Visualize Submit Comment
Metadata
ID DOID:0060715
Name autosomal recessive congenital ichthyosis 6
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.
https://www.ncbi.nlm.nih.gov/pubmed/17557927, https://www.ncbi.nlm.nih.gov/pubmed/16436457
Xrefs

ICD10CM:Q80.2

MIM:612281

Subsets

DO_rare_slim

Synonyms

ARCI6 [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

Subclass Logical Relationships

disease has basis in some Abnormality of prenatal development or birth

Add an item to the term tracker