Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) ×
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: C1842687
Disease: PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder)
PONTOCEREBELLAR HYPOPLASIA TYPE 3 (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 2 1 0.700 limited 1.000 1 1 2015 2015