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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.



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 term: Dysplasminogenemia | 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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18256
    syndrome 9802
      plasminogen deficiency type I 1
Path 2
Term Annotations click to browse term
  disease 18256
    Pathological Conditions, Signs and Symptoms 12646
      Signs and Symptoms 10117
        Neurologic Manifestations 9338
          sensory system disease 6575
            eye disease 2996
              conjunctival disease 60
                conjunctivitis 46
                  plasminogen deficiency type I 1
paths to the root