Disease: Rhizomelic chondrodysplasia punctata, type 2 ×
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: C1857242
Disease: Rhizomelic chondrodysplasia punctata, type 2
Rhizomelic chondrodysplasia punctata, type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 1 3 0.920 strong 1.000 9 3 1992 2017