HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.700 |
limited |
1.000 |
2 |
4
|
2011 |
2013 |
HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO
|
phenotype |
|
Finding
|
2
|
3
|
0.100 |
None |
|
0 |
3
|
|
|
Hypothalamic gonadotropin-releasing hormone deficiency
|
phenotype |
|
Finding
|
22
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypogonadotropic hypogonadism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases
|
Disease or Syndrome
|
23
|
10
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Erectile abnormalities
|
disease |
|
Finding
|
24
|
|
0.100 |
None |
|
0 |
|
|
|
Dyspareunia
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Mental Disorders
|
Finding
|
37
|
|
0.100 |
None |
|
0 |
|
|
|
Congenital hypoplasia of breast
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
38
|
|
0.100 |
None |
|
0 |
|
|
|
Mirror movements disorder
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
39
|
9
|
0.100 |
None |
|
0 |
|
|
|
Sparse axillary hair
|
phenotype |
|
Finding
|
39
|
|
0.100 |
None |
|
0 |
|
|
|
Anosmia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
40
|
4
|
0.100 |
None |
|
0 |
|
|
|
Sparse pubic hair
|
phenotype |
|
Finding
|
42
|
|
0.100 |
None |
|
0 |
|
|
|
Anterior hypopituitarism
|
disease |
Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
48
|
|
0.100 |
None |
|
0 |
|
|
|
Cartilage-hair hypoplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Immune System Diseases
|
Disease or Syndrome; Congenital Abnormality
|
49
|
77
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Decreased fertility
|
phenotype |
|
Finding
|
50
|
|
0.100 |
None |
|
0 |
|
|
|
Paraplegia
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
59
|
|
0.100 |
None |
|
0 |
|
|
|
Sense of smell impaired
|
phenotype |
Nervous System Diseases
|
Sign or Symptom
|
60
|
12
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the voice
|
disease |
|
Finding
|
64
|
|
0.100 |
None |
|
0 |
|
|
|
Reduced number of teeth
|
phenotype |
|
Finding
|
67
|
11
|
0.100 |
None |
|
0 |
|
|
|
Reduced bone mineral density
|
phenotype |
|
Finding
|
76
|
2
|
0.100 |
None |
|
0 |
|
|
|
Idiopathic hypogonadotropic hypogonadism
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
82
|
66
|
0.300 |
None |
|
0 |
|
|
|
Kallmann Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
86
|
30
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Color vision defect
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Abortion, Tubal
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Early Pregnancy Loss
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Finding
|
109
|
|
0.300 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.100 |
None |
|
0 |
|
|
|