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: C2936904
Disease: Opitz GBBB Syndrome, X-Linked
Opitz GBBB Syndrome, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 22 3 0.900 definitive 1.000 27 2 1997 2017
Congenital cleft larynx and Opitz-Frias syndrome
disease Disease or Syndrome 1 8 0.400 definitive 9 8 2000 2015
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 0.310 strong 1.000 1 2014 2014
CUI: C1801950
Disease: Opitz-G syndrome, type 2
Opitz-G syndrome, type 2
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Musculoskeletal Diseases Disease or Syndrome 13 2 0.300 1.000 17 1998 2018
Esophageal atresia with or without tracheoesophageal fistula
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 27 8 0.300 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 221 8 0.200 0
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias
disease Congenital Abnormality 179 17 0.140 1.000 4 2004 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1101 21 0.110 1.000 1 2008 2008
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.110 1.000 1 2005 2005
CUI: C1864897
Disease: Cognitive delay
Cognitive delay
phenotype Finding 965 0.100 0
CUI: C0423113
Disease: Telecanthus
Telecanthus
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 95 0.100 0
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion
phenotype Finding 124 4 0.100 0
CUI: C1839764
Disease: Broad flat nasal bridge
Broad flat nasal bridge
phenotype Finding 329 0.100 0
CUI: C1853486
Disease: Widow's peak
Widow's peak
disease Finding 6 0.100 0
CUI: C1837260
Disease: Prominent forehead
Prominent forehead
phenotype Finding 104 0.100 0
CUI: C1611184
Disease: Calcification of coronary artery
Calcification of coronary artery
phenotype Pathologic Function 374 3393 0.100 1 1 2012 2012
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 282 4 0.100 0
CUI: C1142533
Disease: Smooth philtrum
Smooth philtrum
phenotype Finding 63 0.100 0
CUI: C0848558
Disease: Hypospadias
Hypospadias
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality 194 35 0.100 0
CUI: C0700198
Disease: Pulmonary aspiration
Pulmonary aspiration
phenotype Pathologic Function 8 0.100 0
CUI: C1848389
Disease: Posterior pharyngeal cleft
Posterior pharyngeal cleft
phenotype Finding 1 0.100 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
phenotype Finding 332 4 0.100 0
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
disease Congenital Abnormality 279 6 0.100 0
CUI: C0221354
Disease: Frontal bossing
Frontal bossing
disease Congenital Abnormality 215 0.100 0
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 63 1 0.100 0