Visualize Submit Comment

Metadata
ID	DOID:0060711
Name	autosomal recessive congenital ichthyosis 3
Definition	An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. https://www.ncbi.nlm.nih.gov/pubmed/11398099, https://www.ncbi.nlm.nih.gov/pubmed/11773004
Xrefs	ICD10CM:Q80.2 OMIM:606545
Subsets	DO_rare_slim
Synonyms	ARCI3 [EXACT] lamellar ichthyosis 5 [EXACT]
Parent Relationships	is_a autosomal recessive congenital ichthyosis