C0266526 - A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0266526

Russian	MDRRUS	10069760	L15755673	preferred	S19021085	N	Болезнь Норри
Russian	MDRRUS	10069760	L15755673	preferred	S19021085	Y	Болезнь Норри
	(JABL) Congenital Mental Retardation Syndromes				A1704437	AT14332124	Blindness often accompanied by mental deficiency, hearing impairment, and other disorders. The original report describes the syndrome in 7 boys in a Danish family but later cases were reported in several other geographic areas, including Episkopi in Cyprus (hence the synonym Episkopi blindness).
	NCI Thesaurus				A24380816	AT205732345	A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.