Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

NIEMANN-PICK DISEASE, TYPE A
Synonyms

NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL

ASMD, NEUROVISCERAL TYPE

SPHINGOMYELIN LIPIDOSIS

SPHINGOMYELINASE DEFICIENCY

ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE
ID

http://purl.bioontology.org/ontology/OMIM/257200
altLabel

NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL

ASMD, NEUROVISCERAL TYPE

SPHINGOMYELIN LIPIDOSIS

SPHINGOMYELINASE DEFICIENCY

ACID SPHINGOMYELINASE DEFICIENCY, NEUROVISCERAL TYPE
cui

C2675646

C0268242
Gene Locus

11p15.4-p15.1
Gene Symbol

NPD

SMPD1
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU010534

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU005239

http://purl.bioontology.org/ontology/OMIM/MTHU010536

http://purl.bioontology.org/ontology/OMIM/MTHU000328

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

http://purl.bioontology.org/ontology/OMIM/MTHU001907

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/MTHU004882

http://purl.bioontology.org/ontology/OMIM/MTHU010535

http://purl.bioontology.org/ontology/OMIM/MTHU010540

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU002380

http://purl.bioontology.org/ontology/OMIM/MTHU000133

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU010541

http://purl.bioontology.org/ontology/OMIM/MTHU001721

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU006439

http://purl.bioontology.org/ontology/OMIM/MTHU002630

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU010538

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

http://purl.bioontology.org/ontology/OMIM/MTHU003015

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

http://purl.bioontology.org/ontology/OMIM/MTHU009452
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

257200
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

NIEMANN-PICK DISEASE, TYPE A
Scope Statement

Allelic disorder to Nieman-Pick disease type B (607616) [MISCELLANEOUS]

Caused by mutations in the acid lysosomal sphingomyelin phosphodiesterase-1 gene (SMPD1, 607608.0001) [MOLECULAR BASIS]

Death by age 3 years [MISCELLANEOUS]

More common in Ashkenazi Jews [MISCELLANEOUS]

Onset in infancy [MISCELLANEOUS]
tui

T047
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Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567268 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/52165006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D052536 MESH 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/SNMI/D6-74010 SNMI 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.bioontology.org/ontology/MESH/D052536 MESH 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