autosomal recessive congenital ichthyosis 1

Term ID

DOID:0060656

Synonyms

• ARCI1
• bathing suit ichthyosis

Definition

An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. https://www.ncbi.nlm.nih.gov/pubmed/7824952

References

• GARD:3170
• ICD10CM:Q80.2
• OMIM:242300
• ORDO:100976
• ORDO:281122
• ORDO:313

Ontology

Human Disease   ( DOID:0060656 )