Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.310 |
limited |
1.000 |
1 |
|
2014 |
2014 |
Ellis-Van Creveld Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
11
|
121
|
0.960 |
definitive |
1.000 |
16 |
60
|
2000 |
2018 |
Weyers acrofacial dysostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases
|
Disease or Syndrome
|
4
|
21
|
0.720 |
None |
1.000 |
7 |
9
|
2000 |
2018 |
Cleft Lip with or without Cleft Palate
|
disease |
|
Congenital Abnormality
|
99
|
50
|
0.010 |
None |
1.000 |
1 |
|
2010 |
2010 |
Wolfram Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
28
|
7
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Congenital heart disease
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
267
|
80
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
MAJOR AFFECTIVE DISORDER 6
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
MAJOR AFFECTIVE DISORDER 4
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
160
|
34
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Limb Deformities, Congenital
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
59
|
4
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
MAJOR AFFECTIVE DISORDER 1
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
161
|
34
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Serum HDL cholesterol measurement
|
phenotype |
|
Laboratory Procedure
|
283
|
679
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
MAJOR AFFECTIVE DISORDER 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders
|
Mental or Behavioral Dysfunction
|
185
|
34
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
High density lipoprotein measurement
|
phenotype |
|
Laboratory Procedure
|
545
|
1440
|
0.100 |
None |
1.000 |
1 |
1
|
2012 |
2012 |
ATRIOVENTRICULAR CANAL DEFECT
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Anatomical Abnormality
|
55
|
14
|
0.110 |
None |
1.000 |
1 |
|
2009 |
2009 |
Ventricular Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
426
|
87
|
0.110 |
None |
1.000 |
1 |
2
|
2018 |
2018 |
Atrial Septal Defects
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
384
|
96
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Achondroplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
46
|
21
|
0.010 |
None |
1.000 |
1 |
|
1996 |
1996 |
Dysostoses
|
disease |
Musculoskeletal Diseases
|
Disease or Syndrome
|
16
|
1
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.010 |
None |
1.000 |
1 |
|
2015 |
2015 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
3134
|
2672
|
0.010 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
None |
|
0 |
|
|
|
Abnormality of female internal genitalia
|
disease |
|
Anatomical Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
20
|
3
|
0.100 |
None |
|
0 |
|
|
|
Short palm
|
phenotype |
|
Finding
|
110
|
13
|
0.100 |
None |
|
0 |
|
|
|
Prominent antihelix
|
phenotype |
|
Finding
|
6
|
|
0.100 |
None |
|
0 |
|
|
|