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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) 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
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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.


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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
OMIM
ClinVar
PMID:2496145, PMID:7095605, PMID:10583218 NCBI chr10:62,264,247...62,272,353
Ensembl chr10:62,264,788...62,273,119
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      hematopoietic system disease 1653
        hemorrhagic disease 611
          alpha-2-plasmin inhibitor deficiency 1
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          monogenic disease 5714
            autosomal genetic disease 4732
              autosomal recessive disease 2601
                alpha-2-plasmin inhibitor deficiency 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.