NEPHROTIC SYNDROME, TYPE 11
|
disease |
|
Disease or Syndrome
|
1
|
5
|
0.700 |
strong |
1.000 |
2 |
5
|
2015 |
2018 |
OVARIAN DYSGENESIS 6
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.300 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Light complexion
|
phenotype |
|
Finding
|
1
|
1
|
0.100 |
None |
|
0 |
1
|
|
|
Glomerulonephritis, Minimal Change
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
7
|
|
0.100 |
None |
|
0 |
|
|
|
Pure Gonadal Dysgenesis, 46, XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
8
|
1
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Aplasia/hypoplasia of the uterus
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Gonadal Dysgenesis, 46,XX
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
10
|
11
|
0.310 |
None |
1.000 |
1 |
|
2015 |
2015 |
Partial duplication of thumb phalanx
|
disease |
|
Anatomical Abnormality
|
12
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the ear cartilage
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|
Galloway Mowat syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases
|
Disease or Syndrome
|
15
|
1
|
0.310 |
None |
1.000 |
2 |
|
2017 |
2018 |
Osteoporosis of vertebrae
|
disease |
|
Disease or Syndrome
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Aplasia/Hypoplasia of the breasts
|
phenotype |
|
Finding
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Tubular atrophy
|
phenotype |
|
Finding
|
17
|
1
|
0.100 |
None |
|
0 |
|
|
|
Tubular Atrophy Assessment
|
phenotype |
|
Diagnostic Procedure
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Streak ovary
|
disease |
|
Congenital Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse mesangial sclerosis (disorder)
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the intervertebral disk
|
disease |
|
Anatomical Abnormality
|
30
|
|
0.100 |
None |
|
0 |
|
|
|
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
31
|
53
|
0.300 |
None |
1.000 |
1 |
|
2015 |
2015 |
Subfertility, Female
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
33
|
1
|
0.010 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Low serum estradiol levels
|
phenotype |
|
Finding
|
33
|
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating gonadotropin level
|
phenotype |
Nervous System Diseases; Endocrine System Diseases
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Aqueductal Stenosis
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
34
|
2
|
0.100 |
None |
|
0 |
|
|
|
Acquired cubitus valgus
|
disease |
|
Acquired Abnormality
|
35
|
1
|
0.100 |
None |
|
0 |
|
|
|
Hiatal Hernia
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
39
|
3
|
0.100 |
None |
|
0 |
|
|
|
Sparse pubic hair
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|