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Nezelof syndrome - traducción al ruso
HUMAN DISEASE
Nezelof's syndrome; Thymic dysplasia with normal immunoglobulins
Nezelof syndrome
медицина
лимфоцитарная аплазия
adiposogenital dystrophy
HYPOTHALAMIC DISEASE THAT IS CHARACTERIZED BY ENDOCRINE DYSFUNCTION OF THE HYPOTHALAMIC GLAND RESULTING IN DELAYED PUBERTY, SMALL TESTES, AND OBESITY
Babinski-Fröhlich syndrome; Fröhlich's syndrome; Froelich's syndrome; Frölich's Syndrome; Launois-Cleret syndrome; Frölich's syndrome; Frohlich's Syndrome; Froelich's Syndrome; Fröchlich syndrome; Dystrophia adiposogenitalis; Babinski-Fröhlich disease; Adiposogenital Dystrophy; Frolich's syndrome; Frolich's Syndrome; Frohlich's syndrome; Froehlich's syndrome; Babinski-Froehlich syndrome; Babinski-Frohlich syndrome; Babinski-Froehlich disease; Babinski-Frohlich disease; Frochlich syndrome; Froechlich syndrome; Babinski–Fröhlich syndrome
медицина
гипофизарный евнухоидизм
адипозогенитальная дистрофия
гипофизарное ожирение
cerebro-oculo-facio-skeletal syndrome
RARE AND FATAL AUTOSOMAL RECESSIVE NEURODEGENERATIVE DISORDER
Cockayne's syndrome; Neiill-Dingwall syndrome; Neill-Dingwall syndrome; Dwarfism-retinal atrophy-deafness syndrome; Cockayne syndrome type 1; Cockayne syndrome type 2; Cockayne syndrome type 3; Cerebrooculofacioskeletal Syndrome; Cockayne Syndrome type II; COFS syndrome; Pena Shokeir II syndrome; Pena Shokeir syndrome type II; Cerebrooculofacioskeletal syndrome; Pena-Shokeir syndrome, type 2; Cockayne syndrome type A; Cockayne syndrome type B; Cockayne syndrome type C; Cockayne syndrome type III; Cerebro-oculo-facio-skeletal syndrome; Cerebrooculofacioskeletal syndrome 1; Cerebrooculofacioskeletal syndrome 2; Cerebrooculofacioskeletal syndrome 4; Cofs syndrome; Type II Cockayne syndrome; Pena-Shokeir syndrome type II; Cocaine Syndrome; Cocaine syndrome
медицина
церебро-окуло-фациоскелетный синдром
Definición
Reye's syndrome
['re?z, 'r??z]
¦ noun a life-threatening metabolic disorder in young children, of uncertain cause.
Origin
1960s: named after the Australian paediatrician Ralph D. K. Reye.
Wikipedia
Nezelof syndrome
Nezelof syndrome is an autosomal recessive congenital immunodeficiency condition due to underdevelopment of the thymus. The defect is a type of purine nucleoside phosphorylase deficiency with inactive phosphorylase, this results in an accumulation of deoxy-GTP which inhibits ribonucleotide reductase. Ribonucleotide reductase catalyzes the formation of deoxyribonucleotides from ribonucleotides, thus, DNA replication is inhibited.
