autosomal recessive congenital ichthyosis 14

Term ID

DOID:0080258

Synonyms

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 SULT2B1 gene on chromosome 19q13. https://pubmed.ncbi.nlm.nih.gov/28575648/

References

• MIM:617571

Ontology

Human Disease   ( DOID:0080258 )