Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
Synonyms

EBV INFECTION, SEVERE, SUSCEPTIBILITY TO
ID

http://purl.bioontology.org/ontology/OMIM/308240
altLabel

EBV INFECTION, SEVERE, SUSCEPTIBILITY TO

EBVS

INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO

LYP

PURTILO SYNDROME

IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE

XLP1

XLP

IMD5

XLPD

IMMUNODEFICIENCY 5

DUNCAN DISEASE

LYMPHOPROLIFERATIVE DISEASE, X-LINKED

EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL
cui

C0549463
Gene Locus

Xq25
Gene Symbol

XLPD1

LYP

SH2D1A

XLP

IMD5
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU002596

http://purl.bioontology.org/ontology/OMIM/MTHU002606

http://purl.bioontology.org/ontology/OMIM/MTHU007426

http://purl.bioontology.org/ontology/OMIM/MTHU036683

http://purl.bioontology.org/ontology/OMIM/MTHU007428

http://purl.bioontology.org/ontology/OMIM/MTHU007436

http://purl.bioontology.org/ontology/OMIM/MTHU007434

http://purl.bioontology.org/ontology/OMIM/MTHU038295

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

http://purl.bioontology.org/ontology/OMIM/MTHU007438

http://purl.bioontology.org/ontology/OMIM/MTHU007432

http://purl.bioontology.org/ontology/OMIM/MTHU006900

http://purl.bioontology.org/ontology/OMIM/MTHU005994

http://purl.bioontology.org/ontology/OMIM/MTHU006894

http://purl.bioontology.org/ontology/OMIM/MTHU007441

http://purl.bioontology.org/ontology/OMIM/MTHU000212

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

http://purl.bioontology.org/ontology/OMIM/MTHU032976

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

http://purl.bioontology.org/ontology/OMIM/MTHU007433

http://purl.bioontology.org/ontology/OMIM/MTHU007429

http://purl.bioontology.org/ontology/OMIM/MTHU038296

http://purl.bioontology.org/ontology/OMIM/MTHU038294

http://purl.bioontology.org/ontology/OMIM/MTHU007437

http://purl.bioontology.org/ontology/OMIM/MTHU007435

http://purl.bioontology.org/ontology/OMIM/MTHU007431

http://purl.bioontology.org/ontology/OMIM/MTHU007430
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

308240
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
tui

T191
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http://purl.bioontology.org/ontology/ICD10CM/D82.3 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D008232 Medical Subject Headings CUI