| umls-concept:C0265220 | skos:definition | JABL: A syndrome of hypothalamic hamartoblastoma, craniofacial abnormalities, polydactyly, and endocrine, cardiac, renal defects, and mild mental retardation in some cases.,MSH: A pleiotropic disorder of human development that comprises hypothalamic HAMARTOMA; central and postaxial POLYDACTYLY; bifid EPIGLOTTIS; ANAL ATRESIA; and renal and other abnormalities. This disorder is associated with FRAMESHIFT MUTATIONS in the GLI3 gene which encodes the GLI3 protein, a KRUPPEL-LIKE TRANSCRIPTION FACTORS family member.,NCI: A very rare autosomal dominant inherited disorder caused by mutations in the GLI3 gene. It is characterized by a spectrum of abnormalities which include polydactyly, cutaneous syndactyly, bifid epiglottis, hypothalamic hamartoma, and laryngotracheal cleft. | lld:umls |
