Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.190 |
None |
1.000 |
9 |
4
|
2006 |
2018 |
Nephronophthisis
|
disease |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
96
|
103
|
0.160 |
None |
1.000 |
40 |
42
|
2006 |
2018 |
Retinal Dystrophies
|
group |
Eye Diseases
|
Disease or Syndrome
|
219
|
227
|
0.160 |
None |
1.000 |
7 |
6
|
2007 |
2018 |
Retinitis Pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
546
|
541
|
0.150 |
None |
1.000 |
6 |
4
|
2006 |
2019 |
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.110 |
None |
1.000 |
2 |
1
|
2010 |
2019 |
Rod-Cone Dystrophy
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
194
|
33
|
0.110 |
None |
1.000 |
1 |
|
2010 |
2010 |
Renal cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
170
|
17
|
0.110 |
None |
1.000 |
1 |
|
2008 |
2008 |
Congenital blindness
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
16
|
3
|
0.110 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Hydrocephalus
|
disease |
Nervous System Diseases
|
Disease or Syndrome
|
473
|
37
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Kidney Diseases
|
group |
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1180
|
140
|
0.110 |
None |
1.000 |
1 |
|
2017 |
2017 |
Fibrosis, Liver
|
disease |
Pathological Conditions, Signs and Symptoms; Digestive System Diseases
|
Disease or Syndrome
|
1179
|
64
|
0.110 |
None |
1.000 |
1 |
|
2015 |
2015 |
Amaurosis congenita of Leber, type 1
|
disease |
Eye Diseases
|
Disease or Syndrome
|
81
|
60
|
0.100 |
None |
0.947 |
38 |
|
2006 |
2019 |
Influenza due to Influenza A virus subtype H1N1
|
disease |
Infections; Respiratory Tract Diseases
|
Disease or Syndrome
|
44
|
65
|
0.100 |
None |
1.000 |
1 |
1
|
2015 |
2015 |
Cerebellar cyst
|
phenotype |
|
Finding
|
14
|
3
|
0.100 |
None |
|
0 |
2
|
|
|
Biparietal narrowing
|
phenotype |
|
Finding
|
60
|
|
0.100 |
None |
|
0 |
|
|
|
Joubert syndrome 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
26
|
31
|
0.100 |
None |
|
0 |
3
|
|
|
Anteverted nostril
|
phenotype |
|
Finding
|
407
|
35
|
0.100 |
None |
|
0 |
|
|
|
Cerebellar vermis hypoplasia
|
phenotype |
|
Finding
|
100
|
26
|
0.100 |
None |
|
0 |
2
|
|
|
Central hypotonia
|
phenotype |
|
Finding
|
50
|
25
|
0.100 |
None |
|
0 |
2
|
|
|
Situs inversus totalis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
104
|
8
|
0.100 |
None |
|
0 |
|
|
|
Prominent nasal bridge
|
phenotype |
|
Finding
|
180
|
8
|
0.100 |
None |
|
0 |
|
|
|
Sclerocornea
|
disease |
Eye Diseases
|
Disease or Syndrome
|
42
|
3
|
0.100 |
None |
|
0 |
|
|
|
Medial flaring of the eyebrow
|
disease |
|
Finding
|
28
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of cardiovascular system morphology
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases
|
Congenital Abnormality
|
198
|
13
|
0.100 |
None |
|
0 |
|
|
|