Abnormality of retinal pigmentation
|
phenotype |
|
Finding
|
215
|
5
|
0.100 |
None |
|
0 |
|
|
|
Adolescent idiopathic scoliosis
|
disease |
Musculoskeletal Diseases
|
Anatomical Abnormality
|
656
|
1178
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Atrophoderma maculatum
|
disease |
Skin and Connective Tissue Diseases
|
Disease or Syndrome
|
39
|
2
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Autism Spectrum Disorders
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1071
|
331
|
0.010 |
None |
1.000 |
1 |
|
2019 |
2019 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.310 |
None |
1.000 |
2 |
1
|
2015 |
2015 |
Autosomal recessive retinitis pigmentosa
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
82
|
31
|
0.010 |
None |
1.000 |
1 |
|
2005 |
2005 |
Bipolar Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1183
|
839
|
0.400 |
None |
1.000 |
1 |
1
|
2019 |
2019 |
Carcinogenesis
|
phenotype |
Pathological Conditions, Signs and Symptoms; Neoplasms
|
Neoplastic Process
|
6243
|
355
|
0.010 |
None |
1.000 |
1 |
|
2013 |
2013 |
CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
6
|
|
0.010 |
None |
1.000 |
1 |
|
2000 |
2000 |
Chronic multifocal osteomyelitis
|
disease |
Infections; Musculoskeletal Diseases
|
Disease or Syndrome
|
34
|
1
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Color vision defect
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
94
|
4
|
0.100 |
None |
|
0 |
|
|
|
Cone-Rod Dystrophies
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
86
|
53
|
0.140 |
None |
1.000 |
4 |
1
|
2003 |
2008 |
Cone-Rod Dystrophy 2
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
254
|
51
|
0.340 |
None |
1.000 |
4 |
1
|
2003 |
2008 |
Cone-Rod Dystrophy 7
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
6
|
2
|
0.740 |
limited |
1.000 |
5 |
2
|
2000 |
2017 |
Depression, Bipolar
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
116
|
2
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
1.000 |
1 |
|
2017 |
2017 |
Glaucoma
|
disease |
Eye Diseases
|
Disease or Syndrome
|
770
|
198
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
Macular dystrophy, concentric annular
|
phenotype |
Eye Diseases
|
Finding
|
6
|
5
|
0.100 |
None |
|
0 |
|
|
|
Macular Edema, Cystoid
|
disease |
Eye Diseases
|
Disease or Syndrome
|
49
|
3
|
0.010 |
None |
1.000 |
1 |
|
2017 |
2017 |
CUI: |
C0338831 |
Disease: |
Manic
|
Manic
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
166
|
8
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Manic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
76
|
|
0.300 |
None |
1.000 |
1 |
|
2019 |
2019 |
Neoplasms
|
group |
Neoplasms
|
Neoplastic Process
|
10161
|
1644
|
0.030 |
None |
1.000 |
3 |
|
2008 |
2017 |
Neurodevelopmental Disorders
|
group |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
535
|
14
|
0.300 |
None |
1.000 |
1 |
|
2017 |
2017 |
Nyctalopia
|
disease |
Eye Diseases
|
Disease or Syndrome
|
168
|
18
|
0.100 |
None |
|
0 |
|
|
|
Photophobia
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Sign or Symptom
|
227
|
7
|
0.100 |
None |
|
0 |
|
|
|