FB2025_05 , released December 11, 2025

CV Term Report

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General Information

Term

autosomal recessive congenital ichthyosis

ID (Ontology)

DOID:0060655 (Human Disease)

Definition

An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization.

Also Known As

"ARCI" ; "lamellar ichthyosis" ; "non bullous congenital ichthyosiform erythroderma"

Comment

Links to External Ontologies

DO.org

Annotations

Records annotated with this term OR any of its CHILD TERMS

Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records

Full annotation statements	Relevant FlyBase reports
Full annotation statements	Alleles	Genes	Human Disease Models
autosomal recessive congenital ichthyosis	2	1	1
model of \| autosomal recessive congenital ichthyosis	2	--	--

Spanning Tree (Parents/Children)

autosomal genetic disease
 |__autosomal recessive disease__
skin disease                     |
 |__ichthyosis___________________|
disease                          |
 |__physical disorder____________|
                                 autosomal recessive congenital ichthyosis  45 rec.
                                  |__autosomal recessive congenital ichthyosis 1 1 rec.
                                  |__autosomal recessive congenital ichthyosis 2
                                  |__autosomal recessive congenital ichthyosis 3
                                  |__autosomal recessive congenital ichthyosis 4A 1 rec.
                                  |__autosomal recessive congenital ichthyosis 4B 1 rec.
                                  |__autosomal recessive congenital ichthyosis 5 10 rec.
                                  |__autosomal recessive congenital ichthyosis 6 1 rec.
                                  |__autosomal recessive congenital ichthyosis 7
                                  |__autosomal recessive congenital ichthyosis 8 19 rec.
                                  |__autosomal recessive congenital ichthyosis 9 1 rec.
                                  |__autosomal recessive congenital ichthyosis 10 2 rec.
                                  |__autosomal recessive congenital ichthyosis 11 3 rec.
                                  |__autosomal recessive congenital ichthyosis 13 2 rec.
                                  |__autosomal recessive congenital ichthyosis 14 1 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	autosomal recessive disease physical disorder ichthyosis
Part of
Synonyms & Secondary IDs
Synonyms
	"ARCI" EXACT OMO:0003012 "lamellar ichthyosis" EXACT "non bullous congenital ichthyosiform erythroderma" EXACT
Secondary IDs

External Crossreferences & Linkouts
	ICD10CM:Q80.2 MESH:D017490 MIM:PS242300 NCI:C84805 ORDO:281097 SNOMEDCT_US_2023_03_01:12215009 UMLS_CUI:C0079154