familial hemophagocytic lymphohistiocytosis 4
Go to external page http://purl.obolibrary.org/obo/MONDO_0011336
Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STX11 gene. [ MONDO:patterns/disease_series_by_gene ]
Synonyms: familial hemophagocytic lymphohistiocytosis 4 genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11 HLH4 familial hemophagocytic lymphohistiocytosis type 4 STX11 genetic hemophagocytic lymphohistiocytosis hemophagocytic lymphohistiocytosis, familial, type 4 FHL4 HPLH4
Term information
- OMIM:603552 (MONDO:equivalentTo)
- Orphanet:540 (OMIM:603552)
- GARD:9929 (OMIM:603552)
- MESH:C537252 (MONDO:equivalentTo)
- DOID:0110924 (MONDO:equivalentTo)
gard_rare, rare, nord_rare, clingen
http://purl.obolibrary.org/obo/DOID_0110924
http://identifiers.org/mesh/C537252
https://omim.org/entry/603552
https://rarediseases.info.nih.gov/diseases/9929/hemophagocytic-lymphohistiocytosis-familial-4
https://search.clinicalgenome.org/kb/conditions/MONDO:0011336