Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
6
|
20
|
1.000 |
None |
0.984 |
25 |
20
|
1978 |
2020 |
Irido-corneo-trabecular dysgenesis (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
7
|
|
1.000 |
strong |
0.938 |
3 |
|
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
|
3
|
11
|
0.800 |
limited |
0.933 |
1 |
2
|
1988 |
2017 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
9
|
12
|
0.750 |
None |
0.875 |
3 |
3
|
1988 |
2020 |
Coloboma of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
5
|
13
|
0.710 |
None |
1.000 |
5 |
4
|
1988 |
2019 |
Keratitis, hereditary
|
disease |
Eye Diseases
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
4 |
2
|
1988 |
2006 |
Optic Nerve Hypoplasia, Bilateral
|
disease |
Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
1
|
4
|
0.700 |
None |
1.000 |
4 |
4
|
1988 |
2006 |
ANTERIOR SEGMENT DYSGENESIS 5
|
disease |
|
Disease or Syndrome
|
4
|
32
|
0.600 |
None |
1.000 |
6 |
26
|
1988 |
2018 |
FOVEAL HYPOPLASIA 1
|
disease |
|
Disease or Syndrome
|
1
|
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
|
2
|
13
|
0.530 |
None |
0.857 |
4 |
|
1988 |
2016 |
Autistic Disorder
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
261
|
181
|
0.530 |
None |
1.000 |
1 |
|
2008 |
2014 |
Intellectual Disability
|
group |
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
Mental or Behavioral Dysfunction
|
447
|
6
|
0.500 |
None |
1.000 |
1 |
|
1989 |
2019 |
Cataract
|
disease |
Eye Diseases
|
Acquired Abnormality
|
37
|
13
|
0.460 |
None |
1.000 |
1 |
|
2000 |
2018 |
Hypoplasia of the optic nerve
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
2
|
13
|
0.400 |
None |
1.000 |
1 |
|
2003 |
2003 |
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
1
|
4
|
0.400 |
strong |
|
0 |
|
|
|
Diabetes Mellitus
|
group |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
32
|
118
|
0.380 |
strong |
1.000 |
0 |
|
2002 |
2019 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
212
|
|
0.380 |
None |
1.000 |
0 |
|
1999 |
2017 |
Diabetes
|
disease |
Endocrine System Diseases
|
Disease or Syndrome
|
3
|
104
|
0.350 |
strong |
1.000 |
0 |
|
2002 |
2019 |
Schizophrenia
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
883
|
1629
|
0.330 |
None |
1.000 |
1 |
|
1999 |
2020 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
300
|
14
|
0.330 |
None |
1.000 |
1 |
|
2006 |
2019 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
4
|
2
|
0.320 |
strong |
1.000 |
1 |
|
1995 |
2015 |
Congenital coloboma of iris
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
5
|
|
0.310 |
None |
1.000 |
2 |
|
2003 |
2012 |
Malignant neoplasm of prostate
|
disease |
Neoplasms; Male Urogenital Diseases
|
Neoplastic Process
|
616
|
281
|
0.310 |
None |
1.000 |
1 |
|
2010 |
2018 |
Diabetes Mellitus, Non-Insulin-Dependent
|
disease |
Nutritional and Metabolic Diseases; Endocrine System Diseases
|
Disease or Syndrome
|
221
|
1232
|
0.310 |
None |
1.000 |
1 |
|
2005 |
2014 |