ZFIN Human Disease: autosomal dominant dyskeratosis congenita 2

OBO ID: DOID:0070016

Term Name:	autosomal dominant dyskeratosis congenita 2		Search Ontology:
Synonyms:	DKCA2
Definition:	A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. https://www.ncbi.nlm.nih.gov/pubmed/16247010
References:	OMIM:613989
Ontology:	Human Disease ( DOID:0070016 )

Relationships

is a type of:	autosomal dominant disease dyskeratosis congenita autosomal dominant disease dyskeratosis congenita Show first 5 Terms

OTHER autosomal dominant dyskeratosis congenita 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TERT	tert	Dyskeratosis congenita, autosomal dominant 2	613989
		Dyskeratosis congenita, autosomal recessive 4	613989

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None