ZFIN Human Disease: autosomal recessive congenital ichthyosis 6

OBO ID: DOID:0060715

Term Name:	autosomal recessive congenital ichthyosis 6		Search Ontology:
Synonyms:	ARCI6
Definition:	An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (2)
References:	ICD10CM:Q80.2 OMIM:612281
Ontology:	Human Disease ( DOID:0060715 )

Relationships

is a type of:	autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis Show first 5 Terms

OTHER autosomal recessive congenital ichthyosis 6 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
NIPAL4	nipal4	Ichthyosis, congenital, autosomal recessive 6	612281

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None