Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

FACTOR XII DEFICIENCY
Synonyms

HAF DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/234000
altLabel

HAF DEFICIENCY

F12 DEFICIENCY

HAGEMAN FACTOR DEFICIENCY
cui

C0015526
Gene Locus

5q33-qter
Gene Symbol

F12

HAF

HAE3
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

234000
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

FACTOR XII DEFICIENCY
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D005175 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/D005175 Medical Subject Headings LOOM
http://purl.obolibrary.org/obo/DOID_2231 Human Disease Ontology 123 LOOM