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: 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 1 2 0.750 0.800 7 2 2007 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 3 2 0.730 0.667 4 2 2009 2013
CUI: C0265535
Disease: Trigonocephaly
Trigonocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 33 0.600 0
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 213 37 0.500 strong 0
CUI: C0221363
Disease: Bifid nose
Bifid nose
phenotype Otorhinolaryngologic Diseases; Respiratory Tract Diseases Anatomical Abnormality 4 0.420 1.000 3 2011 2013
CUI: C1860819
Disease: Metopic synostosis
Metopic synostosis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 0.400 0
CUI: C3280974
Disease: TRIGONOCEPHALY 2
TRIGONOCEPHALY 2
disease Congenital Abnormality 1 2 0.400 1 2 2012 2012
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 15 0.310 1.000 2 2011 2013
CUI: C1968949
Disease: Cakut
Cakut
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 70 3 0.310 strong 1.000 1 2014 2014
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Disease or Syndrome 94 10 0.310 1.000 2 2013 2016
CUI: C0265534
Disease: Scaphycephaly
Scaphycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 35 6 0.300 0
Congenital hernia of foramen of Morgagni
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Congenital Abnormality 17 0.300 2 2013 2016
Congenital hernia of foramen of Bochdalek
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathological Conditions, Signs and Symptoms Congenital Abnormality 17 0.300 2 2013 2016
CUI: C0221356
Disease: Brachycephaly
Brachycephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 129 1 0.300 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 24 0.300 0
CUI: C0266294
Disease: Unilateral agenesis of kidney
Unilateral agenesis of kidney
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Pathological Conditions, Signs and Symptoms Congenital Abnormality 40 2 0.300 0
CUI: C1833340
Disease: Synostotic Posterior Plagiocephaly
Synostotic Posterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 23 7 0.300 0
CUI: C2751431
Disease: Bifid Nose, Autosomal Dominant
Bifid Nose, Autosomal Dominant
disease Otorhinolaryngologic Diseases; Respiratory Tract Diseases Disease or Syndrome 1 0.300 1 2013 2013
CUI: C2931150
Disease: Synostotic Anterior Plagiocephaly
Synostotic Anterior Plagiocephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality; Disease or Syndrome 16 0.300 0
CUI: C3887497
Disease: Bifid Nose, Autosomal Recessive
Bifid Nose, Autosomal Recessive
disease Otorhinolaryngologic Diseases; Respiratory Tract Diseases Congenital Abnormality 1 0.300 1 2013 2013
CUI: C0015393
Disease: Eye Abnormalities
Eye Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 41 2 0.300 1 2013 2013
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.300 limited 2 2001 2007
CUI: C0265233
Disease: Cryptophthalmos syndrome
Cryptophthalmos syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases Disease or Syndrome 7 17 0.230 1.000 7 1981 2013
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.210 1.000 2 2013 2013
Congenital malformation syndromes affecting facial appearance
disease Congenital Abnormality 6 0.200 5 1981 2012