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: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion
phenotype Cardiovascular Diseases; Nervous System Diseases Acquired Abnormality 134 0.310 1.000 2 2001 2007
CUI: C0156353
Disease: Uterovaginal prolapse
Uterovaginal prolapse
phenotype Acquired Abnormality 1 0.010 1.000 1 2005 2005
CUI: C0339543
Disease: Epiretinal Membrane
Epiretinal Membrane
phenotype Eye Diseases Acquired Abnormality 41 0.010 1.000 1 2007 2007
CUI: C0019284
Disease: Diaphragmatic Hernia
Diaphragmatic Hernia
phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 63 2 0.300 2 1998 2000
CUI: C2748545
Disease: QUESTION MARK EARS, ISOLATED
QUESTION MARK EARS, ISOLATED
phenotype Anatomical Abnormality 1 2 0.410 1.000 2 2 2013 2014
CUI: C0029866
Disease: Other ureteric obstruction
Other ureteric obstruction
phenotype Anatomical Abnormality 41 0.200 1 2003 2003
CUI: C0041956
Disease: Ureteral obstruction
Ureteral obstruction
phenotype Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality 137 0.300 1 2015 2015
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly
phenotype Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 26 1 0.010 1.000 1 1997 1997
CUI: C1857130
Disease: Hypoplastic mandible condyle
Hypoplastic mandible condyle
phenotype Anatomical Abnormality 394 0.100 0
CUI: C3494422
Disease: Retrognathia
Retrognathia
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 118 3 0.100 0
CUI: C4024589
Disease: Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible
phenotype Anatomical Abnormality 396 0.100 0
CUI: C4476523
Disease: Decreased projection of lower jaw
Decreased projection of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476524
Disease: Decreased projection of mandible
Decreased projection of mandible
phenotype Anatomical Abnormality 394 0.100 0
CUI: C4476525
Disease: Retrusion of lower jaw
Retrusion of lower jaw
phenotype Anatomical Abnormality 394 0.100 0
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 186 4 0.300 4 1994 2011
Congenital arteriovenous malformation
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 65 5 0.010 1.000 1 1997 1997
Intracranial Arteriovenous Malformation
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 11 0.010 1.000 1 1997 1997
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 250 16 0.010 1.000 1 1999 1999
CUI: C0018798
Disease: Congenital Heart Defects
Congenital Heart Defects
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 276 31 0.300 1 1998 1998
CUI: C0038505
Disease: Sturge-Weber Syndrome
Sturge-Weber Syndrome
disease Cardiovascular Diseases; Neoplasms; Nervous System Diseases Congenital Abnormality 10 1 0.010 1.000 1 1997 1997
CUI: C0152424
Disease: Common ventricle
Common ventricle
disease Congenital Abnormality 7 0.010 1.000 1 2008 2008
CUI: C0243050
Disease: Cardiovascular Abnormalities
Cardiovascular Abnormalities
group Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 48 2 0.300 1 2011 2011
CUI: C1720771
Disease: Testicular Hydrocele
Testicular Hydrocele
disease Male Urogenital Diseases Congenital Abnormality 13 1 0.010 1.000 1 2011 2011
CUI: C3274516
Disease: Single Ventricle Defect
Single Ventricle Defect
disease Congenital Abnormality 4 0.010 1.000 1 2008 2008
CUI: C0025990
Disease: Micrognathism
Micrognathism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 399 4 0.100 0