Congenital chromosomal disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
757
|
47
|
0.010 |
None |
< 0.001 |
1 |
|
2011 |
2011 |
Dwarfism
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases
|
Congenital Abnormality
|
1261
|
77
|
0.100 |
None |
|
0 |
|
|
|
Macrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
367
|
10
|
0.100 |
None |
|
0 |
|
|
|
Congenital Epicanthus
|
disease |
|
Congenital Abnormality
|
417
|
30
|
0.100 |
None |
|
0 |
|
|
|
Clinodactyly of the 5th finger
|
disease |
|
Congenital Abnormality
|
284
|
39
|
0.100 |
None |
|
0 |
|
|
|
FRAXE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
11
|
2
|
0.740 |
definitive |
1.000 |
13 |
1
|
1993 |
2013 |
Fragile X Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
194
|
11
|
0.340 |
None |
1.000 |
4 |
|
1999 |
2013 |
Mental Retardation, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
141
|
13
|
0.040 |
None |
1.000 |
4 |
|
1994 |
2001 |
Mental Retardation, X-Linked 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
45
|
29
|
0.030 |
None |
1.000 |
3 |
|
2000 |
2001 |
Premature Menopause
|
disease |
Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
299
|
90
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2017 |
Ovarian Failure, Premature
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
|
Disease or Syndrome
|
333
|
115
|
0.020 |
None |
1.000 |
2 |
|
1999 |
2017 |
Amyotrophic Lateral Sclerosis
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1114
|
485
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Mucopolysaccharidosis II
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases
|
Disease or Syndrome
|
26
|
69
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Parkinson Disease
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
2078
|
990
|
0.010 |
None |
1.000 |
1 |
|
2011 |
2011 |
Coffin-Lowry syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
23
|
25
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
CHARGE Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
49
|
205
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
Frontotemporal dementia
|
disease |
Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
320
|
215
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
developmentally delayed
|
phenotype |
|
Disease or Syndrome
|
11
|
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Mental Retardation, X-Linked 19
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
7
|
9
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Fetal Growth Retardation
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
|
Disease or Syndrome
|
1037
|
21
|
0.100 |
None |
|
0 |
|
|
|
FRAXA Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
8
|
1
|
0.300 |
None |
|
0 |
|
|
|
Short stature
|
phenotype |
|
Finding
|
1127
|
292
|
0.100 |
None |
|
0 |
|
|
|
Delayed speech and language development
|
phenotype |
Behavior and Behavior Mechanisms
|
Finding
|
560
|
192
|
0.100 |
None |
|
0 |
|
|
|
Thick vermilion border
|
phenotype |
|
Finding
|
95
|
15
|
0.100 |
None |
|
0 |
|
|
|