autosomal recessive congenital ichthyosis 6

Term ID

DOID:0060715

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 )