Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Niemann-Pick Disease, Type A
Synonyms	Supraoptic Vertical Ophthalmoplegias Lipidoses, Neuronal Cholesterol Lipidosis, Sphingomyelin Type A Niemann-Pick Disease Sphingomyelinase Deficiency Disease Niemann-Pick's Disease Type A Deficiencies, Sphingomyelinase Sphingomyelin Cholesterol Lipidoses Neuronal Cholesterol Lipidosis Niemann-Pick Disease, Neuronopathic Type Sphingomyelin Lipidosis Niemann Pick Disease, Type A Supraoptic Vertical Ophthalmoplegia Niemann-Pick Disease, Classical Sphingomyelinase Deficiency Sphingomyelinase Deficiency Diseases Lipidoses, Sphingomyelin Cholesterol Vertical Ophthalmoplegias, Supraoptic Sphingomyelin Cholesterol Lipidosis Cholesterol Lipidosis, Sphingomyelin Vertical Ophthalmoplegia, Supraoptic Sphingomyelin Lipidoses Niemann-Pick Disease, Acute Neurovisceral Form Neuronal Cholesterol Lipidoses Lipidoses, Sphingomyelin Niemann Pick Disease, Acute Neurovisceral Form Type A Niemann Pick Disease Niemann-Pick Disease, Acute Neuronopathic Form Cholesterol Lipidoses, Sphingomyelin Niemann Pick's Disease Type A Deficiency, Sphingomyelinase Ophthalmoplegias, Supraoptic Vertical Classical Niemann-Pick Disease Lipidosis, Neuronal Cholesterol Cholesterol Lipidoses, Neuronal Ophthalmoplegia, Supraoptic Vertical Sphingomyelinase Deficiencies Classical Niemann Pick Disease Niemann Pick Disease, Neuronopathic Type Lipidosis, Sphingomyelin Cholesterol Cholesterol Lipidosis, Neuronal Niemann Pick Disease, Acute Neuronopathic Form
Definitions	The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
ID	http://purl.bioontology.org/ontology/MESH/D052536
altLabel	Supraoptic Vertical Ophthalmoplegias Lipidoses, Neuronal Cholesterol Lipidosis, Sphingomyelin Type A Niemann-Pick Disease Sphingomyelinase Deficiency Disease Niemann-Pick's Disease Type A Deficiencies, Sphingomyelinase Sphingomyelin Cholesterol Lipidoses Neuronal Cholesterol Lipidosis Niemann-Pick Disease, Neuronopathic Type Sphingomyelin Lipidosis Niemann Pick Disease, Type A Supraoptic Vertical Ophthalmoplegia Niemann-Pick Disease, Classical Sphingomyelinase Deficiency Sphingomyelinase Deficiency Diseases Lipidoses, Sphingomyelin Cholesterol Vertical Ophthalmoplegias, Supraoptic Sphingomyelin Cholesterol Lipidosis Cholesterol Lipidosis, Sphingomyelin Vertical Ophthalmoplegia, Supraoptic Sphingomyelin Lipidoses Niemann-Pick Disease, Acute Neurovisceral Form Neuronal Cholesterol Lipidoses Lipidoses, Sphingomyelin Niemann Pick Disease, Acute Neurovisceral Form Type A Niemann Pick Disease Niemann-Pick Disease, Acute Neuronopathic Form Cholesterol Lipidoses, Sphingomyelin Niemann Pick's Disease Type A Deficiency, Sphingomyelinase Ophthalmoplegias, Supraoptic Vertical Classical Niemann-Pick Disease Lipidosis, Neuronal Cholesterol Cholesterol Lipidoses, Neuronal Ophthalmoplegia, Supraoptic Vertical Sphingomyelinase Deficiencies Classical Niemann Pick Disease Niemann Pick Disease, Neuronopathic Type Lipidosis, Sphingomyelin Cholesterol Cholesterol Lipidosis, Neuronal Niemann Pick Disease, Acute Neuronopathic Form
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui	C0268242
DC	1
definition	The classic infantile form of Niemann-Pick Disease, caused by mutation in SPHINGOMYELIN PHOSPHODIESTERASE. It is characterized by accumulation of SPHINGOMYELINS in the cells of the MONONUCLEAR PHAGOCYTE SYSTEM and other cell throughout the body leading to cell death. Clinical signs include JAUNDICE, hepatosplenomegaly, and severe brain damage.
