Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/603552
http://purl.bioontology.org/ontology/OMIM/603552
Preferred Name

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
Synonyms
FHL4
HPLH4
HLH4
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FHL4
HPLH4
HLH4
prefLabel
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4
Gene Symbol
FHL4
HPLH4
STX11
HLH4
Scope Statement
Fatal without hematopoietic stem cell transplantation [MISCELLANEOUS]
Caused by mutation in the syntaxin 11 gene (STX11, 605014.0001) [MOLECULAR BASIS]
Onset in infancy or early childhood [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU001686
http://purl.bioontology.org/ontology/OMIM/MTHU068373
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU042614
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU042616
http://purl.bioontology.org/ontology/OMIM/MTHU042615
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU042618
http://purl.bioontology.org/ontology/OMIM/MTHU018015
http://purl.bioontology.org/ontology/OMIM/MTHU005439
http://purl.bioontology.org/ontology/OMIM/MTHU003051
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU042617
http://purl.bioontology.org/ontology/OMIM/MTHU012767
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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tui
T047
Gene Locus
6q24
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
603552
Semantic type UMLS property
Has inheritance type
cui
C1863728
OMIM Entry Type
3
OMIM MimType Value
pound
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