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Metadata
ID DOID:0060716
Name autosomal recessive congenital ichthyosis 7
Definition An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1.
https://www.ncbi.nlm.nih.gov/pubmed/16117785
Xrefs

ICD10CM:Q80.2

OMIM:615022

Subsets

DO_rare_slim

Synonyms

ARCI7 [EXACT]

Parent Relationships

is_a autosomal recessive congenital ichthyosis

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