1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0060715 | autosomal recessive congenital ichthyosis 6 | An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:7 | disease of anatomical entity | A disease that manifests in a defined anatomical structure. |