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 |
Coloboma of choroid and retina
|
disease |
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2006 |
Foveal hypoplasia (finding)
|
phenotype |
|
Finding
|
1
|
4
|
0.400 |
strong |
|
0 |
|
|
|
Aniridia
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
6
|
20
|
1.000 |
None |
0.984 |
25 |
20
|
1978 |
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 |
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 |
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 |
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 |
Coloboma of lens
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
4
|
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2006 |
Coloboma of eyelid
|
phenotype |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2006 |
Hereditary macular coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
5
|
|
0.300 |
None |
1.000 |
2 |
|
2003 |
2006 |
Anophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
4
|
2
|
0.320 |
strong |
1.000 |
1 |
|
1995 |
2015 |
Axenfeld-Rieger Syndrome, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
4
|
15
|
0.300 |
None |
1.000 |
1 |
|
2003 |
2003 |
Uveoretinal Coloboma
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
7
|
|
0.300 |
None |
|
0 |
|
|
|
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 |
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 |
Craniofacial Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
156
|
|
0.300 |
None |
1.000 |
3 |
|
1995 |
1997 |
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 |
Cranioschisis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
10
|
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Congenital neurologic anomalies
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases
|
Congenital Abnormality
|
10
|
3
|
0.300 |
None |
1.000 |
1 |
|
2009 |
2009 |
Tooth Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Anatomical Abnormality
|
10
|
2
|
0.300 |
None |
1.000 |
2 |
|
1995 |
1997 |
Odontome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases
|
Congenital Abnormality
|
10
|
|
0.300 |
None |
1.000 |
2 |
|
1995 |
1997 |
Malignant neoplasm of stomach
|
disease |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
300
|
14
|
0.330 |
None |
1.000 |
1 |
|
2006 |
2019 |
Stomach Neoplasms
|
group |
Digestive System Diseases; Neoplasms
|
Neoplastic Process
|
297
|
47
|
0.300 |
None |
1.000 |
1 |
|
2006 |
2006 |