[Erythrodermia ichthyosiformis congenita with hypotrichosis, anhidrosis, deaf-mutism and decreased elimination of various amino acids in the urine].
D000505:Alopecia / Q000235:genetics*; D000592:Amino Acid Metabolism, Inborn Errors / Q000235:genetics / Q000473:pathology; D000596:Amino Acids / Q000652:urine*; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007007:Hypohidrosis / Q000473:pathology; D007039:Hypotrichosis / Q000235:genetics* / Q000473:pathology; D007057:Ichthyosis / Q000151:congenital* / Q000473:pathology; D008297:Male; D010375:Pedigree; D012872:Skin Diseases, Vesiculobullous / Q000151:congenital* / Q000473:pathology; D013546:Sweating
D000596:Amino Acids
Erythrodermia ichthyosiformis congenita mit Hypotrichose, Anhidrose, Taubstummheit und verminderter Ausscheidung einiger Aminosäuren im Harn