Mondo Disease Ontology

Last uploaded: December 3, 2024
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Preferred Name

Niemann-Pick disease type A
Synonyms

sphingomyelin lipidosis

Niemann-PICK disease, type A

sphingomyelinase deficiency

Niemann-Pick disease, Intermediate, protracted neurovisceral
Definitions

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
ID

http://purl.obolibrary.org/obo/MONDO_0009756
database_cross_reference

NCIT:C126561

NANDO:2201206

GARD:7206

Orphanet:77292

DOID:0070111

OMIM:257200

SCTID:52165006

MESH:D052536

NANDO:1200061

MEDGEN:78650

icd11.foundation:530611243

UMLS:C0268242
definition

Niemann-Pick disease type A is a very severe subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in infancy or early childhood with failure to thrive, hepatosplenomegaly, and rapidly progressive neurodegenerative disorders.
has_related_synonym

sphingomyelin lipidosis

Niemann-PICK disease, type A

sphingomyelinase deficiency

Niemann-Pick disease, Intermediate, protracted neurovisceral
IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4984
id

MONDO:0009756
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare
label

Niemann-Pick disease type A
notation

MONDO:0009756
prefLabel

Niemann-Pick disease type A
skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_77292

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/530611243

http://purl.obolibrary.org/obo/NCIT_C126561

https://omim.org/entry/257200

http://linkedlifedata.com/resource/umls/id/C0268242

http://identifiers.org/snomedct/52165006

http://identifiers.org/medgen/78650

http://purl.obolibrary.org/obo/DOID_0070111

http://identifiers.org/mesh/D052536
treeView

http://purl.obolibrary.org/obo/MONDO_0100464

http://purl.obolibrary.org/obo/MONDO_0006025

http://purl.obolibrary.org/obo/MONDO_0005328
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100464

http://purl.obolibrary.org/obo/MONDO_0006025

http://purl.obolibrary.org/obo/MONDO_0005328
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Mapping To Ontology Source
http://purl.obolibrary.org/obo/MONDO_0009756 CCONT SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009756 DOVES SAME_URI
http://purl.obolibrary.org/obo/MONDO_0009756 EFO SAME_URI
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 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