Carotid Artery Plaque
|
disease |
Nervous System Diseases; Cardiovascular Diseases
|
Acquired Abnormality
|
41
|
3
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.100 |
None |
|
0 |
|
|
|
polyps
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Anatomical Abnormality
|
390
|
18
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Flatfoot
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Anatomical Abnormality
|
285
|
38
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of dental enamel
|
group |
|
Anatomical Abnormality
|
96
|
4
|
0.100 |
None |
|
0 |
|
|
|
Systolic Pressure
|
phenotype |
|
Clinical Attribute
|
843
|
1931
|
0.100 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
72
|
11
|
0.010 |
None |
1.000 |
1 |
|
2004 |
2004 |
Rhabdomyomatous mesenchymal hamartoma
|
disease |
Neoplasms; Skin and Connective Tissue Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Midline cervical cleft
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
1
|
|
0.010 |
None |
1.000 |
1 |
|
2020 |
2020 |
Microdontia (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
109
|
6
|
0.100 |
None |
|
0 |
|
|
|
Cortical Dysplasia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
118
|
6
|
0.100 |
None |
|
0 |
|
|
|
Congenital sensorineural hearing loss
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
68
|
17
|
0.100 |
None |
|
0 |
|
|
|
Ciliopathies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
241
|
7
|
0.300 |
limited |
|
0 |
|
|
|
Usher syndrome, type 2C
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
4
|
28
|
0.940 |
definitive |
1.000 |
19 |
28
|
1998 |
2018 |
Usher Syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
68
|
74
|
0.200 |
None |
1.000 |
11 |
7
|
2004 |
2019 |
Nonsyndromic Deafness
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
163
|
66
|
0.300 |
disputed |
1.000 |
11 |
|
2013 |
2018 |
Febrile Convulsions
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
192
|
65
|
0.160 |
None |
1.000 |
6 |
|
2000 |
2014 |
Usher syndrome type 2
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
8
|
16
|
0.150 |
None |
1.000 |
5 |
1
|
2005 |
2015 |
Hereditary retinal dystrophy
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
42
|
1
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2007 |
USHER SYNDROME, TYPE IIB, FORMERLY
|
disease |
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2007 |
USHER SYNDROME, TYPE IIC, GPR98/PDZD7 DIGENIC
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
2
|
|
0.200 |
None |
1.000 |
4 |
|
2004 |
2007 |
Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
1215
|
339
|
0.030 |
None |
1.000 |
3 |
|
2001 |
2018 |
FEBRILE CONVULSIONS, FAMILIAL, 4
|
disease |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
Disease or Syndrome
|
2
|
4
|
0.620 |
None |
1.000 |
3 |
4
|
1998 |
2011 |
Myoclonic Epilepsy
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
71
|
9
|
0.020 |
None |
1.000 |
2 |
|
2011 |
2018 |