Cryptophthalmos syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
8
|
5
|
0.900 |
strong |
0.929 |
14 |
2
|
2005 |
2018 |
FRASER SYNDROME 2
|
disease |
|
Disease or Syndrome
|
1
|
6
|
0.800 |
strong |
1.000 |
4 |
6
|
2005 |
2019 |
Cryptophthalmos, Unilateral or Bilateral, Isolated
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Disease or Syndrome
|
1
|
4
|
0.600 |
None |
1.000 |
2 |
4
|
2018 |
2019 |
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
69
|
7
|
0.400 |
None |
1.000 |
2 |
1
|
2012 |
2014 |
FRASER SYNDROME 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Eye Diseases; Musculoskeletal Diseases; Male Urogenital Diseases
|
Disease or Syndrome
|
3
|
12
|
0.300 |
None |
1.000 |
2 |
|
2005 |
2008 |
Congenital small ears
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
137
|
13
|
0.300 |
strong |
1.000 |
1 |
|
2005 |
2005 |
Marles Greenberg Persaud syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
3
|
0.300 |
strong |
1.000 |
1 |
|
2005 |
2005 |
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
None |
1.000 |
1 |
|
2005 |
2005 |
Polydactyly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
188
|
43
|
0.300 |
strong |
1.000 |
1 |
|
2005 |
2005 |
Congenital absence of kidneys syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
110
|
|
0.110 |
None |
1.000 |
1 |
|
2011 |
2011 |
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.110 |
None |
1.000 |
1 |
3
|
2018 |
2018 |
Cryptophthalmos
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
5
|
1
|
0.110 |
None |
1.000 |
1 |
1
|
2011 |
2011 |
Schizophrenia, Childhood
|
disease |
Mental Disorders
|
Mental or Behavioral Dysfunction
|
33
|
20
|
0.100 |
None |
1.000 |
1 |
1
|
2016 |
2016 |
Hair Color
|
phenotype |
|
Organism Attribute
|
130
|
312
|
0.100 |
None |
1.000 |
1 |
1
|
2018 |
2018 |
Narcolepsy
|
disease |
Nervous System Diseases; Mental Disorders
|
Disease or Syndrome
|
308
|
454
|
0.100 |
None |
1.000 |
1 |
1
|
2009 |
2009 |
Wide spaced nipples
|
phenotype |
|
Finding
|
96
|
19
|
0.100 |
None |
|
0 |
|
|
|
Urethral atresia
|
disease |
|
Congenital Abnormality
|
23
|
1
|
0.100 |
None |
|
0 |
|
|
|
Depressed nasal bridge
|
phenotype |
|
Finding
|
426
|
39
|
0.100 |
None |
|
0 |
|
|
|
Underdeveloped nasal alae
|
phenotype |
|
Congenital Abnormality
|
79
|
8
|
0.100 |
None |
|
0 |
|
|
|
Atresia of vagina
|
disease |
|
Congenital Abnormality
|
16
|
|
0.100 |
None |
|
0 |
|
|
|
Ankyloblepharon
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Anatomical Abnormality
|
18
|
|
0.100 |
None |
|
0 |
|
|
|
Short thorax
|
phenotype |
|
Finding
|
51
|
8
|
0.100 |
None |
|
0 |
|
|
|
Hypoplasia of scrotum
|
phenotype |
|
Congenital Abnormality
|
57
|
3
|
0.100 |
None |
|
0 |
|
|
|
Defect of vertebral segmentation
|
disease |
Musculoskeletal Diseases
|
Congenital Abnormality
|
40
|
6
|
0.100 |
None |
|
0 |
|
|
|
Blindness
|
phenotype |
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases
|
Disease or Syndrome
|
393
|
34
|
0.100 |
None |
|
0 |
|
|
|