Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:alpha-2-plasmin inhibitor deficiency
go back to main search page
Accession:DOID:0060601 term browser browse the term
Definition:A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO)
Synonyms:exact_synonym: Anti-Plasmin Deficiency, Congenital;   Antiplasmin deficiency, congenital;   antiplasmin deficiency;   plasmin inhibitor deficiency
 related_synonym: antiplasmin defiency
 primary_id: MESH:C537777
 alt_id: OMIM:262850;   RDO:0003676
 xref: ICD10CM:D68.8;   ORDO:79
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
alpha-2-plasmin inhibitor deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Serpinf2 serpin family F member 2 ISO ClinVar Annotator: match by OMIM:262850
ClinVar Annotator: match by null
PMID:2496145 PMID:7095605 PMID:10583218 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      hematopoietic system disease 1639
        hemorrhagic disease 613
          alpha-2-plasmin inhibitor deficiency 1
Path 2
Term Annotations click to browse term
  disease 16092
    Developmental Diseases 9588
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8436
        genetic disease 7958
          monogenic disease 5739
            autosomal genetic disease 4756
              autosomal recessive disease 2617
                alpha-2-plasmin inhibitor deficiency 1
paths to the root