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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:plasminogen deficiency type I
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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.


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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 More... NCBI chr 1:48,325,186...48,367,643
Ensembl chr 1:48,325,185...48,367,786 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17427
    syndrome 8258
      plasminogen deficiency type I 1
Path 2
Term Annotations click to browse term
  disease 17427
    Developmental Disease 11128
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9663
        genetic disease 9069
          monogenic disease 7223
            autosomal genetic disease 6350
              autosomal recessive disease 3542
                plasminogen deficiency type I 1
paths to the root