Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2750433
Disease: Bifid Nose With Or Without Anorectal And Renal Anomalies
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
CUI: C0265425
Disease: 9p partial monosomy syndrome
9p partial monosomy syndrome 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 1 0.200 None 1.000 3 2004 2011
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2 		disease Congenital Abnormality 1 2 0.600 limited 1.000 2 2 2001 2011
CUI: C2751431
Disease: Bifid Nose, Autosomal Dominant
Bifid Nose, Autosomal Dominant 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C3887497
Disease: Bifid Nose, Autosomal Recessive
Bifid Nose, Autosomal Recessive 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 1 0.300 None 1.000 1 2013 2013
CUI: C4022992
Disease: Abnormal respiratory system morphology
Abnormal respiratory system morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C4023905
Disease: Abnormality of the 5th toe
Abnormality of the 5th toe 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0478099
Disease: Other deletions of part of a chromosome
Other deletions of part of a chromosome 		disease Congenital Abnormality 2 0.200 None 1.000 3 2004 2011
CUI: C1855425
Disease: Marles Greenberg Persaud syndrome
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
CUI: C4303547
Disease: BNAR syndrome
BNAR syndrome 		disease Disease or Syndrome 3 0.030 None 0.667 3 2011 2013
CUI: C0242473
Disease: Anus Prolapse
Anus Prolapse 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality 3 0.010 None 1.000 1 2011 2011
CUI: C0795830
Disease: CHROMOSOME 9p DELETION SYNDROME
CHROMOSOME 9p DELETION SYNDROME 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 5 0.200 None 1.000 3 2004 2011
CUI: C0311249
Disease: Cryptophthalmos
Cryptophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 5 1 0.100 None 0
CUI: C0426501
Disease: Short frenulum of tongue
Short frenulum of tongue 		phenotype Finding 6 1 0.100 None 0
CUI: C1863872
Disease: Coloboma of superior eyelid
Coloboma of superior eyelid 		phenotype Disease or Syndrome 6 0.100 None 0
CUI: C0432122
Disease: Interfrontal craniofaciosynostosis
Interfrontal craniofaciosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 7 2 0.010 None 1.000 1 2011 2011
CUI: C0265233
Disease: Cryptophthalmos syndrome
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
CUI: C0221363
Disease: Bifid nose
Bifid nose 		disease Respiratory Tract Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 9 0.620 limited 1.000 3 2011 2013
CUI: C0426428
Disease: Bifid nasal tip
Bifid nasal tip 		phenotype Finding 10 0.100 None 0
CUI: C1281931
Disease: Obstruction of nasolacrimal duct
Obstruction of nasolacrimal duct 		phenotype Finding 12 2 0.100 None 0
CUI: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		disease Anatomical Abnormality 15 1 0.100 None 0
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 16 0.300 None 0
CUI: C0034895
Disease: Rectovaginal Fistula
Rectovaginal Fistula 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Female Urogenital Diseases and Pregnancy Complications Anatomical Abnormality 17 0.100 None 0
CUI: C4551902
Disease: Craniosynostosis, Type 1
Craniosynostosis, Type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 18 28 0.300 None 0
CUI: C0265699
Disease: Congenital hernia of foramen of Morgagni
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