Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

PERFORIN 1
Synonyms

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
ID

http://purl.bioontology.org/ontology/OMIM/170280
altLabel

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2

PRF1

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

PFN1

APLASTIC ANEMIA

LYMPHOMA, NON-HODGKIN

PFP

PORE-FORMING PROTEIN
cui

C0024305

C4015968

C1863727

C0002874

C1418887
Gene Locus

10q22
Gene Symbol

PRF1

HPLH2

FLH2
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/170280.0001

http://purl.bioontology.org/ontology/OMIM/170280.0013

http://purl.bioontology.org/ontology/OMIM/170280.0014

http://purl.bioontology.org/ontology/OMIM/170280.0005

http://purl.bioontology.org/ontology/OMIM/170280.0008

http://purl.bioontology.org/ontology/OMIM/170280.0006

http://purl.bioontology.org/ontology/OMIM/170280.0007

http://purl.bioontology.org/ontology/OMIM/170280.0010

http://purl.bioontology.org/ontology/OMIM/170280.0002

http://purl.bioontology.org/ontology/OMIM/170280.0004

http://purl.bioontology.org/ontology/OMIM/170280.0003

http://purl.bioontology.org/ontology/OMIM/170280.0015

http://purl.bioontology.org/ontology/OMIM/170280.0011

http://purl.bioontology.org/ontology/OMIM/170280.0016

http://purl.bioontology.org/ontology/OMIM/170280.0009

http://purl.bioontology.org/ontology/OMIM/170280.0012
MIMTYPEMEANING

Gene with known sequence
notation

170280
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

PERFORIN 1
tui

T191

T028

T033

T047
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http://purl.bioontology.org/ontology/ICD10/C85.9 International Classification of Diseases, Version 10 CUI
http://purl.bioontology.org/ontology/ICD10CM/D61.9 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/ICD10/C83.1 International Classification of Diseases, Version 10 CUI
http://purl.bmicc.cn/ontology/ICD10CN/D61.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.obolibrary.org/obo/PR_000003466 Cell Ontology LOOM
http://purl.obolibrary.org/obo/PR_000003466 Protein Ontology LOOM
http://purl.bmicc.cn/ontology/ICD10CN/C83.1 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/ICD10CM/C85.9 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97741 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/LNC/LP31880-5 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/D000741 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0002874 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/MESH/D008228 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537250 Medical Subject Headings CUI
http://purl.bmicc.cn/ontology/ICD10CN/C85.9 International Classification of Diseases, 10th Edition, China CUI
http://purl.bioontology.org/ontology/MEDLINEPLUS/C0024305 MedlinePlus Health Topics CUI
http://purl.bioontology.org/ontology/ICD10/D61.9 International Classification of Diseases, Version 10 CUI