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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

MIM:606545

Subsets

DO_rare_slim

Synonyms

ARCI3 [EXACT]

lamellar ichthyosis 5 [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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