Human Disease Ontology

Last uploaded: December 20, 2024
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Preferred Name

Niemann-Pick disease
Synonyms

Sphingomyelinase Deficiency Disease

sphingomyelin lipidosis

lipoid histiocytosis
Definitions

A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_14504
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

MESH:D009542

UMLS_CUI:C0028064

ICD10CM:E75.24

SNOMEDCT_US_2023_03_01:58459009

GARD:13334

NCI:C61269
definition

A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells.
has exact synonym

Sphingomyelinase Deficiency Disease

sphingomyelin lipidosis

lipoid histiocytosis
has_alternative_id

DOID:0050443

DOID:0050442

DOID:14770
has_obo_namespace

disease_ontology
id

DOID:14504
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

Niemann-Pick disease
notation

DOID:14504
prefLabel

Niemann-Pick disease
subClassOf

http://purl.obolibrary.org/obo/DOID_1927
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_14504 CLO SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 HOIP SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 BAO SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 EPIO SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 HHEAR SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 DDSS SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 TXPO SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 NIFSTD SAME_URI
http://purl.obolibrary.org/obo/DOID_14504 FNS-H SAME_URI
http://localhost/plosthes.2017-1#9029 PLOSTHES LOOM
http://bioontology.org/projects/ontologies/birnlex#birnlex_12538 BIRNLEX LOOM
http://nanbyodata.jp/ontology/NANDO_2200561 NANDO LOOM
rgo:21674 GAMUTS LOOM
http://purl.jp/bio/4/id/200906071876767512 IOBC LOOM
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0028064 MEDLINEPLUS LOOM
http://purl.bioontology.org/ontology/MEDDRA/10029403 MEDDRA LOOM
http://purl.obolibrary.org/obo/DOID_14504 CLO LOOM
http://purl.obolibrary.org/obo/DOID_14504 HOIP LOOM
http://purl.obolibrary.org/obo/DOID_14504 BAO LOOM
http://purl.obolibrary.org/obo/DOID_14504 EPIO LOOM
http://purl.obolibrary.org/obo/DOID_14504 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_14504 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_14504 TXPO LOOM
http://purl.obolibrary.org/obo/DOID_14504 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_14504 FNS-H LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61269 NCIT LOOM
http://purl.bioontology.org/ontology/RCTV2/C327200 RCTV2 LOOM
http://purl.obolibrary.org/obo/NCIT_C61269 BERO LOOM
http://purl.obolibrary.org/obo/MONDO_0001982 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0001982 DOVES LOOM
http://www.owl-ontologies.com/unnamed.owl#RID15110 DERMLEX LOOM
http://purl.bioontology.org/ontology/CSP/1849-9151 CRISP LOOM
http://www.co-ode.org/ontologies/galen#NiemannPickDisease GALEN LOOM
http://www.ebi.ac.uk/efo/EFO_1001380 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_1001380 EFO LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Niemann-Pick_Disease CSEO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_14504 NATPRO LOOM
http://purl.bioontology.org/ontology/ICD10CM/E75.24 ICD10CM LOOM
http://purl.obolibrary.org/obo/DERMO_0000534 DERMO LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12538 NIFDYS LOOM
http://uri.neuinfo.org/nif/nifstd/birnlex_12538 NIFSTD LOOM
http://purl.bioontology.org/ontology/RCD/C3272 RCD LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0028064 OCHV LOOM
http://www.gamuts.net/entity#Niemann_Pick_disease GAMUTS REST
http://www.gamuts.net/entity#Niemann_Pick_disease_type_C GAMUTS REST