Biomaterial Database

[A contribution to Lowe's oculo-cerebro-renal syndrome]. 1968

D Mücke, and G Göhring, and P Grossmann

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D008607	Intellectual Disability	Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)	Disability, Intellectual,Idiocy,Mental Retardation,Retardation, Mental,Deficiency, Mental,Intellectual Development Disorder,Mental Deficiency,Mental Retardation, Psychosocial,Deficiencies, Mental,Development Disorder, Intellectual,Development Disorders, Intellectual,Disabilities, Intellectual,Disorder, Intellectual Development,Disorders, Intellectual Development,Intellectual Development Disorders,Intellectual Disabilities,Mental Deficiencies,Mental Retardations, Psychosocial,Psychosocial Mental Retardation,Psychosocial Mental Retardations,Retardation, Psychosocial Mental,Retardations, Psychosocial Mental
D009135	Muscular Diseases	Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.	Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D001925	Brain Damage, Chronic	A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions.	Encephalopathy, Chronic,Chronic Encephalopathy,Chronic Brain Damage
D002386	Cataract	Partial or complete opacity on or in the lens or capsule of one or both eyes, impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). (Dorland, 27th ed)	Cataract, Membranous,Lens Opacities,Pseudoaphakia,Cataracts,Cataracts, Membranous,Lens Opacity,Membranous Cataract,Membranous Cataracts,Opacities, Lens,Opacity, Lens,Pseudoaphakias
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000141	Acidosis, Renal Tubular	A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.	Renal Tubular Acidosis,Renal Tubular Acidosis, Type I,Renal Tubular Acidosis, Type II,Type I Renal Tubular Acidosis,Type II Renal Tubular Acidosis,Acidosis, Renal Tubular, Type I,Acidosis, Renal Tubular, Type II,Autosomal Dominant Distal Renal Tubular Acidosis,Classic Distal Renal Tubular Acidosis,Distal Renal Tubular Acidosis,Proximal Renal Tubular Acidosis,RTA, Classic Type,RTA, Distal Type, Autosomal Dominant,RTA, Gradient Type,RTA, Proximal Type,Renal Tubular Acidosis 1,Renal Tubular Acidosis I,Renal Tubular Acidosis II,Renal Tubular Acidosis, Distal, Autosomal Dominant,Renal Tubular Acidosis, Proximal,Renal Tubular Acidosis, Proximal, with Ocular Abnormalities,Classic Type RTA,Classic Type RTAs,Gradient Type RTA,Gradient Type RTAs,Proximal Type RTA,Proximal Type RTAs,RTAs, Classic Type,RTAs, Gradient Type,RTAs, Proximal Type
D000419	Albuminuria	The presence of albumin in the urine, an indicator of KIDNEY DISEASES.	Albuminurias
D000608	Renal Aminoacidurias	A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.	Aminoaciduria, Renal,Aminoacidurias, Renal,Renal Aminoaciduria