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familial hemophagocytic lymphohistiocytosis 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0011337

Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the PRF1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: PRF1 genetic hemophagocytic lymphohistiocytosis HPLH2 familial hemophagocytic lymphohistiocytosis type 2 hemophagocytic lymphohistiocytosis, familial, type 2 FHL2 genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1 familial hemophagocytic lymphohistiocytosis 2 HLH2

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/DOID_0110922

http://identifiers.org/mesh/C537250

https://omim.org/entry/603553

has related synonym

hemophagocytic lymphohistiocytosis, familial, 2

Hplh2

Hlh2

id

MONDO:0011337

seeAlso

https://rarediseases.info.nih.gov/diseases/9922/hemophagocytic-lymphohistiocytosis-familial-2

https://search.clinicalgenome.org/kb/conditions/MONDO:0011337

Term relations