Abnormal enzyme/coenzyme activity
|
phenotype |
|
Finding
|
13
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the knee
|
disease |
|
Anatomical Abnormality
|
10
|
|
0.100 |
None |
|
0 |
|
|
|
Absent reflex
|
phenotype |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Finding
|
201
|
16
|
0.100 |
None |
|
0 |
|
|
|
Acute Cholecystitis
|
disease |
Digestive System Diseases
|
Disease or Syndrome
|
21
|
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Alport Syndrome, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
2
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Alport Syndrome, X-Linked
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
13
|
8
|
0.010 |
None |
1.000 |
1 |
|
2018 |
2018 |
Attention deficit hyperactivity disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
842
|
420
|
0.010 |
None |
1.000 |
1 |
|
2012 |
2012 |
Autosomal dominant tubulointerstitial kidney disease
|
disease |
|
Disease or Syndrome
|
13
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Axial muscle weakness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases
|
Finding
|
28
|
|
0.100 |
None |
|
0 |
|
|
|
Bilateral ptosis
|
phenotype |
Eye Diseases
|
Finding
|
50
|
14
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|
Brain Neoplasms
|
group |
Neoplasms; Nervous System Diseases
|
Neoplastic Process
|
1018
|
204
|
0.010 |
None |
1.000 |
1 |
|
2006 |
2006 |
Byzanthine arch palate
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases
|
Congenital Abnormality
|
497
|
70
|
0.100 |
None |
|
0 |
|
|
|
Cervical high grade squamous intraepithelial lesion
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
42
|
|
0.020 |
None |
< 0.001 |
2 |
|
2009 |
2010 |
Cervical Intraepithelial Neoplasia
|
disease |
Neoplasms
|
Neoplastic Process
|
398
|
29
|
0.030 |
None |
0.667 |
3 |
|
2009 |
2013 |
Cervical Squamous Intraepithelial Neoplasia
|
disease |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
Neoplastic Process
|
109
|
3
|
0.030 |
None |
0.667 |
3 |
|
2009 |
2013 |
Chronic kidney disease stage 5
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
666
|
194
|
0.100 |
None |
|
0 |
|
|
|
Class III malocclusion
|
disease |
Stomatognathic Diseases
|
Congenital Abnormality
|
181
|
19
|
0.100 |
None |
|
0 |
|
|
|
Cognition Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
607
|
47
|
0.300 |
None |
1.000 |
1 |
|
2018 |
2018 |
Congenital Abnormality
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
1098
|
73
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital clubfoot
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
285
|
44
|
0.100 |
None |
|
0 |
|
|
|
Decreased size of nerve terminals
|
disease |
|
Anatomical Abnormality
|
15
|
|
0.100 |
None |
|
0 |
|
|
|
Deglutition Disorders
|
group |
Digestive System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
389
|
50
|
0.100 |
None |
|
0 |
|
|
|
Diabetic Nephropathy
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
1189
|
238
|
0.210 |
None |
1.000 |
2 |
|
2010 |
2012 |
Difficulty chewing
|
phenotype |
|
Finding
|
14
|
|
0.100 |
None |
|
0 |
|
|
|