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.
ECTOPIA LENTIS 2, ISOLATED, AUTOSOMAL RECESSIVE
disease Disease or Syndrome 2 6 0.100 None 1.000 6 6 2010 2015
CUI: C0013581
Disease: Ectopia Lentis
Ectopia Lentis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 34 17 0.100 None 1.000 4 3 2010 2017
Ectopia Lentis with Ectopia of Pupil
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 3 0.100 None 0 3