Biomaterial Database

[Genetic prenatal diagnosis]. 1978

J Bernal, and I Avendaño, and M Aspillaga

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008375	Maple Syrup Urine Disease	An autosomal recessive inherited disorder with multiple forms of phenotypic expression, caused by a defect in the oxidative decarboxylation of branched-chain amino acids (AMINO ACIDS, BRANCHED-CHAIN). These metabolites accumulate in body fluids and render a "maple syrup" odor. The disease is divided into classic, intermediate, intermittent, and thiamine responsive subtypes. The classic form presents in the first week of life with ketoacidosis, hypoglycemia, emesis, neonatal seizures, and hypertonia. The intermediate and intermittent forms present in childhood or later with acute episodes of ataxia and vomiting. (From Adams et al., Principles of Neurology, 6th ed, p936)	Branched-Chain Ketoaciduria,Thiamine Responsive Maple Syrup Urine Disease,BCKD Deficiency,Branched-Chain alpha-Keto Acid Dehydrogenase Deficiency,Classic Maple Syrup Urine Disease,Classical Maple Syrup Urine Disease,Intermediate Maple Syrup Urine Disease,Intermittent Maple Syrup Urine Disease,Keto Acid Decarboxylase Deficiency,MSUD (Maple Syrup Urine Disease),Maple Syrup Urine Disease, Classic,Maple Syrup Urine Disease, Classical,Maple Syrup Urine Disease, Intermediate,Maple Syrup Urine Disease, Intermittent,Maple Syrup Urine Disease, Thiamine Responsive,Maple Syrup Urine Disease, Thiamine-Responsive,Branched Chain Ketoaciduria,Branched Chain alpha Keto Acid Dehydrogenase Deficiency,Branched-Chain Ketoacidurias,Ketoaciduria, Branched-Chain,Ketoacidurias, Branched-Chain
D008661	Metabolism, Inborn Errors	Errors in metabolic processes resulting from inborn genetic mutations that are inherited or acquired in utero.	Inborn Errors of Metabolism,Metabolism Errors, Inborn,Error, Inborn Metabolism,Errors Metabolism, Inborn,Errors Metabolisms, Inborn,Errors, Inborn Metabolism,Inborn Errors Metabolism,Inborn Errors Metabolisms,Inborn Metabolism Error,Inborn Metabolism Errors,Metabolism Error, Inborn,Metabolism Inborn Error,Metabolism Inborn Errors,Metabolisms, Inborn Errors
D009083	Mucopolysaccharidoses	Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.	Mucopolysaccharidosis
D011247	Pregnancy	The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.	Gestation,Pregnancies
D002869	Chromosome Aberrations	Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.	Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D004314	Down Syndrome	A chromosome disorder associated either with an extra CHROMOSOME 21 or an effective TRISOMY for chromosome 21. Clinical manifestations include HYPOTONIA, short stature, BRACHYCEPHALY, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, single transverse palmar crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)	Mongolism,Trisomy 21,47,XX,+21,47,XY,+21,Down Syndrome, Partial Trisomy 21,Down's Syndrome,Partial Trisomy 21 Down Syndrome,Trisomy 21, Meiotic Nondisjunction,Trisomy 21, Mitotic Nondisjunction,Trisomy G,Downs Syndrome,Syndrome, Down,Syndrome, Down's
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000013	Congenital Abnormalities	Malformations of organs or body parts during development in utero.	Birth Defects,Congenital Defects,Deformities,Fetal Anomalies,Fetal Malformations,Abnormalities, Congenital,Defects, Congenital,Abnormality, Congenital,Anomaly, Fetal,Birth Defect,Congenital Abnormality,Congenital Defect,Defect, Birth,Defect, Congenital,Deformity,Fetal Anomaly,Fetal Malformation,Malformation, Fetal