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Metadata
ID DOID:1702
Name ichthyosis vulgaris
Definition An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface.
https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754
Xrefs

GARD:6752

ICD10CM:Q80.0

MESH:D016112

NCI:C84778

OMIM:146700

SNOMEDCT_US_2023_03_01:205551004

UMLS_CUI:C0079584

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

Dominant congenital ichthyosiform erythroderma [EXACT]

Parent Relationships

is_a ichthyosis

is_a autosomal dominant disease

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