Recurrent splenomegaly

[carolina-f]

Preferred term label:

Synonyms

Definition (free text, please give PubMed ID)
I have found the word intermittent as a synonym for recurrent, however, the term Fluctuating splenomegaly does not seem to me to correspond exactly.
I'm not sure it can be added as a synonym, that's why I asked for a new term, but we can discuss it.

PMID: 25666262 The X-linkedinhibitor of apoptosis (XIAP)deficiency, also knownas theX-linkedlymphoproliferative syndrome type 2 (XLP-2), is a rare primary immunodeficiency. XIAP deficiency is characterized by a key triad of clinical manisfestations, which consist of a high susceptibility to develop hemophagocytic lymphohistiocytosis (HLH) frequently triggered by Epstein–Barr virus (EBV) infection, recurrent splenomegaly and inflammatory bowel disease (IBD) with the features of a Crohn’s disease.

PMID: 34222142 Splenomegaly is a classical manifestation of XIAP deficiency, with approximately half of the patients having persistent splenomegaly or experiencing one or more episodes of splenomegaly.

PMID: 21119115 Recurrent splenomegaly often associated with cytopenia and fever was preferentially observed in XLP-2 (XLP-1, 7%; XLP-2, 87%) and probably represents minimal forms of HLH as documented by histopathology.

Parent term (use hpo.jax.org/app)
Splenomegaly HP:0001744

Diseases characterized by this term ? (e.g. Orphanet or OMIM number)
X-linked lymphoproliferative disease due to XIAP deficiency (X-linked lymphoproliferative syndrome type 2 or XLP2) ORPHA:538934

Your nano-attribution (ORCID)
0009-0005-6714-5727

[pnrobinson]

I would suggest it is better to use the modifer term Recurrent HP:0031796.
I am not sure that Fluctuating splenomegaly is the greatest term, and will replace those annotations using the modifer Fluctuating HP:0031914

[carolina-f]

Thank you, but at the moment I do not have access to another branch other than Phenotypic abnormality to phenotype diseases in Orphanet