autosomal recessive congenital ichthyosis 13

Term ID

DOID:0080257

Synonyms

Definition

An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. https://pubmed.ncbi.nlm.nih.gov/28369735/

References

• MIM:617574

Ontology

Human Disease   ( DOID:0080257 )