Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

X-linked lymphoproliferative syndrome
Synonyms

XLP1

X-linked lymphoproliferative syndrome type 1

lymphoproliferative syndrome, X-linked, type 1

X-linked lymphoproliferative disease

lymphoproliferative syndrome X-linked 1

lymphoproliferative syndrome, X-linked, 1

X-linked lymphoproliferative syndrome 1

SH2D1A-related lymphoproliferative disease, X-linked

XLP

Duncan disease

lymphoproliferative syndrome, X-linked

Purtilo syndrome

X-linked lymphoproliferative syndrome

X linked Lymphoproliferative Syndrome

Definitions

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV). Editor note: two OMIMPS

ID

http://purl.obolibrary.org/obo/MONDO_0010627

comment

Editor note: two OMIMPS

database_cross_reference

MedDRA:10068348

NANDO:1200351

NANDO:2200725

SCTID:77121009

NCIT:C61246

Orphanet:2442

DOID:0060705

GARD:10915

UMLS:C0549463

MEDGEN:107498

NORD:1865

ICD9:238.79

definition

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

has_exact_synonym

Duncan disease

lymphoproliferative syndrome, X-linked

Purtilo syndrome

X-linked lymphoproliferative syndrome

X linked Lymphoproliferative Syndrome

has_narrow_synonym

XLP1

X-linked lymphoproliferative syndrome type 1

lymphoproliferative syndrome, X-linked, type 1

has_related_synonym

X-linked lymphoproliferative disease

lymphoproliferative syndrome X-linked 1

lymphoproliferative syndrome, X-linked, 1

X-linked lymphoproliferative syndrome 1

SH2D1A-related lymphoproliferative disease, X-linked

XLP

id

MONDO:0010627

in_subset

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

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

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

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

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

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

label

X-linked lymphoproliferative syndrome

notation

MONDO:0010627

prefLabel

X-linked lymphoproliferative syndrome

seeAlso

https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1

skos_closeMatch

http://identifiers.org/meddra/10068348

skos_exactMatch

http://purl.obolibrary.org/obo/Orphanet_2442

http://identifiers.org/medgen/107498

http://purl.obolibrary.org/obo/NCIT_C61246

http://identifiers.org/snomedct/77121009

http://purl.obolibrary.org/obo/DOID_0060705

http://linkedlifedata.com/resource/umls/id/C0549463

terms_conformsTo

http://purl.obolibrary.org/obo/x_linked.yaml

treeView

http://purl.obolibrary.org/obo/MONDO_0016537

http://purl.obolibrary.org/obo/MONDO_0021094

http://purl.obolibrary.org/obo/MONDO_0000425

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015541

subClassOf

http://purl.obolibrary.org/obo/MONDO_0016537

http://purl.obolibrary.org/obo/MONDO_0021094

http://purl.obolibrary.org/obo/MONDO_0000425

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