Source:http://linkedlifedata.com/resource/umls/id/C1855305
JABL: A syndrome of bone dysplasia, craniofacial abnormalities, congenital glaucoma, hypertelorism, congenital heart defect, kyphoscoliosis, skeletal dysplasia, and developmental delay. Originally considered a form of the Melnick-Needles syndrome, ter Haar syndrome is now recognized a separate entity which, in addition to the Melnick-Needles phenotype, includes congenital heart defect and glaucoma.