ZFIN Human Disease: autosomal recessive dyskeratosis congenita 5

OBO ID: DOID:0070022

Term Name:	autosomal recessive dyskeratosis congenita 5		Search Ontology:
Synonyms:	DKCB5
Definition:	A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. https://www.ncbi.nlm.nih.gov/pubmed/19461895
References:	OMIM:615190
Ontology:	Human Disease ( DOID:0070022 )

Relationships

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

OTHER autosomal recessive dyskeratosis congenita 5 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RTEL1	rtel1	Dyskeratosis congenita, autosomal dominant 4	615190
		Dyskeratosis congenita, autosomal recessive 5	615190

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None