Online Mendelian Inheritance in Man

Last uploaded: January 16, 2025
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Preferred Name

NIEMANN-PICK DISEASE, TYPE B
Synonyms

ACID SPHINGOMYELINASE DEFICIENCY, VISCERAL TYPE

NIEMANN-PICK DISEASE, TYPE F

NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION

NIEMANN-PICK DISEASE, TYPE E

ASMD, VISCERAL TYPE
ID

http://purl.bioontology.org/ontology/OMIM/607616
altLabel

ACID SPHINGOMYELINASE DEFICIENCY, VISCERAL TYPE

NIEMANN-PICK DISEASE, TYPE F

NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION

NIEMANN-PICK DISEASE, TYPE E

ASMD, VISCERAL TYPE
cui

C2675644

C0268248

C0268243

C1843418
Gene Locus

11p15.4-p15.1
Gene Symbol

NPD

SMPD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003052

http://purl.bioontology.org/ontology/OMIM/MTHU003047

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU003050

http://purl.bioontology.org/ontology/OMIM/MTHU003053

http://purl.bioontology.org/ontology/OMIM/MTHU003058

http://purl.bioontology.org/ontology/OMIM/MTHU003054

http://purl.bioontology.org/ontology/OMIM/MTHU003049

http://purl.bioontology.org/ontology/OMIM/MTHU037132

http://purl.bioontology.org/ontology/OMIM/MTHU003051

http://purl.bioontology.org/ontology/OMIM/MTHU003057

http://purl.bioontology.org/ontology/OMIM/MTHU067761

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU003048

http://purl.bioontology.org/ontology/OMIM/MTHU003056

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU003044

http://purl.bioontology.org/ontology/OMIM/MTHU003055
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607616
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NIEMANN-PICK DISEASE, TYPE B
Scope Statement

Onset in infancy or childhood [MISCELLANEOUS]

More common in Ashkenazi Jews [MISCELLANEOUS]

Variable phenotype [MISCELLANEOUS]

Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0002) [MOLECULAR BASIS]

Allelic disorder to Niemann-Pick disease type A (257200) [MISCELLANEOUS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567267 MESH CUI
http://purl.bioontology.org/ontology/MESH/D052537 MESH CUI
http://purl.bioontology.org/ontology/MESH/D052537 MESH CUI
http://purl.bioontology.org/ontology/MESH/C564366 MESH CUI
http://purl.bioontology.org/ontology/MESH/C567267 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D052537 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/D6-74050 SNMI CUI
http://purl.bioontology.org/ontology/MESH/D052537 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D052537 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/39390005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D052537 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.241 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/39390005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D052537 MESH CUI
http://purl.bioontology.org/ontology/RCD/X40VQ RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/39390005 SCTSPA CUI
http://purl.bioontology.org/ontology/MSHFRE/D052537 MSHFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000181097 NDFRT CUI
http://purl.bioontology.org/ontology/SNMI/D6-74020 SNMI CUI
http://purl.bioontology.org/ontology/ICD10CM/E75.241 ICD10CM CUI
http://purl.bioontology.org/ontology/SNOMEDCT/39390005 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C564366 MESH CUI
http://purl.obolibrary.org/obo/MONDO_0011871 EFO LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/39390005 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MESH/D052537 MESH LOOM
http://purl.obolibrary.org/obo/MONDO_0011871 MONDO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.241 ICD10CM LOOM
http://purl.obolibrary.org/obo/DOID_0070112 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.132.100.435.825.700.750 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0025144 OMIT LOOM
http://purl.bioontology.org/ontology/MESH/D052537 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.398.641.803.730.750 RH-MESH LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12540 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12540 NIFSTD LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.595.554.825.700.750 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038567 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.595.554.825.700.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.250.410.625.750 RH-MESH LOOM
http://nanbyodata.jp/ontology/NANDO_2201207 NANDO LOOM
http://purl.obolibrary.org/obo/NCIT_C126866 BERO LOOM
http://purl.obolibrary.org/obo/DERMO_0003437 DERMO LOOM
http://purl.bioontology.org/ontology/RCD/X40VQ RCD LOOM
http://purl.obolibrary.org/obo/MONDO_0011871 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0011871 DOVES LOOM
http://purl.obolibrary.org/obo/MONDO_0011871 EFO LOOM
http://nanbyodata.jp/ontology/NANDO_1200062 NANDO LOOM
http://www.limics.org/hrdo/rdfns#pat_id_11106 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.163.100.435.825.700.750 RH-MESH LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15112 DERMLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.189.435.825.700.750 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNMI/D6-74020 SNMI LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.241 ICD10CM LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C126866 NCIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.398.641.803.730.750 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D052537 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.584.687.803.730.750 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0070112 HOIP LOOM
http://purl.obolibrary.org/obo/DOID_0070112 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0070112 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0070112 TXPO LOOM
http://purl.obolibrary.org/obo/DOID_0070112 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0070112 FNS-H LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.189.435.825.700.750 RH-MESH LOOM
http://purl.obolibrary.org/obo/DOID_0050443 CLO LOOM
http://purl.jp/bio/4/id/200906010415935333 IOBC LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050443 NATPRO LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12540 BIRNLEX LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/39390005 SNOMEDCT LOOM