Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

FACTOR V DEFICIENCY

Synonyms

OWREN PARAHEMOPHILIA

ID

http://purl.bioontology.org/ontology/OMIM/227400

altLabel

OWREN PARAHEMOPHILIA

LABILE FACTOR DEFICIENCY

PARAHEMOPHILIA

cui

C0015499

Gene Locus

1q23

Gene Symbol

THPH2

F5

RPRGL1

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU023372

http://purl.bioontology.org/ontology/OMIM/MTHU023370

http://purl.bioontology.org/ontology/OMIM/MTHU027986

http://purl.bioontology.org/ontology/OMIM/MTHU023371

http://purl.bioontology.org/ontology/OMIM/MTHU023376

http://purl.bioontology.org/ontology/OMIM/MTHU023373

http://purl.bioontology.org/ontology/OMIM/MTHU023375

http://purl.bioontology.org/ontology/OMIM/MTHU023369

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

227400

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

FACTOR V DEFICIENCY

tui

T047

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Delete Mapping To Ontology Source
http://purl.obolibrary.org/obo/DOID_2216 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D005166 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D005166 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/ICD10CM/D68.2 International Classification of Diseases, Version 10 - Clinical Modification CUI