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ONTOLOGY REPORT - ANNOTATIONS


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;   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 JBrowse Chr Start Stop Reference
G Plg plasminogen JBrowse link 1 48,521,828 48,563,895 RGD:7240710
RGD:8554872

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Path 1
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  disease 15609
    syndrome 5791
      plasminogen deficiency type I 1
Path 2
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  disease 15609
    Developmental Diseases 8986
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7802
        genetic disease 7293
          monogenic disease 4988
            autosomal genetic disease 3968
              autosomal recessive disease 2189
                plasminogen deficiency type I 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.