Spontaneous abortion
|
phenotype |
Female Urogenital Diseases and Pregnancy Complications
|
Pathologic Function
|
188
|
|
0.100 |
None |
|
0 |
|
|
|
X INACTIVATION, FAMILIAL SKEWED, 1 (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
|
0 |
|
|
|
Severe intellectual disability
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
429
|
74
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Congenital malformation syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
57
|
2
|
0.010 |
None |
1.000 |
1 |
|
1993 |
1993 |
Klinefelter Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
150
|
18
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2007 |
leukemia
|
disease |
Neoplasms
|
Neoplastic Process
|
2111
|
144
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2018 |
Klinefelter's syndrome - male with more than two X chromosomes
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
90
|
5
|
0.020 |
None |
1.000 |
2 |
|
1994 |
2007 |
Seminoma
|
disease |
Neoplasms
|
Neoplastic Process
|
311
|
12
|
0.020 |
None |
1.000 |
2 |
|
1997 |
2003 |
Prune Belly Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Disease or Syndrome
|
83
|
2
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Testicular Neoplasms
|
group |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
124
|
31
|
0.010 |
None |
1.000 |
1 |
|
1997 |
1997 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.010 |
None |
1.000 |
1 |
|
1998 |
1998 |
Mental Retardation
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
505
|
98
|
0.040 |
None |
0.500 |
4 |
|
2000 |
2004 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.040 |
None |
0.500 |
4 |
|
2000 |
2004 |
MYELODYSPLASTIC SYNDROME
|
group |
Hemic and Lymphatic Diseases
|
Neoplastic Process
|
1033
|
95
|
0.020 |
None |
1.000 |
2 |
|
2000 |
2000 |
Myelodysplasia
|
disease |
|
Congenital Abnormality
|
181
|
4
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Preleukemia
|
disease |
Neoplasms; Hemic and Lymphatic Diseases
|
Neoplastic Process
|
19
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Kabuki make-up syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases
|
Congenital Abnormality
|
37
|
253
|
0.010 |
None |
1.000 |
1 |
|
2001 |
2001 |
Adult Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
93
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Developmental delay (disorder)
|
phenotype |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
584
|
68
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Childhood Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
95
|
3
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Teratoma
|
disease |
Neoplasms
|
Neoplastic Process
|
171
|
8
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Global developmental delay
|
disease |
|
Mental or Behavioral Dysfunction
|
1825
|
553
|
0.010 |
None |
1.000 |
1 |
|
2002 |
2002 |
Testicular Germ Cell Tumor
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
208
|
93
|
0.020 |
None |
1.000 |
2 |
|
2003 |
2007 |
Childhood Testicular Germ Cell Tumor
|
disease |
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases
|
Neoplastic Process
|
55
|
|
0.010 |
None |
1.000 |
1 |
|
2003 |
2003 |