Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Synonyms

FHL2

HPLH2

HLH2
ID

http://purl.bioontology.org/ontology/OMIM/603553
altLabel

FHL2

HPLH2

HLH2
cui

C1863727
Gene Locus

10q22
Gene Symbol

PRF1

HPLH2

FLH2
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
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

603553
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
Scope Statement

Caused by mutation in the perforin 1 gene (PRF1, 170280.0001) [MOLECULAR BASIS]
tui

T047
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