autosomal recessive congenital ichthyosis

Term ID

DOID:0060655

Synonyms

ARCI
non bullous congenital ichthyosiform erythroderma

Definition

An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (3)

References

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

Ontology

Human Disease ( DOID:0060655 )

Relationships

is a type of: autosomal recessive disease ichthyosis physical disorder

autosomal recessive disease ichthyosis physical disorder Show first 5 Terms
has subtype: autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 4B ... Show All 14 Terms

autosomal recessive congenital ichthyosis 1 autosomal recessive congenital ichthyosis 2 autosomal recessive congenital ichthyosis 3 autosomal recessive congenital ichthyosis 4A autosomal recessive congenital ichthyosis 4B autosomal recessive congenital ichthyosis 5 autosomal recessive congenital ichthyosis 6 autosomal recessive congenital ichthyosis 7 autosomal recessive congenital ichthyosis 8 autosomal recessive congenital ichthyosis 9 autosomal recessive congenital ichthyosis 10 autosomal recessive congenital ichthyosis 11 autosomal recessive congenital ichthyosis 13 autosomal recessive congenital ichthyosis 14 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models