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X-linked lymphoproliferative disease due to XIAP deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0010385

A condition of decreased or absent presence of baculoviral IAP repeat-containing protein 4. Deficiency of this protein is associated with X-linked lymphoproliferative syndrome 2. [ NCIT:C126295 ]

Synonyms: X-linked lymphoproliferative disease due to XIAP deficiency XIAP deficiency/XLPs lymphoproliferative syndrome, X-linked, 2, X-linked recessive lymphoproliferative syndrome, X-linked, type 2 X-linked lymphoproliferative syndrome type 2 XLP2 XIAP deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • MEDGEN:336848 (MONDO:equivalentTo)
  • Orphanet:538934 (MONDO:equivalentTo)
  • NCIT:C126295 (MONDO:equivalentTo)
  • GARD:10916 (MONDO:GARD)
  • OMIM:300635 (Orphanet:538934)
  • DOID:0060706 (MONDO:equivalentTo)
  • UMLS:C1845076 (MONDO:equivalentTo)
  • MESH:C564469 (MONDO:equivalentTo)
Subsets

ordo_disorder, gard_rare, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://www.orpha.net/ORDO/Orphanet_538934

http://identifiers.org/medgen/336848

http://purl.obolibrary.org/obo/NCIT_C126295

http://purl.obolibrary.org/obo/DOID_0060706

http://identifiers.org/mesh/C564469

https://omim.org/entry/300635

http://linkedlifedata.com/resource/umls/id/C1845076

has related synonym

lymphoproliferative syndrome, X-linked, 2

Xiap deficiency

XIAP-related lymphoproliferative disease, X-linked

id

MONDO:0010385

seeAlso

https://rarediseases.info.nih.gov/diseases/10916/x-linked-lymphoproliferative-syndrome-2