46,XY Gonadal Dysgenesis, Complete or Partial, DHH-Related
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1
|
5
|
0.700 |
strong |
1.000 |
3 |
5
|
2004 |
2018 |
46,Xy Gonadal Dysgenesis, Partial, With Minifascicular Neuropathy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
strong |
1.000 |
2 |
2
|
2000 |
2012 |
Gonadal Dysgenesis, 46,XY
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
29
|
1
|
0.310 |
None |
1.000 |
2 |
|
2000 |
2018 |
Body mass index
|
phenotype |
|
Clinical Attribute
|
1014
|
2689
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Hypospadias, perineal
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
8
|
15
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Primary hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
80
|
6
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Male Pseudohermaphroditism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
50
|
4
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Micropenis
|
disease |
|
Congenital Abnormality
|
32
|
21
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Testicular dysgenesis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
13
|
2
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Cryptorchidism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
725
|
80
|
0.100 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Gait, Drop Foot
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
51
|
5
|
0.100 |
None |
|
0 |
|
|
|
Skeletal muscle atrophy
|
phenotype |
|
Pathologic Function
|
306
|
12
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of peripheral nerve conduction
|
phenotype |
|
Finding
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Sensorimotor neuropathy
|
disease |
|
Disease or Syndrome
|
93
|
21
|
0.100 |
None |
|
0 |
|
|
|
Reduced tendon reflexes
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
121
|
8
|
0.100 |
None |
|
0 |
|
|
|
Increased circulating gonadotropin level
|
phenotype |
Nervous System Diseases; Endocrine System Diseases
|
Finding
|
34
|
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of the fallopian tube
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Distal sensory impairment of all modalities
|
phenotype |
|
Finding
|
9
|
|
0.100 |
None |
|
0 |
|
|
|
Sensory ataxic neuropathy
|
phenotype |
|
Finding
|
3
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormal vagina morphology
|
phenotype |
|
Finding
|
12
|
|
0.100 |
None |
|
0 |
|
|
|
Decreased number of peripheral myelinated nerve fibers
|
phenotype |
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
178
|
18
|
0.100 |
None |
|
0 |
|
|
|
Infantile uterus
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
43
|
|
0.100 |
None |
|
0 |
|
|
|
Streak ovary
|
disease |
|
Congenital Abnormality
|
21
|
|
0.100 |
None |
|
0 |
|
|
|
Polycystic Ovary Syndrome
|
disease |
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
988
|
363
|
0.100 |
None |
|
0 |
|
|
|