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Metadata
ID DOID:0060718
Name autosomal recessive congenital ichthyosis 9
Definition An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26.
https://www.ncbi.nlm.nih.gov/pubmed/21093221, https://www.ncbi.nlm.nih.gov/pubmed/23754960
Xrefs

ICD10CM:Q80.2

MIM:615023

Subsets

DO_rare_slim

Synonyms

ARCI9 [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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