Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023
Preferred Name

Autoimmune lymphoproliferative syndrome

Synonyms

Canale-Smith syndrome

ALPS

Definitions

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

ID

http://www.orpha.net/ORDO/Orphanet_3261

alternative_term

Canale-Smith syndrome

ALPS

definition

A rare, inherited disorder characterized by non-malignant lymphoproliferation, multilineage cytopenias, and a lifelong increased risk of Hodgkin's and non-Hodgkin's lymphoma.

definition_citation

Orphanet

expertlink

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3261

has_age_of_onset

All ages

has_inheritance

Autosomal recessive

Autosomal dominant

hasDbXref

UMLS:C1328840

ICD-10:D47.9

OMIM:618534

OMIM:615559

ICD-11:4A01.22

OMIM:603909

MeSH:D056735

OMIM:601859

MedDRA:10069521

label

Autoimmune lymphoproliferative syndrome

notation

ORPHA:3261

part_of

http://www.orpha.net/ORDO/Orphanet_171898

http://www.orpha.net/ORDO/Orphanet_238510

http://www.orpha.net/ORDO/Orphanet_169355

prefixIRI

ORDO:Orphanet_3261

prefLabel

Autoimmune lymphoproliferative syndrome

present_in

Worldwide AND has_cases/families_value : 500.0 (Case)

Worldwide AND has_point_prevalence_range : Unknown

treeView

http://www.orpha.net/ORDO/Orphanet_171898

http://www.orpha.net/ORDO/Orphanet_238510

http://www.orpha.net/ORDO/Orphanet_169355

subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493

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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_3261 EFO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0017979 MONDO LOOM
http://nanbyodata.jp/ontology/NANDO_1200352 NANDO LOOM
http://nanbyodata.jp/ontology/NANDO_2200726 NANDO LOOM
http://purl.obolibrary.org/obo/MONDO_0017979 EFO LOOM
http://purl.obolibrary.org/obo/DOID_6688 DOID LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C15.604.515.138 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00037428 PMAPP-PMO LOOM
http://purl.obolibrary.org/obo/NCIT_C37864 BERO LOOM
http://purl.bioontology.org/ontology/OMIM/601859 OMIM LOOM
http://purl.obolibrary.org/obo/MONDO_0017979 DOVES LOOM
http://purl.jp/bio/4/id/201006089431511795 IOBC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.089 RH-MESH LOOM
http://purl.bioontology.org/ontology/PDQ/CDR0000739826 PDQ LOOM
http://purl.bioontology.org/ontology/ICD9CM/279.41 ICD9CM LOOM
http://purl.bioontology.org/ontology/ICD9CM/279.41 NLMVS LOOM
http://purl.obolibrary.org/obo/OMIT_0026704 OMIT LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37864 NCIT LOOM
http://purl.bioontology.org/ontology/MESH/D056735 MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/702444009 SNOMEDCT LOOM
http://purl.bioontology.org/ontology/MEDDRA/10069521 MEDDRA LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.111.288 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C20.683.515.124 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D056735 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#pat_id_3468 HRDO LOOM
http://purl.obolibrary.org/obo/DOID_6688 DTO LOOM
http://purl.obolibrary.org/obo/DOID_6688 BAO LOOM
http://purl.obolibrary.org/obo/DOID_6688 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_6688 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_6688 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_6688 FNS-H LOOM