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Metadata
ID DOID:0060655
Name autosomal recessive congenital ichthyosis
Definition An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.
https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance, https://www.ncbi.nlm.nih.gov/books/NBK1420/, https://www.ncbi.nlm.nih.gov/pubmed/20643494
Xrefs

ICD10CM:Q80.2

MESH:D017490

NCI:C84805

OMIM:PS242300

ORDO:281097

SNOMEDCT_US_2023_03_01:12215009

UMLS_CUI:C0079154

Alternateids

DOID:1699

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

ARCI [EXACT]

lamellar ichthyosis [EXACT]

non bullous congenital ichthyosiform erythroderma [EXACT]

Parent Relationships

is_a ichthyosis

is_a physical disorder

is_a autosomal recessive disease

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