Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
83
|
29
|
1.000 |
None |
0.984 |
188 |
24
|
1978 |
2020 |
Irido-corneo-trabecular dysgenesis (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
12
|
1.000 |
strong |
0.938 |
16 |
1
|
1983 |
2011 |
WAGR Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
13
|
11
|
0.800 |
limited |
0.933 |
15 |
2
|
1988 |
2017 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.750 |
None |
0.875 |
8 |
3
|
1988 |
2020 |
Coloboma of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
30
|
14
|
0.710 |
None |
1.000 |
6 |
4
|
1988 |
2019 |
Keratitis, hereditary
|
disease |
Eye Diseases
|
Disease or Syndrome
|
2
|
2
|
0.700 |
None |
1.000 |
4 |
2
|
1988 |
2006 |
Optic Nerve Hypoplasia, Bilateral
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
1988 |
2006 |
ANTERIOR SEGMENT DYSGENESIS 5
|
disease |
|
Disease or Syndrome
|
7
|
32
|
0.600 |
None |
1.000 |
38 |
26
|
1988 |
2018 |
FOVEAL HYPOPLASIA 1
|
disease |
|
Disease or Syndrome
|
2
|
4
|
0.600 |
None |
1.000 |
5 |
4
|
1988 |
2006 |
O'Donnell Pappas syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
|
0.600 |
None |
1.000 |
1 |
|
1999 |
1999 |
Gillespie syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Disease or Syndrome
|
4
|
13
|
0.530 |
None |
0.857 |
7 |
|
1988 |
2016 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
1112
|
395
|
0.530 |
None |
1.000 |
5 |
|
2008 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
2165
|
159
|
0.500 |
None |
1.000 |
23 |
|
1989 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
878
|
124
|
0.460 |
None |
1.000 |
6 |
1
|
2000 |
2018 |
Hypoplasia of the optic nerve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
59
|
14
|
0.400 |
None |
1.000 |
1 |
|
2003 |
2003 |
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
25
|
4
|
0.400 |
strong |
|
0 |
|
|
|
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
2803
|
824
|
0.380 |
strong |
1.000 |
8 |
|
2002 |
2019 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.380 |
None |
1.000 |
8 |
|
1999 |
2017 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
2359
|
710
|
0.350 |
strong |
1.000 |
5 |
|
2002 |
2019 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
3806
|
615
|
0.330 |
None |
1.000 |
4 |
|
2006 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
2872
|
2897
|
0.330 |
None |
1.000 |
3 |
|
1999 |
2020 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
89
|
6
|
0.320 |
strong |
1.000 |
3 |
|
1995 |
2015 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
148
|
1
|
0.310 |
None |
1.000 |
3 |
|
2003 |
2012 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
4502
|
1082
|
0.310 |
None |
1.000 |
2 |
|
2010 |
2018 |
Morning glory syndrome
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
3
|
2
|
0.310 |
None |
1.000 |
2 |
|
2003 |
2008 |