Biomaterial Database

[Make your own diagnosis]. 1979

H M Grubbauer, and W Muntean

UI	MeSH Term	Description	Entries
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D009800	Oculocerebrorenal Syndrome	A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)	Cerebrooculorenal Syndrome,Lowe Syndrome,Cerebro-Oculo-Renal Syndrome,Lowe Disease,Lowe Oculocerebrorenal Syndrome,Lowe-Bickel Syndrome,Lowe-Terrey-MacLachlan Syndrome,Oculocerebrorenal Dystrophy,Oculocerebrorenal Syndrome of Lowe,Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency,Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency,Renal-Oculocerebrodystrophy,Cerebro Oculo Renal Syndrome,Deficiency, Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase,Dystrophy, Oculocerebrorenal,Lowe Bickel Syndrome,Lowe Terrey MacLachlan Syndrome,Phosphatidylinositol 4,5 Bisphosphate 5 Phosphatase Deficiency,Renal Oculocerebrodystrophy
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D015499	Renal Tubular Transport, Inborn Errors	Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.	Kidney Tubular Transport, Inborn Errors,Kidney Tubular Transport, Inborn Error,Renal Tubular Transport Errors,Renal Tubular Transport, Inborn Error