DX	20070101
HN	2007; use NIEMANN-PICK DISEASES 2000-2006
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation	2007; see NIEMANN-PICK DISEASES 2000-2006
MDA	20060705
MMR	20210701
MN	C18.452.648.595.554.825.700.500 C15.604.250.410.625.500 C16.320.565.398.641.803.730.500 C18.452.648.398.641.803.730.500 C18.452.584.563.641.803.730.500 C18.452.648.189.435.825.700.500 C16.320.565.189.435.825.700.500 C16.320.565.595.554.825.700.500 C18.452.132.100.435.825.700.500 C10.228.140.163.100.435.825.700.500
notation	D052536
prefLabel	Niemann-Pick Disease, Type A
TERMUI	T812185 T369721 T369744 T369743 T369757 T649283 T812184 T647719 T000888259 T647720 T842144 T842143 T369718
TH	NLM (2016) OMIM (2013) NLM (2000) GHR (2014) NLM (2007) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D009542

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/SNOMEDCT/52165006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181096	NDFRT	CUI
http://purl.bioontology.org/ontology/MSHFRE/D052536	MSHFRE	CUI
http://purl.bioontology.org/ontology/RCD/X40VP	RCD	CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.240	ICD10CM	CUI
http://purl.bioontology.org/ontology/OMIM/607608	OMIM	CUI
http://purl.bioontology.org/ontology/SNMI/D6-74010	SNMI	CUI
http://purl.bioontology.org/ontology/OMIM/257200	OMIM	CUI
http://purl.bioontology.org/ontology/SCTSPA/52165006	SCTSPA	CUI
http://purl.obolibrary.org/obo/DOID_0070111	DOID	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/52165006	SNOMEDCT	LOOM
http://id.nlm.nih.gov/mesh/D052536	MDM	LOOM
http://purl.obolibrary.org/obo/OMIT_0025143	OMIT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009756	CCONT	LOOM
http://purl.obolibrary.org/obo/MONDO_0009756	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0009756	DOVES	LOOM
http://purl.obolibrary.org/obo/MONDO_0009756	EFO	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038566	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.700.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.700.500	RH-MESH	LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12539	BIRNLEX	LOOM
http://nanbyodata.jp/ontology/NANDO_2201206	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.700.500	RH-MESH	LOOM
http://purl.obolibrary.org/obo/NCIT_C126561	BERO	LOOM
http://purl.jp/bio/4/id/200906032417381886	IOBC	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D052536	RH-MESH	LOOM
http://nanbyodata.jp/ontology/NANDO_1200061	NANDO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.700.500	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DERMO_0003436	DERMO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0268242	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.700.500	RH-MESH	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11105	HRDO	LOOM
http://purl.bioontology.org/ontology/RCD/X40VP	RCD	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.730.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.730.500	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DOID_0070111	HOIP	LOOM
http://purl.obolibrary.org/obo/DOID_0070111	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0070111	DDSS	LOOM
http://purl.obolibrary.org/obo/DOID_0070111	TXPO	LOOM
http://purl.obolibrary.org/obo/DOID_0070111	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0070111	FNS-H	LOOM
http://purl.obolibrary.org/obo/DOID_0050442	CLO	LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.240	ICD10CM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.250.410.625.500	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.730.500	RH-MESH	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126561	NCIT	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15111	DERMLEX	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12539	NIFDYS	LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12539	NIFSTD	LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74010	SNMI	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.700.500	RH-MESH	LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050442	NATPRO	LOOM
http://purl.bioontology.org/ontology/OMIM/257200	OMIM	LOOM