgenesis with female appearance, male
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Increased proinsulin:insulin ratio
|
phenotype |
|
Finding
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Deletion 11p13
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
3
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Childhood Kidney Neoplasm
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Neoplastic Process
|
4
|
|
0.020 |
None |
1.000 |
2 |
|
1998 |
2017 |
Leukemia, Eosinophilic, Acute
|
disease |
Neoplasms
|
Neoplastic Process
|
4
|
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Aniridia type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
4
|
87
|
0.100 |
None |
|
0 |
1
|
|
|
Dysfunction of lateral corticospinal tracts
|
phenotype |
|
Finding
|
4
|
|
0.100 |
None |
|
0 |
|
|
|
Schwannomatosis, Plexiform
|
disease |
Neoplasms
|
Neoplastic Process
|
5
|
|
0.300 |
None |
1.000 |
1 |
|
2014 |
2014 |
Skull Base Meningioma
|
disease |
Neoplasms; Musculoskeletal Diseases; Nervous System Diseases
|
Neoplastic Process
|
5
|
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Frasier Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
17
|
0.800 |
None |
1.000 |
28 |
17
|
1992 |
2017 |
Myofibroblastoma
|
disease |
Neoplasms
|
Neoplastic Process
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2014 |
2014 |
Esophageal Squamous Intraepithelial Neoplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Histiocytosis with joint contractures and sensorineural deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Disease or Syndrome
|
6
|
18
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Hypergonadotropic Ovarian Failure, X-Linked
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
6
|
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Bronchopulmonary Sequestration
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases
|
Congenital Abnormality
|
6
|
|
0.100 |
None |
|
0 |
|
|
|
Intralobar nephroblastomatosis
|
disease |
|
Neoplastic Process
|
7
|
|
0.020 |
None |
1.000 |
2 |
|
1991 |
2007 |
Hyaloideoretinal degeneration of Wagner
|
disease |
Eye Diseases
|
Disease or Syndrome
|
7
|
6
|
0.300 |
strong |
1.000 |
1 |
|
2013 |
2013 |
Chronic myeloid leukemia, BCR/ABL-positive
|
disease |
Neoplasms
|
Neoplastic Process
|
7
|
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Premature Ovarian Failure 1
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
7
|
2
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Hydrometrocolpos
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
7
|
2
|
0.100 |
None |
|
0 |
|
|
|
Nephrotic range proteinuria
|
phenotype |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
7
|
7
|
0.100 |
None |
|
0 |
2
|
|
|