Ureterocele
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Acquired Abnormality
|
26
|
1
|
0.100 |
None |
|
0 |
|
|
|
Deformity
|
group |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Anatomical Abnormality
|
350
|
26
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Broad phalanx of the toes
|
phenotype |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|
Diffuse white matter abnormalities
|
disease |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
34
|
4
|
0.100 |
None |
|
0 |
|
|
|
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
< 0.001 |
1 |
|
2001 |
2001 |
Cleft Palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
611
|
158
|
0.100 |
None |
|
0 |
|
|
|
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.100 |
None |
|
0 |
|
|
|
Microcephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases
|
Congenital Abnormality
|
1064
|
27
|
0.100 |
None |
|
0 |
|
|
|
Pachygyria
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
129
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of corpus callosum
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
385
|
49
|
0.100 |
None |
|
0 |
|
|
|
Congenital exomphalos
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
235
|
|
0.100 |
None |
|
0 |
|
|
|
Penis agenesis
|
disease |
Male Urogenital Diseases
|
Congenital Abnormality
|
217
|
11
|
0.100 |
None |
|
0 |
|
|
|
Renal dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
95
|
3
|
0.100 |
None |
|
0 |
|
|
|
Down Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
766
|
80
|
0.030 |
None |
0.667 |
3 |
|
2000 |
2004 |
Complete Trisomy 21 Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
669
|
77
|
0.030 |
None |
0.667 |
3 |
|
2000 |
2004 |
DOWN SYNDROME CRITICAL REGION
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Disease or Syndrome
|
57
|
|
0.020 |
None |
0.500 |
2 |
|
2000 |
2001 |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 55
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.600 |
moderate |
1.000 |
2 |
2
|
2017 |
2019 |
Visual Cortex Disorder
|
disease |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
7
|
|
0.300 |
moderate |
1.000 |
1 |
|
2019 |
2019 |
Early infantile epileptic encephalopathy with suppression bursts
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
81
|
10
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
X-linked infantile spasms
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
53
|
122
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.100 |
None |
|
0 |
|
|
|
Dyskinetic syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
316
|
42
|
0.100 |
None |
|
0 |
|
|
|
Failure to Thrive
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
842
|
10
|
0.100 |
None |
|
0 |
|
|
|
Precocious Puberty
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
139
|
20
|
0.100 |
None |
|
0 |
|
|
|
West Syndrome
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
149
|
28
|
0.100 |
None |
|
0 |
|
|
|