ZFIN Human Disease: autosomal dominant dyskeratosis congenita 1

OBO ID: DOID:0070014

Term Name:	autosomal dominant dyskeratosis congenita 1		Search Ontology:
Synonyms:	DKCA1 Dyskeratosis Congenita, Scoggins Type
Definition:	A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. https://www.ncbi.nlm.nih.gov/pubmed/11574891
References:	OMIM:127550
Ontology:	Human Disease ( DOID:0070014 )

Relationships

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

OTHER autosomal dominant dyskeratosis congenita 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
TERC		Dyskeratosis congenita, autosomal dominant 1

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None