Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL
Synonyms

NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL

NIEMANN-PICK DISEASE, TYPE A

ASM

NIEMANN-PICK DISEASE, TYPE B

SPHINGOMYELINASE, ACID

SMPD1
ID

http://purl.bioontology.org/ontology/OMIM/607608
altLabel

NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL

NIEMANN-PICK DISEASE, TYPE A

ASM

NIEMANN-PICK DISEASE, TYPE B

SPHINGOMYELINASE, ACID

SMPD1
cui

C2675646

C1420259

C0268242

C0268243
Gene Locus

11p15.4-p15.1
Gene Symbol

NPD

SMPD1
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/607608.0008

http://purl.bioontology.org/ontology/OMIM/607608.0003

http://purl.bioontology.org/ontology/OMIM/607608.0002

http://purl.bioontology.org/ontology/OMIM/607608.0001

http://purl.bioontology.org/ontology/OMIM/607608.0009

http://purl.bioontology.org/ontology/OMIM/607608.0005

http://purl.bioontology.org/ontology/OMIM/607608.0006

http://purl.bioontology.org/ontology/OMIM/607608.0007

http://purl.bioontology.org/ontology/OMIM/607608.0004

http://purl.bioontology.org/ontology/OMIM/607608.0013

http://purl.bioontology.org/ontology/OMIM/607608.0010

http://purl.bioontology.org/ontology/OMIM/607608.0016

http://purl.bioontology.org/ontology/OMIM/607608.0011

http://purl.bioontology.org/ontology/OMIM/607608.0017

http://purl.bioontology.org/ontology/OMIM/607608.0015

http://purl.bioontology.org/ontology/OMIM/607608.0012

http://purl.bioontology.org/ontology/OMIM/607608.0014
MIMTYPEMEANING

Gene with known sequence
notation

607608
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

SPHINGOMYELIN PHOSPHODIESTERASE 1, ACID LYSOSOMAL
tui

T047

T028
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