ZFIN Human Disease: autosomal recessive thrombophilia due to protein C deficiency

OBO ID: DOID:0111904

Term Name:	autosomal recessive thrombophilia due to protein C deficiency		Search Ontology:
Synonyms:	autosomal recessive PROC deficiency autosomal recessive protein C deficiency THPH4
Definition:	A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. (2)
References:	MESH:C567353 OMIM:612304 UMLS_CUI:C2676759
Ontology:	Human Disease ( DOID:0111904 )

Relationships

is a type of:	autosomal recessive disease protein C deficiency autosomal recessive disease protein C deficiency Show first 5 Terms

OTHER autosomal recessive thrombophilia due to protein C deficiency PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PROC	procb proca	Thrombophilia 3 due to protein C deficiency, autosomal recessive	612304

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None