Marles Greenberg Persaud syndrome
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases
|
Disease or Syndrome
|
3
|
3
|
0.750 |
None |
0.875 |
8 |
3
|
2001 |
2017 |
Bifid Nose With Or Without Anorectal And Renal Anomalies
|
disease |
Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Disease or Syndrome
|
1
|
2
|
0.720 |
None |
0.800 |
5 |
2
|
2001 |
2014 |
Trigonocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
52
|
7
|
0.700 |
limited |
1.000 |
1 |
|
2011 |
2011 |
Bifid nose
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
9
|
|
0.620 |
limited |
1.000 |
3 |
|
2011 |
2013 |
TRIGONOCEPHALY 2
|
disease |
|
Congenital Abnormality
|
1
|
2
|
0.600 |
limited |
1.000 |
2 |
2
|
2001 |
2011 |
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
|
|
0.410 |
None |
1.000 |
2 |
|
2011 |
2013 |
Metopic synostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
28
|
5
|
0.400 |
None |
|
0 |
|
|
|
Congenital diaphragmatic hernia
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
239
|
31
|
0.320 |
None |
1.000 |
3 |
|
2013 |
2018 |
Congenital hernia of foramen of Morgagni
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
19
|
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2016 |
Congenital hernia of foramen of Bochdalek
|
disease |
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities
|
Congenital Abnormality
|
21
|
|
0.300 |
None |
1.000 |
2 |
|
2013 |
2016 |
Unilateral agenesis of kidney
|
disease |
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
Congenital Abnormality
|
69
|
7
|
0.300 |
None |
1.000 |
2 |
|
2010 |
2014 |
Eye Abnormalities
|
group |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
Congenital Abnormality
|
55
|
3
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Bifid Nose, Autosomal Dominant
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Disease or Syndrome
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Bifid Nose, Autosomal Recessive
|
disease |
Respiratory Tract Diseases; Otorhinolaryngologic Diseases
|
Congenital Abnormality
|
1
|
|
0.300 |
None |
1.000 |
1 |
|
2013 |
2013 |
Scaphycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
43
|
8
|
0.300 |
None |
|
0 |
|
|
|
Synostotic Posterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
25
|
|
0.300 |
None |
|
0 |
|
|
|
Craniosynostosis, Type 1
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
18
|
28
|
0.300 |
None |
|
0 |
|
|
|
Synostotic Anterior Plagiocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
16
|
|
0.300 |
None |
|
0 |
|
|
|
Craniosynostosis
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Disease or Syndrome
|
488
|
90
|
0.300 |
None |
|
0 |
|
|
|
Disorder of eye
|
group |
Eye Diseases
|
Disease or Syndrome
|
400
|
14
|
0.300 |
limited |
|
0 |
|
|
|
Acrocephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
35
|
|
0.300 |
None |
|
0 |
|
|
|
Brachycephaly
|
disease |
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases
|
Congenital Abnormality
|
186
|
20
|
0.300 |
None |
|
0 |
|
|
|
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
|
0.240 |
None |
1.000 |
4 |
|
2011 |
2018 |
Diaphragmatic Hernia
|
phenotype |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
78
|
3
|
0.210 |
None |
1.000 |
3 |
|
2013 |
2016 |
9p partial monosomy syndrome
|
disease |
Pathological Conditions, Signs and Symptoms
|
Disease or Syndrome
|
1
|
|
0.200 |
None |
1.000 |
3 |
|
2004 |
2011 |