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dyskeratosis congenita, autosomal dominant 2

Go to external page http://purl.obolibrary.org/obo/MONDO_0013521

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33. [ DOID:0070016 ]

Synonyms: dyskeratosis congenita, autosomal dominant type 2 DKCA2 dyskeratosis congenita, autosomal dominant 2

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0070016 (MONDO:equivalentTo)
  • NCIT:C176922 (MONDO:equivalentTo)
  • OMIM:613989 (MONDO:equivalentTo)
  • UMLS:C3151443 (OMIM:613989)
  • GARD:15741 (OMIM:613989)
  • Orphanet:3322 (OMIM:613989)
Subsets

gard_rare, rare, nord_rare, clingen

exactMatch

http://purl.obolibrary.org/obo/NCIT_C176922

http://purl.obolibrary.org/obo/DOID_0070016

http://linkedlifedata.com/resource/umls/id/C3151443

https://omim.org/entry/613989

has related synonym

autosomal dominant dyskeratosis congenita 2

dyskeratosis congenita, autosomal recessive 4

id

MONDO:0013521

seeAlso

https://search.clinicalgenome.org/kb/conditions/MONDO:0013521