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vitamin K-dependent clotting factors, combined deficiency of, type 1

Go to external page http://purl.obolibrary.org/obo/MONDO_0010187

Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z. [ Orphanet:98434 ]

Synonyms: congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX vitamin K-dependent clotting factors, combined deficiency of, type 1 hereditary combined deficiency of factors II, VII, IX and X GGCX congenital vitamin K-dependent coagulation factors combined deficiency

This is just here as a test because I lose it

Term information

database cross reference
  • SCTID:724356003 (MONDO:equivalentTo)
  • OMIM:277450 (Orphanet:98434/e)
  • GARD:18195 (OMIM:277450)
  • MESH:C564741 (MONDO:equivalentTo)
  • UMLS:C1848534 (Orphanet:98434)
  • DOID:0112173 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease, rare, prototype_pattern, nord_rare, clingen

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6750

comment

This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'metabolic disease' (MONDO:0005066) ontology branch (https://orcid.org/0000-0002-1780-5230)

exactMatch

https://omim.org/entry/277450

http://linkedlifedata.com/resource/umls/id/C1848534

http://purl.obolibrary.org/obo/DOID_0112173

http://identifiers.org/snomedct/724356003

http://identifiers.org/mesh/C564741

has related synonym

familial multiple coagulation Factor deficiency 3

multiple coagulation Factor deficiency 3

Vkcfd

factors II, VII, IX, and X, combined deficiency of

VKCFD1

hereditary combined deficiency of vitamin K-dependent clotting factors

vitamin K-dependent coagulation defect

glutamic acid, deficient gamma-carboxylation of

FMFD 3

vitamin K-dependent clotting factors, combined deficiency of, 1

id

MONDO:0010187

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0010187