Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/603553
http://purl.bioontology.org/ontology/OMIM/603553
Preferred Name

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Synonyms
FHL2
HPLH2
HLH2
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
FHL2
HPLH2
HLH2
prefLabel
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Gene Symbol
PRF1
HPLH2
FLH2
Scope Statement
Caused by mutation in the perforin 1 gene (PRF1, 170280.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU005994
http://purl.bioontology.org/ontology/OMIM/MTHU009684
http://purl.bioontology.org/ontology/OMIM/MTHU001744
http://purl.bioontology.org/ontology/OMIM/MTHU009689
http://purl.bioontology.org/ontology/OMIM/MTHU000544
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU000014
http://purl.bioontology.org/ontology/OMIM/MTHU000780
http://purl.bioontology.org/ontology/OMIM/MTHU037935
http://purl.bioontology.org/ontology/OMIM/MTHU001643
http://purl.bioontology.org/ontology/OMIM/MTHU000212
http://purl.bioontology.org/ontology/OMIM/MTHU007426
http://purl.bioontology.org/ontology/OMIM/MTHU009681
http://purl.bioontology.org/ontology/OMIM/MTHU009695
http://purl.bioontology.org/ontology/OMIM/MTHU001376
http://purl.bioontology.org/ontology/OMIM/MTHU009691
http://purl.bioontology.org/ontology/OMIM/MTHU009693
http://purl.bioontology.org/ontology/OMIM/MTHU002090
http://purl.bioontology.org/ontology/OMIM/MTHU002543
http://purl.bioontology.org/ontology/OMIM/MTHU009688
http://purl.bioontology.org/ontology/OMIM/MTHU009687
http://purl.bioontology.org/ontology/OMIM/MTHU002997
http://purl.bioontology.org/ontology/OMIM/MTHU000164
http://purl.bioontology.org/ontology/OMIM/MTHU036371
http://purl.bioontology.org/ontology/OMIM/MTHU009690
http://purl.bioontology.org/ontology/OMIM/MTHU009694
http://purl.bioontology.org/ontology/OMIM/MTHU002540
http://purl.bioontology.org/ontology/OMIM/MTHU009683
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU009512
http://purl.bioontology.org/ontology/OMIM/MTHU002630
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU009685
http://purl.bioontology.org/ontology/OMIM/MTHU036911
http://purl.bioontology.org/ontology/OMIM/MTHU009682
http://purl.bioontology.org/ontology/OMIM/MTHU009692
http://purl.bioontology.org/ontology/OMIM/MTHU009696
http://purl.bioontology.org/ontology/OMIM/MTHU009686
http://purl.bioontology.org/ontology/OMIM/MTHU036518
http://purl.bioontology.org/ontology/OMIM/MTHU009679
http://purl.bioontology.org/ontology/OMIM/MTHU000242
http://purl.bioontology.org/ontology/OMIM/MTHU002606
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tui
T047
Gene Locus
10q22
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
603553
Semantic type UMLS property
Has inheritance type
cui
C1863727
OMIM Entry Type
3
OMIM MimType Value
pound
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