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: C4023905
Disease: Abnormality of the 5th toe
Abnormality of the 5th toe 		phenotype Anatomical Abnormality 1 0.100 None 0
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 488 90 0.300 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: C4023721
Disease: Abnormal hair pattern
Abnormal hair pattern 		disease Anatomical Abnormality 15 1 0.100 None 0
CUI: C0003119
Disease: Anophthalmos
Anophthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 89 6 0.100 None 0
CUI: C4022992
Disease: Abnormal respiratory system morphology
Abnormal respiratory system morphology 		phenotype Anatomical Abnormality 1 0.100 None 0
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: 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: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2 		disease Congenital Abnormality 1 2 0.600 limited 1.000 2 2 2001 2011
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: 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: 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: C0266294
Disease: Unilateral agenesis of kidney
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
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: C4303547
Disease: BNAR syndrome
BNAR syndrome 		disease Disease or Syndrome 3 0.030 None 0.667 3 2011 2013
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
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
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 52 7 0.700 limited 1.000 1 2011 2011
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality 112 6 0.010 None 1.000 1 2011 2011
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: C1619700
Disease: RENAL ADYSPLASIA
RENAL ADYSPLASIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 29 6 0.010 None 1.000 1 2011 2011
CUI: C0542519
Disease: Congenital absence of kidney
Congenital absence of kidney 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 33 3 0.010 None 1.000 1 2011 2011
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: C2363741
Disease: HIV-1 infection
HIV-1 infection 		disease Disease or Syndrome 695 94 0.010 None 1.000 1 2012 2012