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platelet-type bleeding disorder 20

Go to external page http://purl.obolibrary.org/obo/MONDO_0014830

Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the SLFN14 gene. [ MONDO:patterns/disease_series_by_gene ]

Synonyms: bleeding disorder, platelet-type, 20 inherited bleeding disorder, platelet-type caused by mutation in SLFN14 SLFN14 inherited bleeding disorder, platelet-type BDPLT20 autosomal dominant thrombocytopenia with platelet secretion defect platelet-type bleeding disorder 20

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C4310797 (MONDO:ncbi_mim2gene_medline)
  • GARD:17835 (Orphanet:466806)
  • GARD:18491 (OMIM:616913)
  • Orphanet:466806 (MONDO:equivalentTo)
  • DOID:0111055 (MONDO:equivalentTo)
  • OMIM:616913 (Orphanet:466806)
Subsets

gard_rare, ordo_disease, rare, nord_rare, orphanet_rare, clingen

exactMatch

http://linkedlifedata.com/resource/umls/id/C4310797

http://purl.obolibrary.org/obo/DOID_0111055

https://omim.org/entry/616913

http://www.orpha.net/ORDO/Orphanet_466806

id

MONDO:0014830

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0014830

Term relations