| umls-concept:C0553586 | skos:definition | JABL: A rare syndrome originally described as comprising pulmonary valvular stenosis, cafe-au-lait spots, dull intelligence, and short stature. The phenotype has been later expanded to include macrocephaly and Lisch nodules in the majority of cases, and neurofibromatosis in one-third of the affected persons. Later studies indicate that the characteristics of this condition overlap those of neurofibromatosis and the Noonan syndrome (the neurofibromatosis-Noonan syndrome).,MSH: A syndrome characterized by the presence of PULMONARY STENOSIS; CAFE-AU-LAIT SPOTS; MENTAL RETARDATION; and short stature caused by mutations in the NF1 gene (GENES, NEUROFIBROMATOSIS 1). | lld:umls |
