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factor V and factor VIII, combined deficiency of, type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0009206

Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: factor V and factor VIII, combined deficiency of, type 1 combined factor V and VIII deficiency LMAN1 combined deficiency of factor V and factor VIII factor 5 and Factor VIII, combined deficiency of, 1 combined deficiency of factor V and factor VIII caused by mutation in LMAN1

This is just here as a test because I lose it

Term information

database cross reference
Subsets

gard_rare, rare, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

exactMatch

http://identifiers.org/snomedct/84048006

https://omim.org/entry/227300

has related synonym

F5F8D1

familial multiple coagulation Factor deficiency 1

FMFD 1

factor V and factor VIII, combined deficiency of, 1

multiple coagulation Factor deficiency 1

id

MONDO:0009206

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009206