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congenital factor V deficiency

Go to external page http://purl.obolibrary.org/obo/MONDO_0009210

Congenital factor V deficiency is an inherited bleeding disorder due to reduced plasma levels of factor V (FV) and characterized by mild to severe bleeding symptoms. [ Orphanet:326 ]

Synonyms: hereditary factor V deficiency deficiency, labile Proaccelerin deficiency congenital factor V deficiency labile factor deficiency Parahemophilia hereditary hypoproaccelerinaemia Owren disease hereditary Factor V deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:88776002 (MONDO:equivalentTo)
  • GARD:2237 (Orphanet:326)
  • DOID:2216 (MONDO:equivalentTo)
  • MedDRA:10048930 (Orphanet:326/e)
  • Orphanet:326 (OMIM:227400)
  • NCIT:C98938 (MONDO:equivalentTo)
  • OMIM:227400 (Orphanet:326/e)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5537

closeMatch

http://identifiers.org/meddra/10048930

exactMatch

http://purl.obolibrary.org/obo/DOID_2216

http://www.orpha.net/ORDO/Orphanet_326

http://identifiers.org/snomedct/88776002

http://purl.obolibrary.org/obo/NCIT_C98938

https://omim.org/entry/227400

has related synonym

factor 5 deficiency

labile Factor deficiency

Owren Parahemophilia

factor V deficiency

id

MONDO:0009210

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0009210

https://rarediseases.info.nih.gov/diseases/2237/factor-v-deficiency