MICROPHTHALMIA, ISOLATED 7
|
disease |
|
Disease or Syndrome
|
1
|
2
|
0.700 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6
|
disease |
|
Disease or Syndrome
|
2
|
3
|
0.700 |
None |
1.000 |
1 |
2
|
2010 |
2010 |
Klippel-Feil Syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
12
|
5
|
0.630 |
None |
1.000 |
3 |
|
2010 |
2015 |
KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
|
disease |
|
Disease or Syndrome
|
1
|
1
|
0.600 |
None |
1.000 |
1 |
1
|
2010 |
2010 |
Germ cell tumor
|
disease |
Neoplasms
|
Neoplastic Process
|
278
|
5
|
0.320 |
None |
1.000 |
3 |
|
2004 |
2009 |
Neoplasms, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
MICROPHTHALMIA, ISOLATED 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Microphthalmia associated with colobomatous cyst
|
phenotype |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Cancer, Embryonal and Mixed
|
disease |
Neoplasms
|
Neoplastic Process
|
15
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Cancer, Embryonal
|
phenotype |
Neoplasms
|
Neoplastic Process
|
18
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Germ Cell Cancer
|
disease |
Neoplasms
|
Neoplastic Process
|
44
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Neoplasms, Germ Cell and Embryonal
|
group |
Neoplasms
|
Neoplastic Process
|
34
|
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Embryonal Neoplasm
|
disease |
Neoplasms
|
Neoplastic Process
|
57
|
2
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Microphthalmos, Autosomal Recessive
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
8
|
|
0.300 |
None |
1.000 |
1 |
|
2010 |
2010 |
Congenital ocular coloboma (disorder)
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
129
|
21
|
0.110 |
None |
1.000 |
1 |
|
2014 |
2014 |
Abnormality of the cranial nerves
|
disease |
|
Anatomical Abnormality
|
17
|
2
|
0.100 |
None |
|
0 |
|
|
|
Bilateral microphthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
35
|
11
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the ribs
|
disease |
|
Anatomical Abnormality
|
69
|
5
|
0.100 |
None |
|
0 |
|
|
|
Facial asymmetry
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Finding
|
109
|
13
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of optic disc
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases
|
Congenital Abnormality
|
31
|
|
0.100 |
None |
|
0 |
|
|
|
Cervical C5/C6 vertebrae fusion
|
disease |
|
Anatomical Abnormality
|
2
|
|
0.100 |
None |
|
0 |
|
|
|
Abnormality of the shoulder
|
disease |
|
Anatomical Abnormality
|
8
|
|
0.100 |
None |
|
0 |
|
|
|
Low posterior hairline
|
phenotype |
|
Finding
|
86
|
11
|
0.100 |
None |
|
0 |
|
|
|
Renal hypoplasia/aplasia
|
phenotype |
|
Finding
|
73
|
2
|
0.100 |
None |
|
0 |
|
|
|
Abnormal sacrum morphology
|
disease |
|
Anatomical Abnormality
|
17
|
|
0.100 |
None |
|
0 |
|
|
|