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deafness-epiphyseal dysplasia-short stature syndrome

Disease Summary
Associated Targets ()

Mondo Description This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
Mondo Term and Equivalent IDs
MONDO:0011047:  deafness-epiphyseal dysplasia-short stature syndrome
GARD:0001688: 
MESH:C535928: 
Orphanet:3218: 
SCTID:716238003: 
UMLS:C1832438: