ZFIN Human Disease: protein C deficiency

OBO ID: DOID:3756

Term Name:	protein C deficiency		Search Ontology:
Synonyms:
Definition:	A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. https://pubmed.ncbi.nlm.nih.gov/10942114/
References:	GARD:4521 ICD10CM:D68.59 MESH:D020151 NCI:C99025 ORDO:745 SNOMEDCT_US_2023_03_01:76407009 UMLS_CUI:C0398625
Ontology:	Human Disease ( DOID:3756 )

Relationships

is a type of:	autosomal dominant disease thrombophilia autosomal dominant disease thrombophilia Show first 5 Terms
has subtype:	autosomal dominant thrombophilia due to protein C deficiency autosomal recessive thrombophilia due to protein C deficiency autosomal dominant thrombophilia due to protein C deficiency autosomal recessive thrombophilia due to protein C deficiency Show first 5 Terms

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Alliance (1)

GENES INVOLVED No data available

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None