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Symbol
Name
ID

Smpd1
sphingomyelin phosphodiesterase 1, acid lysosomal
MGI:98325

Phenotype annotations related to immune system

*	Aspects of the system are reported to show a normal phenotype.
	Darker colors indicate more annotations

Human Phenotypes	Bone-marrow foam cells	Sea-blue histiocytosis	Lymphadenopathy	Splenomegaly	Recurrent respiratory infections
Disease(s) Associated with SMPD1	Bone-marrow foam cells	Sea-blue histiocytosis	Lymphadenopathy	Splenomegaly	Recurrent respiratory infections
Niemann-Pick disease type A
Niemann-Pick disease type B

Mouse Phenotypes		immune system phenotype	increased macrophage derived foam cell number	hepatosplenomegaly	enlarged spleen	abnormal granulocyte physiology	abnormal immune system cell morphology	increased susceptibility to bacterial infection
Availability	Mouse Genotype	immune system phenotype	increased macrophage derived foam cell number	hepatosplenomegaly	enlarged spleen	abnormal granulocyte physiology	abnormal immune system cell morphology	increased susceptibility to bacterial infection
	Smpd1^tm1Esc/Smpd1^tm1Esc	*
	Smpd1^tm1Wst/Smpd1^tm1Wst
	Smpd1^tm1Esc/Smpd1⁺

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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