47XYY snydomeABCC8 SUR1Amelogenesis imperfecta and nephrocalcinosis enamel renal syndromeAnemia (megaloblastic thiamine responsive)Arthrogryposis multiplex congenitaBarakat s syndromeBarraquer Simons syndromeBererdinelli Seip congenital lipodystrophyBSCL1 AGPAT2BSCL2 SeipinCardio vertebro renal syndromeCarnitine deficiency myopathyCateye syndromeCerebro oculo facio skeletal syndromeColoboma of macula with type b brachydactylyCTNSDeletion 11p syndromeDeletion 18q syndromeDeletion 9p syndrome
Diabetes mellitus (Hereditary MODY)Diabetes mellitus (hereditary)Diabetes mellitus (neonatal)Donohue s syndrome LeprechaunismDubowitz syndromeDuplication 10q syndromeDuplication 20p syndromeDuplication 4p syndromeDyssegmental dwarfismEIF2AK3 PERKFacio cardio renal syndromeFatty metamorphosis of the visceraFemoral facial syndromeFRDA1 FrataxinFriedreich ataxiaGanglioside GM1 beta GalactosidaseGangliosidosis GM1 Landing s diseaseGlucokinaseGLUD1
Goltz focal dermal hypoplasiaHereditary osteolysis hereditary of carpal bones with nephropathyInsulin resistance type aJebert Hayward oro cranio digital syndromeKCNJ11 Kir6 2Lawrence s syndromeLeukonychia totalisLipodystrophyN syndromeNaurnoff s polydactyly with hereditary chondrodystrophy type iiiNeu Laxova syndromeOMIM_601487OMIM_x600937Pena Shokeir syndromePersistent hyperinsulinemic hypoglycemia of infancyPersistent neonatal hypoglycemiaPulmonary stenosis with congenital nephrosisRabson Mendenhall s syndromeReceptor (Insulin)
Receptor (PPAR gamma)SLC19A2 THTR1Testicular regression xy gonadal agenesisThallassemia BThyrotoxicosis renal disease absent frontal sinusesTNDM29locusTrimethadioneTrisomy8Werner s syndromeWfs1 WolframinWfs2Wohltmann Caglar SyndromeWolcott Rallison syndromeWolfram s syndrome DIDMOADWRN
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All Medline data shown were primarily retrieved from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.