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Autosomal Recessive Congenital Ichthyosis 2 (MONDO:0009439)

An autosomal recessive condition caused by mutation(s) in the ALOX12B gene, encoding arachidonate 12-lipoxygenase, 12R-type. It is characterized by dry, thickened, scaly skin.

Overview

Category

integumentary system disorder

Ontology ID

MONDO:0009439

Internal:10668

Synonyms

ARCI2

autosomal recessive congenital ichthyosis type 2

ichthyosis, congenital, autosomal recessive type 2

NBCIE

NCIE

collodion baby, self-healing

ichthyosiform erythroderma, Brocq congenital, nonbullous form

ichthyosiform erythroderma, Brocq congenital, nonbullous form, formerly

ichthyosiform erythroderma, congenital, nonbullous, 1

ichthyosiform erythroderma, nonbullous congenital, 1

ichthyosiform erythroderma, nonbullous congenital, 1, formerly

ichthyosis, congenital, autosomal recessive 2

Mapped terms

DOID:0060710

GARD:0015187

MEDGEN:854762

NCIT:C132827

OMIM:242100

UMLS:C3888093

Child terms

Unknown children.

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