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

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:plasminogen deficiency type I
go back to main search page
Accession:DOID:0111592 term browser browse the term
Definition:A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. (DO)
Synonyms:exact_synonym: plasminogen deficiency, type 1
 narrow_synonym: DYSPLASMINOGENEMIA;   LIGNEOUS CONJUNCTIVITIS;   Ligneous membranitis;   plasminogen deficiency, type II
 primary_id: MESH:C566897
 alt_id: OMIA:002020;   OMIM:217090
 xref: GARD:4380;   ICD10CM:E88.02;   ORDO:722
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
plasminogen deficiency type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plg plasminogen ISO ClinVar Annotator: match by synonym: Dysplasminogenemia
ClinVar Annotator: match by OMIM:217090
ClinVar Annotator: match by term: Plasminogen deficiency, type I
OMIM
ClinVar
PMID:659588, PMID:1427790, PMID:1986355, PMID:6216475, PMID:6238949, PMID:8392398, PMID:9242524, PMID:9375744, PMID:9834305, PMID:9858247, PMID:10233898, PMID:12850227, PMID:15269832, PMID:16849641, PMID:25741868, PMID:31064749 NCBI chr 1:48,521,828...48,563,895
Ensembl chr 1:48,521,772...48,563,776
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    syndrome 6993
      plasminogen deficiency type I 1
Path 2
Term Annotations click to browse term
  disease 16096
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5628
            autosomal genetic disease 4631
              autosomal recessive disease 2512
                plasminogen deficiency type I 1
paths to the root

NHLBI Logo

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