Online Mendelian Inheritance in Man - LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/308240 http://purl.bioontology.org/ontology/OMIM/308240
Preferred Name	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
Synonyms	EBVS PURTILO SYNDROME LYMPHOPROLIFERATIVE DISEASE, X-LINKED EBV INFECTION, SEVERE, SUSCEPTIBILITY TO XLP LYP IMD5 IMMUNODEFICIENCY 5 XLPD XLP1 EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO DUNCAN DISEASE See more See less
Type	http://www.w3.org/2002/07/owl#Class

altLabel	EBVS PURTILO SYNDROME LYMPHOPROLIFERATIVE DISEASE, X-LINKED EBV INFECTION, SEVERE, SUSCEPTIBILITY TO XLP LYP IMD5 IMMUNODEFICIENCY 5 XLPD XLP1 EPSTEIN-BARR VIRUS INFECTION, FAMILIAL FATAL IMMUNODEFICIENCY, X-LINKED PROGRESSIVE COMBINED VARIABLE INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO DUNCAN DISEASE See more See less
prefLabel	LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
Gene Symbol	LYP IMD5 XLPD1 XLP SH2D1A
Scope Statement	Caused by mutations in the SH2 domain protein 1A gene (SH2D1A, 300490.0001) [MOLECULAR BASIS] Reduced life expectancy, death by 10 years of age in 70% of patients [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU005994 http://purl.bioontology.org/ontology/OMIM/MTHU001744 http://purl.bioontology.org/ontology/OMIM/MTHU006900 http://purl.bioontology.org/ontology/OMIM/MTHU007428 http://purl.bioontology.org/ontology/OMIM/MTHU007430 http://purl.bioontology.org/ontology/OMIM/MTHU007436 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU007426 http://purl.bioontology.org/ontology/OMIM/MTHU038295 http://purl.bioontology.org/ontology/OMIM/MTHU007429 http://purl.bioontology.org/ontology/OMIM/MTHU006894 http://purl.bioontology.org/ontology/OMIM/MTHU007437 http://purl.bioontology.org/ontology/OMIM/MTHU007431 http://purl.bioontology.org/ontology/OMIM/MTHU038296 http://purl.bioontology.org/ontology/OMIM/MTHU036371 http://purl.bioontology.org/ontology/OMIM/MTHU007435 http://purl.bioontology.org/ontology/OMIM/MTHU007438 http://purl.bioontology.org/ontology/OMIM/MTHU038294 http://purl.bioontology.org/ontology/OMIM/MTHU002630 http://purl.bioontology.org/ontology/OMIM/MTHU007433 http://purl.bioontology.org/ontology/OMIM/MTHU036683 http://purl.bioontology.org/ontology/OMIM/MTHU007434 http://purl.bioontology.org/ontology/OMIM/MTHU002596 http://purl.bioontology.org/ontology/OMIM/MTHU007432 http://purl.bioontology.org/ontology/OMIM/MTHU002606 See more See less
tui	T047
Gene Locus	Xq25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	308240
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C5399825
OMIM Entry Type	3
OMIM MimType Value	pound

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