C0029454 - A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.

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Lang Dictionary CODE			LUI	preferred no	SUI	preference Yes / No	Terms, descriptions
							CUI C0029454

Russian	Medical Subject Headings Russian	D010022	L3361814	preferred	S3889300	Y	ОСТЕОПЕТРОЗ
Russian	Medical Subject Headings Russian	D010022	L0901059	no	S1104876	Y	OSTEOPETROZ
Russian	Medical Subject Headings Russian	D010022	L1507993	no	S1803902	Y	AL'BERS-SHENBERGA BOLEZN'
Russian	Medical Subject Headings Russian	D010022	L1531228	no	S1827137	Y	MRAMORNAIA BOLEZN'
Russian	Medical Subject Headings Russian	D010022	L1534757	no	S1830666	Y	OSTEOPETROZ VROZHDENNYI SISTEMNYI
Russian	MDRRUS	10031280	L15737907	no	S19056194	N	Остеопетроз
Russian	MDRRUS	10031280	L15737907	no	S19056194	Y	Остеопетроз
Russian	MDRRUS	10026821	L15747895	no	S19047808	Y	Мраморная болезнь
Russian	MDRRUS	10001556	L15755656	no	S19020932	Y	Болезнь Альберс-Шенберга
Russian	Medical Subject Headings Russian	D010022	L3337687	no	S3865168	Y	АЛЬБЕРС-ШЕНБЕРГА БОЛЕЗНЬ
Russian	Medical Subject Headings Russian	D010022	L3358766	no	S3886251	Y	МРАМОРНАЯ БОЛЕЗНЬ
Russian	Medical Subject Headings Russian	D010022	L3361815	no	S3889301	Y	ОСТЕОПЕТРОЗ ВРОЖДЕННЫЙ СИСТЕМНЫЙ
	Medical Subject Headings				A0095829	AT53895247	Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).
	(CPTSP) CRISP Thesaurus				A0485372	AT51225431	excessive formation of dense trabecular bone leading to pathological fractures, osteitis, splenomegaly with infarct, anemia, and extramedullary hemopoiesis.
	Medical Subject Headings Czech				A23444402	AT195258594	Familiární osteopetróza provázená leukoerytroblastickou anemií a hepatosplenomegalií v důsledku extramedulární krvetvorby. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
	HPO				A24667488	AT206302787	Abnormally increased formation of dense trabecular bone tissue. Despite the increased density of bone tissue, osteopetrotic bones tend to be more fracture-prone than normal. [HPO:probinson]
	NCI Thesaurus				A7572721	AT205726988	A rare genetic disorder inherited in an autosomal dominant, autosomal recessive, or X-linked recessive pattern. In the majority of cases it is caused by mutations in the CLCN7, TCIRG1, or IKBKG genes. It is characterized by excessive bone formation due to the failure of osteoclasts to resorb bone. It manifests with deformities, fractures, hepatosplenomegaly, anemia, and extramedullary hematopoiesis.
	NCI National Institute of Child Health and Human Development				A7572721	AT224188887	A group of bone disorders caused by autosomal dominant or recessive mutation(s) in multiple genes involved in osteoclast function, including TCIRG1, CLCN7, OSTM1, SNX10, and PLEKHM1. This condition is characterized by the failure of osteoclasts to resorb bone, resulting in impaired bone modeling/remodeling, and skeletal fragility despite increased bone mass; it can also be associated with hematopoietic insufficiency, hypocalcemia, disturbed tooth eruption, nerve entrapment syndromes, and growth impairment.